Q8N6T7
PR
Gene name |
SIRT6 |
Protein name |
NAD-dependent protein deacylase sirtuin-6 |
Names |
NAD-dependent protein deacetylase sirtuin-6, Protein mono-ADP-ribosyltransferase sirtuin-6, Regulatory protein SIR2 homolog 6, hSIRT6, SIR2-like protein 6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51548 |
EC number |
2.3.1.286: Transferring groups other than amino-acyl groups |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
41 structures for Q8N6T7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3K35 | X-ray | 200 A | A/B/C/D/E/F | 3-318 | PDB |
| 3PKI | X-ray | 204 A | A/B/C/D/E/F | 2-355 | PDB |
| 3PKJ | X-ray | 212 A | A/B/C/D/E/F | 2-355 | PDB |
| 3ZG6 | X-ray | 220 A | A | 1-296 | PDB |
| 5MF6 | X-ray | 187 A | A/B | 13-308 | PDB |
| 5MFP | X-ray | 198 A | A/B | 13-308 | PDB |
| 5MFZ | X-ray | 210 A | A/B | 13-308 | PDB |
| 5MGN | X-ray | 207 A | A/B | 13-308 | PDB |
| 5X16 | X-ray | 197 A | A | 3-318 | PDB |
| 5Y2F | X-ray | 253 A | A | 3-318 | PDB |
| 6HOY | X-ray | 170 A | A/B | 13-308 | PDB |
| 6QCD | X-ray | 184 A | A/B | 13-308 | PDB |
| 6QCE | X-ray | 190 A | A/B | 13-308 | PDB |
| 6QCH | X-ray | 210 A | A/B | 13-308 | PDB |
| 6QCJ | X-ray | 201 A | A/B | 13-308 | PDB |
| 6XUY | X-ray | 213 A | A/B | 13-308 | PDB |
| 6XV1 | X-ray | 195 A | A/B | 13-308 | PDB |
| 6XV6 | X-ray | 175 A | A/B/C/D/E/F | 3-318 | PDB |
| 6XVG | X-ray | 210 A | A/B/C/D/E/F | 3-318 | PDB |
| 6ZU4 | X-ray | 246 A | A/B | 13-308 | PDB |
| 7CL0 | X-ray | 253 A | A | 1-355 | PDB |
| 7CL1 | X-ray | 320 A | A | 1-355 | PDB |
| 8AK5 | X-ray | 212 A | A/B | 13-308 | PDB |
| 8AK6 | X-ray | 198 A | A/B | 13-308 | PDB |
| 8AK7 | X-ray | 181 A | A/B | 13-308 | PDB |
| 8AK8 | X-ray | 173 A | A/B | 13-308 | PDB |
| 8AK9 | X-ray | 195 A | A/B | 13-308 | PDB |
| 8AKA | X-ray | 177 A | A/B | 13-308 | PDB |
| 8AKB | X-ray | 213 A | A/B | 13-308 | PDB |
| 8AKC | X-ray | 183 A | A/B | 13-308 | PDB |
| 8AKD | X-ray | 176 A | A/B | 13-308 | PDB |
| 8AKE | X-ray | 182 A | A/B | 13-308 | PDB |
| 8AKF | X-ray | 197 A | A/B | 13-308 | PDB |
| 8AKG | X-ray | 182 A | A/B | 13-308 | PDB |
| 8BL0 | X-ray | 182 A | A/B | 13-308 | PDB |
| 8BL1 | X-ray | 206 A | A/B | 13-308 | PDB |
| 8F86 | EM | 310 A | K | 2-355 | PDB |
| 8G57 | EM | 307 A | K | 1-355 | PDB |
| 8I2B | X-ray | 220 A | A/B | 13-298 | PDB |
| 8OF4 | EM | 294 A | L | 1-355 | PDB |
| AF-Q8N6T7-F1 | Predicted | AlphaFoldDB |
359 variants for Q8N6T7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9091965 RCV001270238 rs771714154 |
121 | R>H | Premature ovarian failure [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA304474621 rs982066238 |
2 | S>A | No |
ClinGen Ensembl |
|
|
CA403422468 rs757448593 |
3 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9092107 rs757448593 |
3 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435558701 CA403422475 |
3 | V>M | No |
ClinGen gnomAD |
|
|
rs1320680986 CA403422455 |
4 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1219041828 CA403422402 |
6 | A>T | No |
ClinGen gnomAD |
|
|
CA403422395 rs1368492676 |
6 | A>V | No |
ClinGen gnomAD |
|
|
CA403422377 rs753254418 |
7 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs753254418 CA9092103 |
7 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs534210497 CA9092101 |
9 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403422332 rs1484727737 RCV000731233 |
10 | S>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA403422339 rs1599377778 |
10 | S>A | No |
ClinGen Ensembl |
|
|
rs1484727737 CA403422336 |
10 | S>L | No |
ClinGen TOPMed |
|
|
CA403422316 rs1173618166 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403422318 rs1173618166 |
11 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403422327 rs1183226757 |
11 | P>S | No |
ClinGen TOPMed |
|
|
CA9092100 rs774836980 |
12 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1192567764 CA403422277 |
13 | A>T | No |
ClinGen gnomAD |
|
|
rs762729347 CA9092098 |
14 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772687363 CA9092097 |
15 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1599377618 CA403422204 |
17 | K>T | No |
ClinGen Ensembl |
|
|
CA403422167 rs1459450449 |
20 | L>P | No |
ClinGen gnomAD |
|
|
rs898685252 CA304473996 |
23 | I>V | No |
ClinGen Ensembl |
|
|
COSM392901 CA9092066 rs752121167 VAR_086083 |
25 | D>N | lung found in non-small cell lung cancer; somatic mutation; reduced localization to chromatin; reduced histone deacetylase activity; does not affect the protein-lysine demyristoylase activity [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs200217515 CA9092063 |
27 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs766524945 | 27 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9092062 COSM1644987 rs200217515 |
27 | P>R | salivary_gland [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9092064 rs758896879 |
27 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9092059 rs776306176 |
28 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304473980 rs199878780 |
28 | E>V | No |
ClinGen Ensembl |
|
|
rs1322186026 CA403420829 |
29 | E>* | No |
ClinGen gnomAD |
|
|
CA9092058 rs368678471 |
30 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1339589717 CA403420773 |
32 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201488566 CA9092057 |
32 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339589717 CA403420772 |
32 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1599370864 CA403420745 |
34 | V>G | No |
ClinGen Ensembl |
|
|
rs1401434365 CA403420746 |
34 | V>L | No |
ClinGen gnomAD |
|
|
CA304473974 rs371751675 |
35 | W>C | No |
ClinGen Ensembl |
|
| VAR_086084 | 36 | E>V | found in kidney cancer; somatic mutation; reduced histone deacetylase activity; does not affect the protein-lysine demyristoylase activity [UniProt] | No | UniProt |
|
CA9092056 rs775473710 |
38 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403420683 rs775473710 |
38 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745727264 CA9092054 CA403420647 |
39 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9092053 rs773989035 |
41 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200195079 CA304473970 |
41 | V>I | No |
ClinGen Ensembl |
|
|
CA304473967 rs949022023 |
42 | W>L | No |
ClinGen Ensembl |
|
|
CA304473965 rs978026827 |
45 | S>F | No |
ClinGen TOPMed |
|
|
CA9092052 VAR_017154 rs352493 |
46 | S>N | does not affect histone deacetylase activity [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA403420444 rs352493 |
46 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200869088 CA9092050 |
47 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9092048 rs747077908 |
49 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1314510418 CA403420400 |
49 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1314510418 CA403420394 |
49 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs990727487 CA304473953 |
51 | T>M | No |
ClinGen gnomAD |
|
|
rs1239750468 CA403420310 |
52 | G>S | No |
ClinGen TOPMed |
|
|
rs780761507 CA9092047 |
53 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs138839184 CA304473949 |
58 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403420099 rs1229376892 |
58 | A>V | No |
ClinGen gnomAD |
|
|
rs200709134 CA403420088 |
59 | S>C | No |
ClinGen gnomAD |
|
|
rs200709134 CA304473946 |
59 | S>F | No |
ClinGen gnomAD |
|
|
rs1374849951 CA403419984 |
62 | P>R | No |
ClinGen gnomAD |
|
|
rs1234349413 CA403419987 |
62 | P>S | No |
ClinGen TOPMed |
|
|
CA403419971 rs1328750644 |
63 | D>A | No |
ClinGen gnomAD |
|
|
CA403419974 rs779174928 VAR_086085 |
63 | D>H | found in a family presenting with four cases of perinatal lethality caused by severe neurodevelopmental and cardiac anomalies; abolished histone deacetylase activity; abolished protein demyristoylase activity; decreased ability to recognize and bind double-strand breaks (DSBs) sites; does not affect nuclear localization [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs779174928 CA9092044 |
63 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_086086 | 63 | D>Y | found in non-small cell lung cancer; somatic mutation; does not affect ability to recognize and bind double-strand breaks (DSBs) sites; strongly reduced histone deacetylase activity; strongly reduced the protein-lysine demyristoylase activity [UniProt] | No | UniProt |
| TCGA novel | 65 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914828817 CA304473233 |
66 | G>D | No |
ClinGen TOPMed |
|
|
rs200388805 CA9092017 |
67 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200388805 CA304473230 |
67 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9092016 rs144977739 |
68 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403419630 rs1353791377 |
69 | G>E | No |
ClinGen gnomAD |
|
|
rs201177813 CA403419565 |
72 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201177813 CA9092014 |
72 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9092013 rs761006976 |
73 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340421487 CA403419491 |
75 | E>A | No |
ClinGen gnomAD |
|
|
CA403419475 rs1417010383 |
76 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9092011 rs199934255 |
76 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304473205 rs199934255 |
76 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304473208 rs199934255 |
76 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281502703 CA403418511 |
79 | A>V | No |
ClinGen TOPMed |
|
|
rs1326652133 CA403418507 |
80 | P>S | No |
ClinGen gnomAD |
|
|
CA403418494 rs749695672 |
81 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9092007 rs749695672 |
81 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9092008 rs749695672 |
81 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201206776 CA304473188 |
83 | D>E | No |
ClinGen TOPMed |
|
|
CA403418461 rs756423888 |
83 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756423888 CA9092005 |
83 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747816216 CA9092004 |
84 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA403418432 rs1187928412 |
85 | T>P | No |
ClinGen gnomAD |
|
|
CA9092001 rs766273970 |
86 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs199849196 CA9092002 |
86 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9091999 rs758377188 |
88 | S>T | No |
ClinGen ExAC gnomAD |
|
| VAR_086087 | 89 | A>S | found in non-small cell lung cancer; somatic mutation; reduced histone deacetylase activity; does not affect the protein-lysine demyristoylase activity [UniProt] | No | UniProt |
|
CA403418325 rs1197840997 |
89 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750344205 CA9091998 |
89 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9091995 rs200742459 |
90 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091992 rs200117989 |
90 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9091993 rs200117989 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091994 rs200742459 |
90 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091990 rs749819498 |
92 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770879070 CA403418274 |
92 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9091991 rs770879070 |
92 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9091988 rs770152982 |
93 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1404855035 CA403418193 |
95 | H>P | No |
ClinGen gnomAD |
|
|
rs780761986 CA9091986 |
97 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091985 rs754633613 |
97 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403418116 rs1599366900 |
98 | L>Q | No |
ClinGen Ensembl |
|
|
CA403418066 rs1243489246 |
100 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs199587590 CA9091982 |
100 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA403418022 rs1450521573 |
102 | E>Q | No |
ClinGen gnomAD |
|
|
CA304473114 rs201577704 |
103 | R>C | No |
ClinGen gnomAD |
|
|
CA9091981 rs559817229 |
103 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757185877 CA403417957 CA9091979 |
104 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757185877 CA403417972 |
104 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767671795 CA9091977 |
107 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs199582071 CA9091974 |
108 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9091975 rs199582071 |
108 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201136536 CA9091973 |
108 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403417868 rs201136536 |
108 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304473098 rs201816604 |
114 | N>D | No |
ClinGen TOPMed |
|
|
CA9091969 rs777026518 |
115 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748564965 CA9091970 |
115 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304473091 VAR_086088 rs964309225 COSM712793 |
116 | D>N | lung Variant assessed as Somatic; impact. found in non-small cell lung cancer; somatic mutation; reduced localization to chromatin; strongly reduced histone deacetylase activity; strongly reduced the protein-lysine demyristoylase activity [Cosmic, NCI-TCGA, UniProt] | No |
ClinGen cosmic curated UniProt Ensembl NCI-TCGA dbSNP |
|
CA304473087 rs901593666 |
117 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779516683 CA403417452 |
121 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403417448 COSM3701500 rs771714154 |
121 | R>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403417445 rs771714154 |
121 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779516683 CA9091966 |
121 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1194992725 CA403417383 |
123 | G>S | No |
ClinGen gnomAD |
|
|
rs1456778395 CA403417357 |
124 | F>Y | No |
ClinGen gnomAD |
|
|
CA304473081 rs757028991 |
126 | R>M | No |
ClinGen TOPMed |
|
|
CA403417305 rs757028991 |
126 | R>T | No |
ClinGen TOPMed |
|
|
rs1599361925 CA403416040 |
127 | D>H | No |
ClinGen Ensembl |
|
|
CA9091937 rs780307430 |
128 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA403416007 rs931498318 |
129 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA304472174 rs931498318 |
129 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs972312814 CA304472168 |
132 | L>I | No |
ClinGen Ensembl |
|
|
CA304472164 rs764247906 |
132 | L>R | No |
ClinGen Ensembl |
|
|
rs765325811 CA9091933 |
134 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9091931 rs754376352 |
136 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs764504676 CA9091930 |
138 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403415817 rs1286780776 |
141 | C>R | No |
ClinGen gnomAD |
|
|
CA9091929 rs761159173 |
142 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9091928 rs775965735 |
144 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA403415795 rs1310471781 |
144 | C>Y | No |
ClinGen gnomAD |
|
|
rs772524213 CA9091927 |
145 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759282741 CA9091926 |
146 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091898 rs200364417 |
149 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200364417 CA403415571 |
149 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9091897 rs202115273 |
150 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs114189165 CA9091896 |
150 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254367963 CA403415519 |
153 | V>F | No |
ClinGen gnomAD |
|
|
rs201176270 CA304471374 |
154 | V>M | No |
ClinGen gnomAD |
|
|
CA304471372 rs867998685 |
155 | G>V | No |
ClinGen Ensembl |
|
|
rs202049302 CA304471365 |
157 | M>I | No |
ClinGen gnomAD |
|
|
rs1446751983 CA403415471 |
157 | M>T | No |
ClinGen gnomAD |
|
|
CA304471367 rs200150854 |
157 | M>V | No |
ClinGen Ensembl |
|
|
rs1300292462 CA403415454 |
158 | G>D | No |
ClinGen gnomAD |
|
|
CA304471361 rs867289503 |
159 | L>P | No |
ClinGen Ensembl |
|
|
rs1464699976 CA403415401 |
162 | T>M | No |
ClinGen gnomAD |
|
|
CA304471343 rs200159162 |
164 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9091894 rs201293003 |
164 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403415371 rs1378614786 |
165 | L>F | No |
ClinGen gnomAD |
|
|
CA403415374 rs1378614786 |
165 | L>I | No |
ClinGen gnomAD |
|
|
rs1176667330 CA403415367 |
165 | L>P | No |
ClinGen gnomAD |
|
|
CA304471340 rs866985233 |
167 | T>I | No |
ClinGen gnomAD |
|
|
rs1599358696 CA403415344 |
167 | T>P | No |
ClinGen Ensembl |
|
|
CA304471337 rs200763275 |
168 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403415314 rs1206445488 |
169 | A>T | No |
ClinGen gnomAD |
|
|
rs1349381932 CA403415270 |
171 | A>V | No |
ClinGen gnomAD |
|
|
CA403415263 rs1306521428 |
172 | R>G | No |
ClinGen gnomAD |
|
|
CA403415260 rs1238905414 |
172 | R>K | No |
ClinGen gnomAD |
|
|
rs1336903572 CA403415233 |
173 | G>E | No |
ClinGen gnomAD |
|
|
CA304471329 rs149090533 |
175 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403415212 rs1599358512 |
175 | R>Q | No |
ClinGen Ensembl |
|
|
CA9091872 rs752076200 |
179 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA403415050 rs1456374905 |
180 | E>G | No |
ClinGen gnomAD |
|
|
rs577060398 CA9091870 |
182 | R>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA304471227 rs199592512 |
183 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9091869 rs199592512 |
183 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1269079692 CA403414963 |
184 | T>A | No |
ClinGen TOPMed |
|
|
CA403414956 rs1447070627 |
184 | T>N | No |
ClinGen gnomAD |
|
|
CA403414903 rs1208553648 |
186 | L>P | No |
ClinGen gnomAD |
|
|
CA9091866 rs753324786 |
188 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA403414855 rs1235535109 |
188 | W>G | No |
ClinGen gnomAD |
|
|
CA9091865 rs764059173 |
190 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs553927876 CA9091864 |
191 | S>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA304471189 rs112118088 |
194 | D>G | No |
ClinGen Ensembl |
|
|
CA304471192 rs201065738 |
194 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA9091863 rs201065738 |
194 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403414665 rs201065738 |
194 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9091860 rs773361709 |
195 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9091862 rs540970217 |
195 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304471175 rs200397984 |
197 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748273844 CA9091858 |
198 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs748273844 CA403414557 |
198 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403414530 rs1432230177 |
199 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs200974179 CA304471153 |
200 | A>T | No |
ClinGen TOPMed |
|
|
rs1468375957 CA403414480 |
201 | D>A | No |
ClinGen gnomAD |
|
|
rs1468375957 CA403414477 |
201 | D>G | No |
ClinGen gnomAD |
|
|
rs201495361 CA9091855 |
201 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9091853 rs750787024 |
202 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403414437 rs1480858395 |
202 | E>G | No |
ClinGen gnomAD |
|
|
rs149957544 CA9091854 |
202 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs899264426 CA304471128 |
203 | A>D | No |
ClinGen TOPMed |
|
|
CA403414424 rs1456695999 |
203 | A>T | No |
ClinGen gnomAD |
|
|
CA9091851 rs778587368 |
204 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1215336197 CA403414373 |
205 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 206 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9091829 rs755635363 |
207 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558969933 CA9091827 |
208 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9091826 rs754970003 |
209 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1314997115 CA403413462 |
212 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1314997115 CA403413459 |
212 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs966977892 CA304470797 |
213 | L>R | No |
ClinGen TOPMed |
|
|
rs1020749560 CA304470776 |
214 | G>S | No |
ClinGen TOPMed |
|
|
rs1253594712 CA403413432 |
215 | T>A | No |
ClinGen TOPMed |
|
|
CA9091822 rs777062958 |
216 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA403413418 rs1375228419 |
216 | S>P | No |
ClinGen gnomAD |
|
|
CA9091819 rs75244031 |
220 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9091820 rs760718513 |
220 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1419319712 CA403413317 |
221 | P>L | No |
ClinGen gnomAD |
|
|
rs772005596 CA403413307 |
222 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091817 rs191314480 |
223 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs191314480 CA304470726 |
223 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9091816 rs200395703 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs200395703 CA9091815 |
224 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA304470720 rs1013244200 |
226 | P>L | No |
ClinGen gnomAD |
|
|
CA9091813 rs777449841 |
227 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1054937679 CA304470705 |
231 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs747712761 CA9091811 |
231 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9091810 rs201695126 |
232 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9091808 rs550563777 |
232 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9091809 rs201695126 |
232 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403413233 rs1318692850 |
233 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1486605695 CA403413220 |
234 | G>D | No |
ClinGen gnomAD |
|
|
CA9091806 rs200860440 |
235 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091805 rs147362434 |
235 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147362434 CA403413213 |
235 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433451294 CA403413182 |
239 | V>A | No |
ClinGen gnomAD |
|
|
rs370737205 CA9091801 |
239 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759529208 CA9091800 |
243 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1397744469 CA403413087 |
247 | D>G | No |
ClinGen gnomAD |
|
|
CA9091772 rs779743057 |
247 | D>Y | No |
ClinGen ExAC |
|
|
rs201886868 CA204145 |
248 | R>C | No |
ClinGen gnomAD |
|
|
CA9091771 rs771661245 |
248 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9091770 rs745815651 |
249 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17849818 CA304470518 |
249 | H>Y | No |
ClinGen Ensembl |
|
|
rs1174368755 CA403413052 |
251 | D>E | No |
ClinGen gnomAD |
|
|
rs368321168 CA9091769 |
253 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368321168 CA403413040 |
253 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304470508 rs200612766 |
253 | R>H | No |
ClinGen TOPMed |
|
|
rs199584212 CA9091766 |
258 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304470490 rs992258104 |
259 | D>G | No |
ClinGen gnomAD |
|
|
CA9091763 rs200486957 |
260 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201007105 CA9091764 |
260 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_086089 | 260 | E>del | found in non-small cell lung cancer; somatic mutation; reduced localization to chromatin [UniProt] | No | UniProt |
|
CA304470477 rs1033315404 |
261 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9091762 rs758402464 |
262 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs766675281 CA304470474 |
262 | M>V | No |
ClinGen Ensembl |
|
|
CA9091761 rs751009016 |
263 | T>I | No |
ClinGen ExAC gnomAD |
|
|
VAR_086090 CA403412896 rs1259485520 |
263 | T>P | Variant assessed as Somatic; 0.0 impact. found in cervical cancer; somatic mutation; reduced histone deacetylase activity; slightly reduced the protein-lysine demyristoylase activity [NCI-TCGA, UniProt] | No |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
rs201745114 CA9091759 |
264 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765650936 CA9091760 |
264 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403412881 rs1242370702 |
265 | L>F | No |
ClinGen TOPMed |
|
|
CA403412832 rs1281033014 |
267 | K>N | No |
ClinGen TOPMed |
|
|
rs1351317628 CA403412823 |
268 | H>D | No |
ClinGen TOPMed |
|
|
rs1413115530 CA403412783 |
270 | G>R | No |
ClinGen gnomAD |
|
|
TCGA novel VAR_086091 |
274 | P>L | Variant assessed as Somatic; impact. found in melanoma; somatic mutation; reduced histone deacetylase activity; does not affect the protein-lysine demyristoylase activity [NCI-TCGA, UniProt] | No |
NCI-TCGA UniProt |
|
CA403412713 rs1313494803 |
274 | P>T | No |
ClinGen gnomAD |
|
|
CA403412693 rs74317014 |
275 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000957840 CA9091757 rs74317014 |
275 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403412662 rs1453029931 |
276 | W>* | No |
ClinGen gnomAD |
|
|
rs576003936 CA9091755 |
277 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403412647 rs1364120015 |
277 | D>Y | No |
ClinGen gnomAD |
|
|
CA403412622 rs745356492 |
278 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774393151 CA9091752 |
278 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9091753 rs745356492 |
278 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403412616 rs774393151 |
278 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9091750 rs749208802 |
280 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1185902480 CA403412587 |
280 | R>H | No |
ClinGen TOPMed |
|
|
rs1185902480 CA403412582 |
280 | R>L | No |
ClinGen TOPMed |
|
|
CA403412578 rs1352070830 |
281 | V>M | No |
ClinGen gnomAD |
|
|
CA403412546 rs1270332211 |
283 | E>K | No |
ClinGen gnomAD |
|
|
CA403412494 rs1231857434 |
285 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403412468 rs1294129902 |
287 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755843151 CA9091748 |
288 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1317748164 CA403412445 |
288 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1317748164 CA403412437 |
288 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9091747 rs370210332 |
290 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs758533288 CA9091745 |
291 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403412403 rs992892719 |
291 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304470356 rs992892719 |
291 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9091744 rs750451647 |
292 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403412383 rs750451647 |
292 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403412373 rs1473589805 |
293 | P>L | No |
ClinGen gnomAD |
|
|
rs754321559 CA9091741 |
294 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448019022 CA403412339 |
295 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1568291503 CA403412333 |
296 | K>Q | No |
ClinGen Ensembl |
|
|
CA304470334 rs200211734 |
300 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1468292523 CA403412171 |
303 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403412158 rs1274249742 |
304 | P>S | No |
ClinGen gnomAD |
|
|
CA403412137 rs1275362106 |
305 | T>I | No |
ClinGen TOPMed |
|
|
rs375232383 CA304470333 |
306 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403412126 rs761055781 |
306 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091739 rs761055781 |
306 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375232383 CA9091740 |
306 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403412112 rs1367526861 |
307 | I>N | No |
ClinGen gnomAD |
|
|
CA304470329 rs553160743 |
307 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
RCV000973161 COSM3692782 rs201141490 CA403412067 CA9091738 |
308 | N>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA403412063 rs1438689592 |
309 | G>S | No |
ClinGen gnomAD |
|
|
rs370966753 CA403412046 |
310 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370966753 CA9091736 |
310 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA304470320 rs889283473 |
310 | S>P | No |
ClinGen TOPMed |
|
|
CA403412028 rs1409203179 |
312 | P>S | No |
ClinGen TOPMed |
|
|
COSM3692781 CA9091732 rs183444295 RCV000973160 |
313 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9091733 rs183444295 |
313 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9091729 rs200813796 |
314 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1391522259 CA403411997 |
314 | G>V | No |
ClinGen gnomAD |
|
|
CA403411992 rs1192281594 |
315 | P>A | No |
ClinGen gnomAD |
|
|
rs1454239413 CA403411988 |
315 | P>L | No |
ClinGen gnomAD |
|
|
CA403411967 rs1253977424 |
316 | K>R | No |
ClinGen gnomAD |
|
|
rs772254664 CA9091728 |
317 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs914687136 CA304470290 |
319 | P>S | No |
ClinGen TOPMed |
|
|
rs746066259 CA304470278 |
320 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201734353 CA304470276 |
321 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1267272299 CA403411860 |
323 | H>Q | No |
ClinGen TOPMed |
|
|
rs957905939 CA304470275 |
323 | H>R | No |
ClinGen TOPMed |
|
|
CA9091726 rs200218478 |
324 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403411854 rs757305022 |
324 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401979446 CA403411849 |
325 | G>D | No |
ClinGen Ensembl |
|
|
rs1275158293 CA403411852 |
325 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9091724 rs202184421 |
328 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9091722 rs200236361 |
329 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461758931 CA403411797 |
332 | K>T | No |
ClinGen TOPMed |
|
|
rs571169753 CA9091720 |
333 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9091721 rs753077829 |
333 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9091719 rs199502976 |
335 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403411764 rs1171235621 |
335 | R>W | No |
ClinGen gnomAD |
|
|
rs897484607 CA304470255 |
336 | P>T | No |
ClinGen TOPMed |
|
|
rs751163206 CA9091718 |
338 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1193493577 CA403411702 |
340 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403411695 rs1568290857 |
341 | P>L | No |
ClinGen Ensembl |
|
|
rs192661013 CA9091717 |
342 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192661013 CA304470242 |
342 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403411691 rs192661013 |
342 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304470208 rs1005965731 |
343 | R>K | No |
ClinGen TOPMed |
|
|
rs980428045 CA304470197 |
344 | P>S | No |
ClinGen gnomAD |
|
|
CA9091714 rs201974715 |
346 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769700055 CA9091712 |
348 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376908374 CA304470179 |
349 | K>R | No |
ClinGen Ensembl |
|
|
rs1348246210 CA403411508 |
350 | A>D | No |
ClinGen gnomAD |
|
|
rs933459001 CA304470175 |
350 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403411465 rs1419568428 |
352 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs776444774 CA9091710 |
354 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199936276 CA304470164 |
355 | S>T | No |
ClinGen gnomAD |
No associated diseases with Q8N6T7
11 regional properties for Q8N6T7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Leucine-rich repeat | 659 - 680 | IPR001611-1 |
| repeat | Leucine-rich repeat | 684 - 751 | IPR001611-2 |
| repeat | Leucine-rich repeat | 753 - 808 | IPR001611-3 |
| repeat | Leucine-rich repeat, typical subtype | 657 - 680 | IPR003591-1 |
| repeat | Leucine-rich repeat, typical subtype | 682 - 704 | IPR003591-2 |
| repeat | Leucine-rich repeat, typical subtype | 705 - 728 | IPR003591-3 |
| repeat | Leucine-rich repeat, typical subtype | 729 - 750 | IPR003591-4 |
| repeat | Leucine-rich repeat, typical subtype | 751 - 774 | IPR003591-5 |
| repeat | Leucine-rich repeat, typical subtype | 775 - 796 | IPR003591-6 |
| repeat | Leucine-rich repeat, typical subtype | 797 - 820 | IPR003591-7 |
| domain | LRRC8, pannexin-like TM region | 1 - 384 | IPR021040 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.1.286 | Transferring groups other than amino-acyl groups |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| chromosome, subtelomeric region | A region of the chromosome, adjacent to the telomere (on the centromeric side) that contains repetitive DNA and sometimes genes. This region is usually heterochromatin. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| pericentric heterochromatin | Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3). |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
23 GO annotations of molecular function
| Name | Definition |
|---|---|
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| damaged DNA binding | Binding to damaged DNA. |
| deacetylase activity | Catalysis of the hydrolysis of an acetyl group or groups from a substrate molecule. |
| DNA damage sensor activity | A molecule that recognises toxic DNA structures, for example, double-strand breaks or collapsed replication forks, and initiates a signalling response. |
| histone deacetylase activity | Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction represents the removal of an acetyl group from a histone, a class of proteins complexed to DNA in chromatin and chromosomes. |
| lncRNA binding | Binding to a long noncoding RNA (lncRNA). |
| NAD+ ADP-ribosyltransferase activity | Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. |
| NAD+ binding | Binding to the oxidized form, NAD, of nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions. |
| NAD+- protein-lysine ADP-ribosyltransferase activity | Catalysis of the reaction: L-lysyl- + NAD(+) = H(+) + N(6)-(ADP-D-ribosyl)-L-lysyl- |
| NAD+-protein ADP-ribosyltransferase activity | Catalysis of the reaction: amino acyl- + NAD+ = H+ + (ADP-D-ribosyl)-amino acyl- |
| NAD+-protein-arginine ADP-ribosyltransferase activity | Catalysis of the reaction: L-arginyl- + NAD+ = H+ + (ADP-D-ribosyl)-L-arginyl- |
| NAD-dependent histone deacetylase activity | Catalysis of the reaction: histone N6-acetyl-L-lysine + H2O = histone L-lysine + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from a histone. |
| NAD-dependent histone deacetylase activity (H3-K18 specific) | Catalysis of the reaction: histone H3 N6-acetyl-L-lysine (position 18) + H2O = histone H3 L-lysine (position 18) + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from lysine at position 18 of the histone H3 protein. |
| NAD-dependent histone deacetylase activity (H3-K56 specific) | Catalysis of the reaction: histone H3 N6-acetyl-L-lysine (position 56) + H2O = histone H3 L-lysine (position 56) + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from lysine at position 56 of the histone H3 protein. |
| NAD-dependent histone deacetylase activity (H3-K9 specific) | Catalysis of the reaction: histone H3 N6-acetyl-L-lysine (position 9) + H2O = histone H3 L-lysine (position 9) + acetate. This reaction requires the presence of NAD, and represents the removal of an acetyl group from lysine at position 9 of the histone H3 protein. |
| NAD-dependent protein deacetylase activity | Catalysis of the removal of one or more acetyl groups from a protein, requiring NAD. |
| NAD-dependent protein demyristoylase activity | Catalysis of the reaction: N6-tetradecanoyl-L-lysyl- + NAD(+) + H2O = tetradecanoyl-ADP-D-ribose + L-lysyl- |
| NAD-dependent protein depalmitoylase activity | Catalysis of the reaction: N6-octadecanoyl-L-lysyl- + NAD(+) + H2O = octadecanoyl-ADP-D-ribose + L-lysyl- |
| nucleosome binding | Binding to a nucleosome, a complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| TORC2 complex binding | Binding to a TORC2 complex. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| zinc ion binding | Binding to a zinc ion (Zn). |
43 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair | In base excision repair, an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. |
| cardiac muscle cell differentiation | The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| circadian regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours. |
| determination of adult lifespan | The pathways that regulate the duration of the adult phase of the life-cycle of an animal. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| histone H3 deacetylation | The modification of histone H3 by the removal of one or more acetyl groups. |
| ketone biosynthetic process | The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cellular senescence | Any process that stops, prevents or reduces the frequency, rate or extent of cellular senescence. |
| negative regulation of gene expression, epigenetic | An epigenetic process that silences gene expression at specific genomic regions through chromatin remodelling either by modifying higher order chromatin fiber structure, nucleosomal histones, or the DNA. |
| negative regulation of gluconeogenesis | Any process that stops, prevents, or reduces the frequency, rate or extent of gluconeogenesis. |
| negative regulation of glucose import | Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. |
| negative regulation of glycolytic process | Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. |
| negative regulation of protein import into nucleus | Any process that stops, prevents, or reduces the frequency, rate or extent of the movement of proteins from the cytoplasm into the nucleus. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transcription elongation by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| negative regulation of transposition | Any process that decreases the frequency, rate or extent of transposition. Transposition results in the movement of discrete segments of DNA between nonhomologous sites. |
| pericentric heterochromatin assembly | The compaction of chromatin located adjacent to the CENP-A rich centromere 'central core' and characterized by methylation of histone H3K9, into heterochromatin, resulting in the repression of transcription at pericentric DNA. |
| positive regulation of blood vessel branching | Any process that activates or increases the frequency, rate or extent of blood vessel branching. |
| positive regulation of chondrocyte proliferation | Any process that increases the frequency, rate or extent of the multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage. |
| positive regulation of cold-induced thermogenesis | Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis. |
| positive regulation of double-strand break repair | Any process that activates or increases the frequency, rate or extent of double-strand break repair. |
| positive regulation of fat cell differentiation | Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. |
| positive regulation of fibroblast proliferation | Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of protein export from nucleus | Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm. |
| positive regulation of protein localization to chromatin | Any process that activates or increases the frequency, rate or extent of protein localization to chromatin. |
| positive regulation of stem cell differentiation | Any process that activates or increases the frequency, rate or extent of stem cell differentiation. |
| positive regulation of stem cell proliferation | Any process that activates or increases the frequency, rate or extent of stem cell proliferation. |
| positive regulation of telomere maintenance | Any process that activates or increases the frequency, rate or extent of a process that affects and monitors the activity of telomeric proteins and the length of telomeric DNA. |
| positive regulation of transcription factor catabolic process | Any process that activates or increases the frequency, rate or extent of transcription factor catabolic process. |
| positive regulation of vascular endothelial cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation. |
| protein ADP-ribosylation | The transfer, from NAD, of ADP-ribose to protein amino acids. |
| protein deacetylation | The removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic |
| protein delipidation | The breakage of covalent bonds to detach lipid groups from a protein. |
| protein destabilization | Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation. |
| regulation of circadian rhythm | Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. |
| regulation of double-strand break repair via homologous recombination | Any process that modulates the frequency, rate or extent of the error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. |
| regulation of lipid catabolic process | Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| response to UV | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| subtelomeric heterochromatin assembly | The compaction of chromatin into heterochromatin at the subtelomeric region. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IXJ6 | SIRT2 | NAD-dependent protein deacetylase sirtuin-2 | Homo sapiens (Human) | EV |
| Q96EB6 | SIRT1 | NAD-dependent protein deacetylase sirtuin-1 | Homo sapiens (Human) | PR |
| Q9NTG7 | SIRT3 | NAD-dependent protein deacetylase sirtuin-3, mitochondrial | Homo sapiens (Human) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSVNYAAGLS | PYADKGKCGL | PEIFDPPEEL | ERKVWELARL | VWQSSSVVFH | TGAGISTASG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IPDFRGPHGV | WTMEERGLAP | KFDTTFESAR | PTQTHMALVQ | LERVGLLRFL | VSQNVDGLHV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RSGFPRDKLA | ELHGNMFVEE | CAKCKTQYVR | DTVVGTMGLK | ATGRLCTVAK | ARGLRACRGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LRDTILDWED | SLPDRDLALA | DEASRNADLS | ITLGTSLQIR | PSGNLPLATK | RRGGRLVIVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQPTKHDRHA | DLRIHGYVDE | VMTRLMKHLG | LEIPAWDGPR | VLERALPPLP | RPPTPKLEPK |
| 310 | 320 | 330 | 340 | 350 | |
| EESPTRINGS | IPAGPKQEPC | AQHNGSEPAS | PKRERPTSPA | PHRPPKRVKA | KAVPS |