Q6Q788
PR
Gene name |
APOA5 (RAP3, UNQ411/PRO773) |
Protein name |
Apolipoprotein A-V |
Names |
Apo-AV, ApoA-V, Apolipoprotein A5, Regeneration-associated protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:116519 |
EC number |
|
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
1 structures for Q6Q788
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6Q788-F1 | Predicted | AlphaFoldDB |
341 variants for Q6Q788
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs3135506 VAR_021165 RCV002504745 RCV000004653 RCV002345231 RCV002054414 CA116845 |
19 | S>W | Hypertriglyceridemia, familial Familial type 5 hyperlipoproteinemia allele APOA5*3; associated with high plasma triglyceride levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000428946 rs201079485 RCV000768551 RCV002289560 CA6289100 RCV002436266 RCV001249015 |
97 | Q>* | Hypertriglyceridemia, familial Familial type 5 hyperlipoproteinemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000004654 rs121917821 CA116847 |
139 | Q>* | Familial type 5 hyperlipoproteinemia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA382738292 RCV001256824 rs1246031494 |
165 | G>A | Hyperlipoproteinemia, type I [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA116843 RCV001262207 rs2075291 VAR_021167 RCV002345230 RCV001650829 |
185 | G>C | Hypertriglyceridemia, familial associated with high plasma triglyceride levels [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001290185 rs1940989106 |
194 | Y>missing | Familial type 5 hyperlipoproteinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774150500 RCV001836651 RCV002246249 RCV001256823 RCV003166584 |
332 | D>missing | Hypertriglyceridemia, familial Familial type 5 hyperlipoproteinemia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1183005271 CA382741522 |
3 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA382741482 rs1315683338 |
5 | A>V | No |
ClinGen TOPMed |
|
|
rs779809358 CA382741470 |
6 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6289193 rs779809358 |
6 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484509090 CA382741448 |
8 | L>V | No |
ClinGen gnomAD |
|
|
rs975608682 CA229338850 |
13 | A>T | No |
ClinGen gnomAD |
|
|
CA382741392 rs1565325687 |
14 | L>F | No |
ClinGen Ensembl |
|
|
rs1203730577 CA382741288 |
17 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1351468 rs3135506 CA6289167 |
19 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA382741257 rs1245092057 |
20 | A>T | No |
ClinGen gnomAD |
|
|
rs1341674345 CA382741249 |
20 | A>V | No |
ClinGen gnomAD |
|
|
CA382741240 rs1312280193 |
21 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6289165 rs751538202 |
22 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1389264778 CA382741221 |
22 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1459532692 CA382741227 |
22 | Q>R | No |
ClinGen gnomAD |
|
|
CA382741210 rs1398702968 |
24 | R>Q | No |
ClinGen gnomAD |
|
|
rs144178633 CA382741211 |
24 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565325573 CA382741206 |
25 | K>E | No |
ClinGen Ensembl |
|
|
CA6289163 rs548745995 |
26 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1384008294 CA382741194 |
26 | G>S | No |
ClinGen gnomAD |
|
|
rs548745995 CA382741189 |
26 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473900842 CA382741159 |
28 | W>C | No |
ClinGen gnomAD |
|
|
CA6289162 rs139630081 |
29 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935117831 CA229338660 |
30 | Y>H | No |
ClinGen Ensembl |
|
|
rs1183052540 CA382741123 |
31 | F>L | No |
ClinGen gnomAD |
|
|
rs1450219819 CA382741075 |
34 | T>P | No |
ClinGen gnomAD |
|
|
rs765565265 CA6289161 |
35 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289160 rs184390502 |
35 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146323308 CA6289158 CA382741050 |
36 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_035124 CA6289156 RCV000586242 rs34282181 RCV002438530 |
37 | D>E | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1289216880 CA382741043 |
37 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 37 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382741003 rs1309131048 |
39 | G>V | No |
ClinGen TOPMed |
|
|
RCV000439005 rs1057522953 CA16606153 RCV002339064 |
40 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs148778842 CA6289155 |
40 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382740984 rs1177063839 |
41 | V>E | No |
ClinGen gnomAD |
|
|
rs1177063839 CA382740980 |
41 | V>G | No |
ClinGen gnomAD |
|
|
CA382740965 TCGA novel rs1406936324 |
42 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA382740900 rs1163222681 |
46 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6289153 rs778942385 |
47 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382740798 rs1240086727 |
49 | M>I | No |
ClinGen gnomAD |
|
|
CA382740783 rs1475374795 |
50 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748972080 CA6289151 |
50 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA382740754 rs1458297508 |
51 | R>L | No |
ClinGen TOPMed |
|
|
CA6289149 rs755144803 |
52 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382740390 COSM318731 rs1430234617 |
59 | S>I | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs773988647 CA6289115 |
60 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA229338197 rs866269244 |
61 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1220568671 CA382740253 |
65 | N>D | No |
ClinGen gnomAD |
|
|
COSM3979145 CA382740181 rs1466701153 |
67 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs372084940 CA6289113 |
67 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382740052 rs900242201 |
70 | F>L | No |
ClinGen TOPMed |
|
|
CA382739986 rs1229786953 |
74 | L>M | No |
ClinGen gnomAD |
|
|
rs773108378 CA6289112 |
75 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1038704562 COSM540863 CA229338181 |
76 | P>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA382739871 rs1295558197 |
79 | G>E | No |
ClinGen gnomAD |
|
|
CA382739825 CA6289111 rs565510415 |
80 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775696556 CA6289109 |
81 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1591313267 CA382739732 |
84 | R>L | No |
ClinGen Ensembl |
|
| TCGA novel | 84 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304522878 CA382739671 |
87 | Q>R | No |
ClinGen gnomAD |
|
|
rs746011485 CA6289107 |
89 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772266582 CA382739623 |
89 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6289108 rs772266582 |
89 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA229338165 rs1024311298 |
90 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778824656 CA6289106 |
91 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197451972 CA382739548 |
92 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757827003 CA6289105 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs867592586 CA229338148 |
93 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6289103 rs778302124 |
94 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382739509 rs778302124 |
94 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382739507 rs778302124 |
94 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201686049 CA6289104 |
94 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756437615 CA6289102 |
95 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6289101 rs201079485 |
97 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143382500 CA6289098 CA229338117 |
98 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA229338113 rs201115317 |
99 | E>G | No |
ClinGen Ensembl |
|
|
rs138033117 CA6289097 |
99 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1591313200 RCV000845420 |
99 | E>missing | No |
ClinVar dbSNP |
|
|
CA6289096 rs762480809 |
102 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1000069861 CA229338107 |
104 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6289095 rs146964666 |
105 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382739189 rs1434092204 COSM1506859 |
106 | R>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1565325056 CA382739125 |
108 | Q>* | No |
ClinGen Ensembl |
|
|
rs534852399 CA6289093 |
109 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs565944950 CA6289091 |
111 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371403919 CA6289092 |
111 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs944476883 CA229338038 |
112 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 113 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382738969 rs1480015395 |
114 | A>T | No |
ClinGen gnomAD |
|
|
rs1047406543 CA229338010 |
116 | E>K | No |
ClinGen TOPMed |
|
|
CA6289089 rs774584367 |
118 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770946707 CA6289088 |
120 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA382738779 rs1204464134 |
122 | L>F | No |
ClinGen gnomAD |
|
|
rs140178861 CA382738708 |
126 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6289086 rs199974844 |
129 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA229337981 rs930183998 |
134 | M>T | No |
ClinGen gnomAD |
|
|
rs1376410461 CA382738536 |
135 | D>N | No |
ClinGen Ensembl |
|
|
rs756677678 CA6289085 |
138 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA382738432 rs1565325016 |
143 | R>H | No |
ClinGen Ensembl |
|
|
rs781667094 CA6289083 |
143 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289080 rs751198486 |
144 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368739905 CA6289079 |
145 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538946034 CA6289078 |
146 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1160453333 CA382738394 |
149 | E>A | No |
ClinGen gnomAD |
|
|
rs1363500253 CA382738387 |
150 | Q>* | No |
ClinGen gnomAD |
|
|
CA229337960 rs916656857 |
152 | R>C | No |
ClinGen gnomAD |
|
|
rs570296174 CA6289077 |
152 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs916656857 CA382738373 |
152 | R>S | No |
ClinGen gnomAD |
|
|
CA6289076 RCV000589031 RCV002341508 rs3135507 VAR_021166 |
153 | V>M | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs927916209 CA229337938 |
154 | V>M | No |
ClinGen gnomAD |
|
|
rs761704440 CA6289075 |
156 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1315563873 CA382738307 |
162 | L>W | No |
ClinGen TOPMed |
|
|
rs1223182515 CA382738300 |
163 | L>R | No |
ClinGen TOPMed |
|
|
CA6289073 CA6289072 rs760422549 |
164 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382738293 rs1246031494 |
165 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6289071 rs774440773 |
165 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382738290 rs1361012634 |
166 | V>M | No |
ClinGen gnomAD |
|
| rs764366547 | 166 | V>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382738278 rs1267222828 |
167 | D>E | No |
ClinGen TOPMed |
|
|
rs762999453 CA382738280 |
167 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289068 rs762999453 |
167 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370837638 CA6289067 |
168 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194690198 CA382738268 |
169 | A>S | No |
ClinGen TOPMed |
|
|
rs748643764 CA6289065 |
171 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6289064 rs781745888 |
173 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382738234 rs747334731 |
174 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747334731 CA6289062 |
174 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779590119 CA6289061 |
175 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs758058040 CA6289060 |
177 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs749939049 CA6289059 |
178 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6289057 rs756703832 |
179 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382738206 rs756703832 |
179 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA229337863 rs34543602 |
180 | V>E | No |
ClinGen gnomAD |
|
|
CA229337869 rs34543602 |
180 | V>G | No |
ClinGen gnomAD |
|
|
rs753800578 CA6289056 COSM1580520 |
180 | V>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1457347175 CA382738193 |
181 | V>G | No |
ClinGen TOPMed |
|
|
CA229337848 rs978043764 |
183 | H>D | No |
ClinGen Ensembl |
|
|
rs760475712 CA6289054 |
183 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA382738145 rs201229911 |
184 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201229911 CA6289053 |
184 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144211639 CA229337828 |
185 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6289052 COSM686256 rs2075291 |
185 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6289051 rs773214283 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA382738132 rs1271898776 |
186 | R>S | No |
ClinGen gnomAD |
|
|
CA382738091 rs1303929283 |
188 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 189 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6289050 rs770016674 |
190 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1338032715 CA382738051 |
191 | F>I | No |
ClinGen TOPMed |
|
|
rs1274901509 CA382738024 |
192 | H>R | No |
ClinGen gnomAD |
|
|
rs761948955 CA6289049 |
193 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761948955 CA382738006 |
193 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289047 rs769230421 COSM686257 |
194 | Y>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA382737964 rs1166692949 |
196 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA382737962 rs1166692949 |
196 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1430443082 CA382737920 |
198 | L>P | No |
ClinGen gnomAD |
|
|
rs780433260 CA6289044 |
200 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289043 rs771668280 |
201 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1437936836 CA382737871 |
201 | G>D | No |
ClinGen gnomAD |
|
|
CA382737878 rs771668280 |
201 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382737836 rs1414641825 |
203 | G>A | No |
ClinGen TOPMed |
|
|
rs778493133 CA229337786 |
203 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778493133 CA6289041 |
203 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289040 COSM466362 rs546060544 |
204 | R>C | kidney Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA382737831 rs546060544 |
204 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752477156 CA6289037 CA6289038 |
205 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289039 rs753285841 |
205 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343847704 CA382737798 |
206 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1449784764 CA382737776 |
207 | Q>P | No |
ClinGen TOPMed |
|
|
CA6289034 rs759203957 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA382737743 rs750706052 |
209 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327371268 CA382737710 |
211 | R>G | No |
ClinGen gnomAD |
|
|
CA6289032 rs747958115 |
211 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1032962782 CA229337695 |
212 | S>I | No |
ClinGen TOPMed |
|
|
rs376891081 CA6289030 |
213 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382737663 rs1479685323 |
214 | A>P | No |
ClinGen gnomAD |
|
|
CA6289029 rs76753536 |
215 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190297273 CA382737628 |
216 | H>P | No |
ClinGen gnomAD |
|
|
rs775809738 CA6289027 |
217 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 217 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382737611 rs1234123974 |
217 | A>P | No |
ClinGen gnomAD |
|
|
rs1457255183 CA382737590 |
218 | P>R | No |
ClinGen gnomAD |
|
|
rs1423200917 CA382737579 |
219 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1205293123 CA382737563 |
220 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382737561 rs1205293123 |
220 | S>T | No |
ClinGen gnomAD |
|
|
rs772514533 CA6289026 |
222 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6289025 rs746148058 |
222 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6289024 rs774006043 |
223 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA229337627 rs890242001 |
224 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 224 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6289023 rs770555817 |
226 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382737482 rs770555817 |
226 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748861443 CA6289022 |
227 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339305136 CA382737466 |
227 | C>Y | No |
ClinGen gnomAD |
|
|
rs777235686 CA6289021 |
228 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1174840674 CA382737355 |
231 | L>F | No |
ClinGen gnomAD |
|
|
CA382737277 rs1441737341 |
232 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382737284 rs1409787509 |
232 | S>P | No |
ClinGen gnomAD |
|
|
CA6289017 rs563462071 |
233 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751344537 CA6289016 |
236 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382737162 rs751344537 |
236 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382737149 rs1358264520 |
237 | L>F | No |
ClinGen TOPMed |
|
|
rs765615181 CA6289015 |
237 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757551915 CA6289014 |
238 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1216315906 CA382737045 |
240 | K>E | No |
ClinGen gnomAD |
|
|
rs764254615 CA6289012 |
243 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776065144 CA382736904 |
244 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6289010 rs776065144 |
244 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376196775 CA6289009 |
245 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289805266 CA382736892 |
245 | R>H | No |
ClinGen gnomAD |
|
|
rs376196775 CA382736897 |
245 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759950783 CA6289008 |
246 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA382736860 rs1565324665 |
246 | I>N | No |
ClinGen Ensembl |
|
|
rs774692220 CA6289007 |
247 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770609003 CA6289006 |
248 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs748918554 CA6289005 |
249 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6289004 rs772805108 |
250 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486743654 CA382736620 |
251 | D>E | No |
ClinGen gnomAD |
|
|
rs372966851 CA6289002 |
251 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382736582 rs1240527836 |
252 | Q>H | No |
ClinGen gnomAD |
|
|
CA6289001 rs781206581 |
253 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754861714 CA6289000 |
254 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA229337491 rs978496105 |
255 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs543375884 RCV000588059 CA6288998 |
255 | E>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs746869568 CA6288999 |
255 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927429381 CA229337486 |
256 | E>* | No |
ClinGen TOPMed |
|
|
rs758216033 CA6288997 |
259 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758216033 CA229337478 |
259 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754142312 CA6288996 |
259 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382736317 rs1295897192 |
260 | A>V | No |
ClinGen gnomAD |
|
|
rs1399014835 CA382736281 |
261 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6288995 rs764151068 |
262 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs756228312 CA6288994 |
263 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs752705893 CA6288993 |
264 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382736085 rs1591312655 |
267 | E>K | No |
ClinGen Ensembl |
|
|
rs1424020546 CA382736013 |
268 | E>G | No |
ClinGen TOPMed |
|
|
CA6288992 rs574363219 |
268 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM132659 CA382735966 rs1422159957 |
269 | G>E | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs751970941 CA6288990 |
270 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382735922 rs1480879987 |
271 | G>D | No |
ClinGen gnomAD |
|
|
CA6288989 rs766754499 |
271 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6288987 rs772922485 |
272 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6288988 rs772922485 |
272 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229337428 rs989332330 |
273 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6288986 rs769276750 |
274 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328736127 CA382735834 |
274 | P>R | No |
ClinGen TOPMed |
|
|
CA382735859 rs769276750 |
274 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769276750 CA382735851 |
274 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6288985 rs149808404 |
275 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149808404 CA382735801 |
275 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6288982 rs375950328 |
277 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150667142 CA6288980 |
279 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1017355725 CA229337354 COSM1351464 |
279 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs771994073 CA6288978 |
280 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6288977 rs142901239 |
281 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382735535 rs778114184 |
282 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756286096 CA6288975 |
282 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756286096 CA382735531 |
282 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs778114184 CA6288976 |
282 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6288974 rs140206085 |
283 | Q>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6288973 rs781109287 |
284 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1398102023 CA382735432 |
287 | A>V | No |
ClinGen gnomAD |
|
|
CA6288972 rs755003082 |
289 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6288971 rs752093878 |
289 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA229337305 rs752093878 |
289 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA382735344 rs1270779185 |
291 | D>V | No |
ClinGen TOPMed |
|
|
rs766805532 CA6288970 |
292 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34832733 CA6288969 |
292 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766805532 CA229337297 |
292 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479224300 CA382735275 |
294 | L>R | No |
ClinGen TOPMed |
|
|
CA6288967 rs765011895 |
295 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761343549 CA6288966 |
296 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199689773 CA229337274 |
296 | I>V | No |
ClinGen 1000Genomes |
|
|
CA229337270 rs978653667 |
297 | A>T | No |
ClinGen TOPMed |
|
|
rs571858965 CA6288963 |
298 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA229337257 rs898806853 |
301 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA382735135 rs898806853 |
301 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370089477 CA229337251 |
301 | R>H | No |
ClinGen ESP TOPMed |
|
|
rs1038652320 CA229337240 |
302 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6288961 rs775577612 |
302 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 304 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403296082 CA382735075 |
305 | Q>* | No |
ClinGen TOPMed |
|
|
rs1017843978 CA229337236 |
306 | E>K | No |
ClinGen TOPMed |
|
|
rs772118863 CA6288960 |
307 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1374538057 CA382734968 |
310 | V>L | No |
ClinGen gnomAD |
|
|
rs147528707 CA6288959 RCV000478434 |
313 | Q>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1580519 RCV000589779 rs143292359 RCV002448828 CA6288957 |
315 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA382734842 rs954609291 |
317 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA229337191 rs954609291 |
317 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6288955 rs781438417 |
319 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201201147 RCV002377220 CA6288954 RCV000585917 |
321 | H>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 322 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382734730 rs1489783187 |
323 | A>V | No |
ClinGen TOPMed |
|
|
CA382734701 rs1238052508 |
324 | F>L | No |
ClinGen gnomAD |
|
|
rs751582219 CA6288953 |
325 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254507213 CA382734642 |
327 | E>Q | No |
ClinGen gnomAD |
|
|
rs1591312459 CA382734592 |
328 | F>V | No |
ClinGen Ensembl |
|
|
CA382734536 rs1343828641 |
330 | Q>E | No |
ClinGen gnomAD |
|
|
COSM272345 rs750842108 CA6288949 |
333 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA229337152 rs61743807 |
334 | G>S | No |
ClinGen Ensembl |
|
|
rs147349873 CA6288948 |
334 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs760743872 | 335 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA229337135 rs945395911 |
338 | S>G | No |
ClinGen Ensembl |
|
|
CA229337129 rs7120555 |
341 | Q>H | No |
ClinGen Ensembl |
|
|
CA382734299 rs1164378608 |
342 | A>T | No |
ClinGen TOPMed |
|
|
CA6288944 rs763777417 |
343 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382734277 rs763777417 |
343 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382734271 rs1591312418 |
343 | R>P | No |
ClinGen Ensembl |
|
|
CA382734280 rs763777417 |
343 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA229337112 rs369952307 |
346 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6288943 rs369952307 |
346 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382734218 rs1290885600 |
346 | D>V | No |
ClinGen gnomAD |
|
|
CA6288941 rs767603144 |
351 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382734099 rs1342372823 |
352 | T>A | No |
ClinGen TOPMed |
|
|
CA6288940 rs759367504 |
352 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA382734074 rs1446961805 |
353 | H>Q | No |
ClinGen gnomAD |
|
|
CA382734086 rs1164371033 |
353 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382734065 rs1245663934 |
354 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs556600766 CA229337096 |
355 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 355 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187247223 CA382733998 |
358 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 359 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774294731 CA6288939 |
359 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261942383 CA382733960 |
360 | H>Y | No |
ClinGen gnomAD |
|
|
CA382733883 rs1218353106 |
363 | L>M | No |
ClinGen gnomAD |
|
|
CA229337091 rs749327504 |
363 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749327504 CA6288938 |
363 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382733878 rs1218353106 |
363 | L>V | No |
ClinGen gnomAD |
|
|
rs749047023 CA229337080 |
365 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382733825 rs1246145799 |
366 | P>T | No |
ClinGen gnomAD |
2 associated diseases with Q6Q788
[MIM: 145750]: Hypertriglyceridemia, familial (FHTR)
A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 144650]: Hyperlipoproteinemia 5 (HLPP5)
Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A). {ECO:0000269|PubMed:16200213}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A common inherited disorder in which the concentration of very low density lipoprotein (VLDL) is elevated in the plasma. This leads to increased risk of heart disease, obesity, and pancreatitis. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- Characterized by increased amounts of chylomicrons and very low density lipoprotein (VLDL) and decreased low density lipoprotein (LDL) and high density lipoprotein (HDL) in the plasma after a fast. Numerous conditions cause this phenotype, including insulin-dependent diabetes mellitus, contraceptive steroids, alcohol abuse, and glycogen storage disease type 1A (GSD1A). {ECO:0000269|PubMed:16200213}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q6Q788
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6Q788 | |||
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| chylomicron | A large lipoprotein particle (diameter 75-1200 nm) composed of a central core of triglycerides and cholesterol surrounded by a protein-phospholipid coating. The proteins include one molecule of apolipoprotein B-48 and may include a variety of apolipoproteins, including APOAs, APOCs and APOE. Chylomicrons are found in blood or lymph and carry lipids from the intestines into other body tissues. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| endoplasmic reticulum lumen | The volume enclosed by the membranes of the endoplasmic reticulum. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| high-density lipoprotein particle | A lipoprotein particle with a high density (typically 1.063-1.21 g/ml) and a diameter of 5-10 nm that contains APOAs and may contain APOCs and APOE; found in blood and carries lipids from body tissues to the liver as part of the reverse cholesterol transport process. |
| late endosome | A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center. |
| very-low-density lipoprotein particle | A triglyceride-rich lipoprotein particle that is typically composed of APOB100, APOE and APOCs and has a density of about 1.006 g/ml and a diameter of between 20-80 nm. It is found in blood and transports endogenous products (newly synthesized cholesterol and triglycerides) from the liver. |
13 GO annotations of molecular function
| Name | Definition |
|---|---|
| cholesterol binding | Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| enzyme activator activity | Binds to and increases the activity of an enzyme. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| lipase activator activity | Binds to and increases the activity of a lipase, an enzyme that catalyzes of the hydrolysis of a lipid. |
| lipase binding | Binding to a lipase. |
| lipid binding | Binding to a lipid. |
| lipoprotein lipase activator activity | Binds to and increases the activity of a lipoprotein lipase, an enzyme that catalyzes of the hydrolysis of a lipid within a lipoprotein. |
| lipoprotein particle receptor binding | Binding to a lipoprotein particle receptor. |
| low-density lipoprotein particle receptor binding | Binding to a low-density lipoprotein receptor. |
| phosphatidylcholine binding | Binding to a phosphatidylcholine, a glycophospholipid in which a phosphatidyl group is esterified to the hydroxyl group of choline. |
| phosphatidylcholine-sterol O-acyltransferase activator activity | Increases the activity of phosphatidylcholine-sterol O-acyltransferase, an enzyme that converts cholesterol and phosphatidylcholine (lecithins) to cholesteryl esters and lyso-phosphatidylcholines. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
23 GO annotations of biological process
| Name | Definition |
|---|---|
| acylglycerol homeostasis | Any process involved in the maintenance of an internal steady state of acylglycerol within an organism or cell. |
| cholesterol biosynthetic process | The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. |
| cholesterol efflux | The directed movement of cholesterol, cholest-5-en-3-beta-ol, out of a cell or organelle. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. |
| high-density lipoprotein particle assembly | The non-covalent aggregation and arrangement of proteins and lipids to form a high-density lipoprotein particle. |
| lipid transport | The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. |
| lipoprotein metabolic process | The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. |
| phosphatidylcholine metabolic process | The chemical reactions and pathways involving phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. They are important constituents of cell membranes. |
| phospholipid efflux | The directed movement of a phospholipid out of a cell or organelle. |
| positive regulation of cholesterol esterification | Any process that increases the frequency, rate or extent of cholesterol esterification. Cholesterol esterification is the lipid modification process in which a sterol ester is formed by the combination of a carboxylic acid (often a fatty acid) and cholesterol. In the blood this process is associated with the conversion of free cholesterol into cholesteryl ester, which is then sequestered into the core of a lipoprotein particle. |
| positive regulation of fatty acid biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids. |
| positive regulation of lipid biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids. |
| positive regulation of lipid catabolic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. |
| positive regulation of lipoprotein lipase activity | Any process that activates or increases the activity of the enzyme lipoprotein lipase. |
| positive regulation of receptor-mediated endocytosis | Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. |
| positive regulation of triglyceride catabolic process | Any process that increases the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of triglyceride. |
| positive regulation of very-low-density lipoprotein particle remodeling | Any process that increases the rate, frequency or extent of very-low-density lipoprotein particle remodeling. Very-low-density lipoprotein particle remodeling is the acquisition, loss or modification of a protein or lipid within a very-low-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase or lipoprotein lipase and the subsequent loss of free fatty acid. |
| regulation of intestinal cholesterol absorption | Any process that modulates the frequency, rate or extent of absorption of cholesterol into the blood, and the exclusion of other sterols from absorption. |
| tissue regeneration | The regrowth of lost or destroyed tissues. |
| triglyceride catabolic process | The chemical reactions and pathways resulting in the breakdown of a triglyceride, any triester of glycerol. |
| triglyceride homeostasis | Any process involved in the maintenance of an internal steady state of triglyceride within an organism or cell. |
| triglyceride metabolic process | The chemical reactions and pathways involving triglyceride, any triester of glycerol. The three fatty acid residues may all be the same or differ in any permutation. Triglycerides are important components of plant oils, animal fats and animal plasma lipoproteins. |
| very-low-density lipoprotein particle remodeling | The acquisition, loss or modification of a protein or lipid within a very-low-density lipoprotein particle, including the hydrolysis of triglyceride by hepatic lipase or lipoprotein lipase and the subsequent loss of free fatty acid. |
4 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASMAAVLTW | ALALLSAFSA | TQARKGFWDY | FSQTSGDKGR | VEQIHQQKMA | REPATLKDSL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EQDLNNMNKF | LEKLRPLSGS | EAPRLPQDPV | GMRRQLQEEL | EEVKARLQPY | MAEAHELVGW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NLEGLRQQLK | PYTMDLMEQV | ALRVQELQEQ | LRVVGEDTKA | QLLGGVDEAW | ALLQGLQSRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VHHTGRFKEL | FHPYAESLVS | GIGRHVQELH | RSVAPHAPAS | PARLSRCVQV | LSRKLTLKAK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALHARIQQNL | DQLREELSRA | FAGTGTEEGA | GPDPQMLSEE | VRQRLQAFRQ | DTYLQIAAFT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAIDQETEEV | QQQLAPPPPG | HSAFAPEFQQ | TDSGKVLSKL | QARLDDLWED | ITHSLHDQGH |
| SHLGDP |