Q9ULC3
PR
Gene name |
RAB23 (HSPC137) |
Protein name |
Ras-related protein Rab-23 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51715 |
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 Q9ULC3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9ULC3-F1 | Predicted | AlphaFoldDB |
189 variants for Q9ULC3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000823068 rs1593223920 |
2 | L>missing | Carpenter syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227329 rs1765608519 |
6 | M>missing | Carpenter syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002529883 RCV000638833 rs150655349 COSM1080854 CA3873933 |
9 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium Carpenter syndrome RAB23-related Carpenter syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_065294 | 12 | M>K | CRPT1 [UniProt] | Yes | UniProt |
|
RCV000305521 RCV001034654 RCV000546008 CA3873927 rs765443042 |
28 | R>* | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA913184790 rs1593223800 RCV000004855 |
29 | Y>* | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776515230 CA3873925 RCV001203498 RCV001836135 |
30 | C>W | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001237096 rs1765602287 |
48 | E>* | Carpenter syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000193841 rs556931606 RCV001567378 RCV000917274 CA207593 RCV001159250 |
73 | A>V | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs774195943 RCV001159249 CA3873883 |
75 | T>S | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_065295 | 79 | Y>del | CRPT1 [UniProt] | Yes | UniProt |
|
COSM110172 CA10602375 rs145669565 RCV000290712 |
80 | R>Q | Variant assessed as Somatic; impact. endometrium skin RAB23-related Carpenter syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs766250966 CA3873861 RCV001064634 |
82 | A>P | Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_034902 | 85 | C>R | CRPT1 [UniProt] | Yes | UniProt |
|
RCV001449940 RCV000424519 VAR_034903 CA3873855 RCV000339958 rs45479896 |
101 | S>A | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748398827 CA364626399 RCV002232842 |
113 | D>N | Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1485030118 CA364626285 RCV001164155 |
130 | C>S | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000004854 rs1438138090 |
137 | E>* | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA364626206 RCV000790522 rs1593208594 |
139 | L>P | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000407501 rs121908171 RCV000004853 RCV000791402 CA116937 RCV000622686 |
145 | L>* | Carpenter syndrome Inborn genetic diseases RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060505026 CA16616858 RCV000477736 |
161 | V>L | Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs150440590 RCV000379503 CA3873782 RCV001095268 |
179 | E>A | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202181599 CA3873744 RCV000315595 |
206 | S>T | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3873742 rs1040461 RCV001764325 RCV001805026 RCV000279277 RCV001530494 VAR_017159 |
207 | G>S | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001162142 CA3873735 rs756536052 |
222 | Q>E | RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3873733 RCV001162141 rs748638791 RCV002559548 |
224 | T>S | Carpenter syndrome RAB23-related Carpenter syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA139738094 rs1041668291 |
3 | E>A | No |
ClinGen TOPMed |
|
|
CA364627147 rs1371438415 |
4 | E>K | No |
ClinGen gnomAD |
|
|
rs1460147050 CA364627133 |
5 | D>E | No |
ClinGen gnomAD |
|
|
rs1327720346 CA364627135 |
5 | D>V | No |
ClinGen gnomAD |
|
|
CA3873935 rs756913677 |
6 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3873936 rs757383592 |
6 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3873937 rs757383592 |
6 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755432344 CA3873932 |
10 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 13 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs187541185 CA3873931 |
13 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| VAR_034900 | 13 | V>del | No | UniProt | |
|
rs1562658222 CA364627071 |
15 | V>L | No |
ClinGen Ensembl |
|
|
rs1337558406 CA364627060 |
17 | N>D | No |
ClinGen TOPMed |
|
|
CA364627047 rs1337479331 |
19 | A>T | No |
ClinGen TOPMed |
|
|
CA139738091 rs1002043586 |
24 | S>G | No |
ClinGen Ensembl |
|
|
CA364627013 rs1250903048 |
24 | S>T | No |
ClinGen gnomAD |
|
|
CA3873926 rs376394715 COSM167795 |
28 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA364626977 rs1278352541 |
29 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 32 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775564217 CA3873922 |
33 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372354189 CA364626931 |
36 | K>E | No |
ClinGen gnomAD |
|
|
rs1476082158 CA364626927 |
36 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs888229513 CA139738089 |
38 | Y>* | No |
ClinGen TOPMed |
|
|
rs45442500 VAR_034901 CA139738088 |
40 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs778289288 CA3873919 |
42 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1169212362 CA364626881 |
43 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 44 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA139738087 rs144837695 |
46 | F>S | No |
ClinGen ESP TOPMed |
|
|
rs1049674573 CA139738086 |
49 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA139738085 rs1036516247 |
49 | R>Q | No |
ClinGen Ensembl |
|
|
rs770533291 CA3873918 |
52 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3873897 rs748908515 |
54 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA364626785 rs768999651 |
55 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1194580937 CA364626791 |
55 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3873896 rs772920591 |
55 | D>V | No |
ClinGen ExAC |
|
|
rs1229665349 CA364626781 |
56 | E>A | No |
ClinGen TOPMed |
|
|
CA364626773 rs1229936747 |
57 | D>A | No |
ClinGen gnomAD |
|
|
CA3873893 rs201141007 |
59 | R>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3873892 rs201141007 |
59 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746408859 CA3873891 |
61 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3873889 rs756128993 |
63 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1384951730 CA364626727 |
64 | D>A | No |
ClinGen gnomAD |
|
|
rs764354115 CA3873887 |
64 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs754099578 CA3873888 |
64 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1384951730 CA364626725 |
64 | D>V | No |
ClinGen gnomAD |
|
|
CA364626722 rs1196342589 |
65 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3873886 rs756294176 |
69 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA364626687 rs1450504070 |
70 | E>G | No |
ClinGen gnomAD |
|
|
rs1242109809 CA364626671 |
72 | D>G | No |
ClinGen TOPMed |
|
|
CA3873885 rs752495893 |
73 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535496318 CA139737835 |
75 | T>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs535496318 CA139737834 |
75 | T>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1262256035 CA364626642 |
77 | A>D | No |
ClinGen gnomAD |
|
|
rs1052193932 CA139737833 |
77 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA139737832 rs748296616 |
78 | Y>S | No |
ClinGen Ensembl |
|
|
rs934807998 CA139737831 |
79 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3873882 rs765870380 |
79 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762512079 COSM3430818 CA3873881 |
80 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA364626626 rs762512079 |
80 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766250966 CA3873862 |
82 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA139736703 rs45460606 |
83 | Q>* | No |
ClinGen Ensembl |
|
|
CA364626565 rs1437550316 |
87 | L>R | No |
ClinGen gnomAD |
|
|
CA139736701 rs764166088 |
88 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764166088 CA3873857 |
88 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482096391 CA364626547 |
90 | S>F | No |
ClinGen TOPMed |
|
|
rs1391087634 CA364626511 |
96 | S>T | No |
ClinGen gnomAD |
|
|
CA3873856 rs776209230 |
97 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1320442469 CA364626497 |
98 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1170637769 CA364626486 |
99 | A>G | No |
ClinGen gnomAD |
|
|
CA3873854 rs189316878 |
104 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1173099637 CA364626443 |
105 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364626438 rs1562651480 |
106 | K>R | No |
ClinGen Ensembl |
|
|
CA364626434 rs1230988323 |
107 | V>I | No |
ClinGen gnomAD |
|
|
rs1208023116 CA364626411 |
110 | E>G | No |
ClinGen gnomAD |
|
|
CA364626416 COSM1080850 rs1253324172 |
110 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA364626415 rs1253324172 |
110 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3873851 rs771522380 |
111 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA364626408 rs1485059302 |
111 | V>M | No |
ClinGen gnomAD |
|
|
rs777980453 CA3873849 |
112 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs201306901 CA3873848 |
112 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3873846 rs781327258 |
113 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3873847 rs748398827 |
113 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA364626391 rs1310101660 |
114 | I>L | No |
ClinGen gnomAD |
|
|
CA364626388 rs1412940584 |
114 | I>T | No |
ClinGen gnomAD |
|
|
rs138803099 CA3873845 |
116 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1021101111 CA139736700 |
118 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3873843 rs779859049 |
123 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA139736698 rs113915088 |
123 | I>V | No |
ClinGen Ensembl |
|
|
CA364626314 rs758285349 |
126 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200997551 CA3873839 |
128 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1485030118 CA364626284 |
130 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3873838 rs753397635 |
132 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA364626267 rs1211401650 |
133 | N>H | No |
ClinGen gnomAD |
|
|
rs1435785424 CA364626215 |
138 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3873818 rs753247666 |
142 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA364626178 rs1186623990 |
143 | L>F | No |
ClinGen TOPMed |
|
|
rs755805215 CA3873816 |
144 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3873815 rs766848855 |
148 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3873814 rs142831012 |
150 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3873813 rs142831012 |
150 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765599394 CA3873812 |
151 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs776526505 CA3873810 |
152 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA139736524 rs776526505 |
152 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1250287770 CA364626119 |
153 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA139736523 rs201981516 |
157 | N>K | No |
ClinGen 1000Genomes |
|
|
CA3873809 rs768775237 |
159 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488359848 CA364626071 |
160 | E>Q | No |
ClinGen gnomAD |
|
|
rs1470037704 CA364626049 |
161 | V>G | No |
ClinGen TOPMed |
|
|
rs1194517337 CA364626031 |
163 | K>N | No |
ClinGen TOPMed |
|
|
rs760686383 CA3873789 |
165 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs890106791 CA139736442 |
166 | A>T | No |
ClinGen Ensembl |
|
|
rs1469467792 CA364625999 |
168 | K>I | No |
ClinGen TOPMed |
|
|
CA364625991 rs1411084318 |
169 | Y>C | No |
ClinGen gnomAD |
|
|
CA3873788 rs767528393 |
169 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373113917 CA364625985 |
170 | L>F | No |
ClinGen gnomAD |
|
|
rs138217647 RCV000503273 CA139736441 |
177 | I>L | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
CA3873785 rs746123959 |
177 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3873784 rs368714640 |
178 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA139736440 rs1043367142 |
178 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3873781 rs377375386 |
182 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3873780 rs140295281 |
184 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140295281 CA3873779 |
184 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1483578009 CA364625889 |
185 | H>D | No |
ClinGen gnomAD |
|
|
CA364625866 rs1213319242 |
186 | S>P | No |
ClinGen gnomAD |
|
|
CA364625846 rs1328254676 |
187 | S>T | No |
ClinGen gnomAD |
|
|
CA364625829 rs1288532968 |
188 | S>T | No |
ClinGen gnomAD |
|
|
CA139736439 rs201056648 |
189 | N>K | No |
ClinGen Ensembl |
|
|
rs1337044929 CA364625804 |
190 | K>E | No |
ClinGen TOPMed |
|
|
rs1162898857 CA364625523 |
192 | G>A | No |
ClinGen gnomAD |
|
|
rs1162898857 CA364625525 |
192 | G>D | No |
ClinGen gnomAD |
|
|
rs1458429268 CA364625518 |
193 | V>F | No |
ClinGen gnomAD |
|
|
rs1463789858 CA364625502 |
195 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767578317 CA3873750 |
196 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767578317 CA139736140 |
196 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364625451 rs1388653996 |
203 | G>D | No |
ClinGen TOPMed |
|
|
COSM1222910 rs763116254 CA3873746 |
203 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs369307301 CA3873745 |
204 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376037995 CA3873743 |
206 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364625422 rs1593204039 |
208 | T>S | No |
ClinGen Ensembl |
|
|
rs1053849499 CA139736139 |
211 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA364625395 rs1226836566 |
212 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746460042 CA3873740 |
213 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364625389 rs1299014217 |
213 | D>V | No |
ClinGen gnomAD |
|
|
CA364625372 rs1470372071 |
216 | N>H | No |
ClinGen gnomAD |
|
|
rs774889725 CA3873739 |
216 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3873738 rs771703421 |
217 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3873737 rs745568867 |
218 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs778080260 CA3873736 |
219 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364625349 rs1196968920 |
220 | N>H | No |
ClinGen gnomAD |
|
| rs764844543 | 222 | Q>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA139736138 rs982511042 |
227 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 229 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364625244 rs1459898871 |
234 | C>S | No |
ClinGen TOPMed |
|
|
rs1303773622 CA364625225 |
236 | I>M | No |
ClinGen TOPMed |
|
|
rs1562648140 CA364625220 |
237 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1008463321 CA139736137 |
237 | P>T | No |
ClinGen TOPMed |
|
|
rs751619487 CA3873728 |
238 | P>E | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q9ULC3
[MIM: 201000]: Carpenter syndrome 1 (CRPT1)
A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. {ECO:0000269|PubMed:17503333, ECO:0000269|PubMed:21412941}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed. {ECO:0000269|PubMed:17503333, ECO:0000269|PubMed:21412941}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9ULC3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Small GTP-binding protein domain | 10 - 165 | IPR005225 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome membrane | The lipid bilayer surrounding an endosome. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
| GTPase activity | Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| autophagosome assembly | The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm. |
| cellular defense response | A defense response that is mediated by cells. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| craniofacial suture morphogenesis | The process in which any suture between cranial and/or facial bones is generated and organized. |
| GTP metabolic process | The chemical reactions and pathways involving GTP, guanosine triphosphate. |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| 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. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NRW1 | RAB6B | Ras-related protein Rab-6B | Homo sapiens (Human) | PR |
| Q5JT25 | RAB41 | Ras-related protein Rab-41 | Homo sapiens (Human) | PR |
| P20340 | RAB6A | Ras-related protein Rab-6A | Homo sapiens (Human) | PR |
| Q9NP72 | RAB18 | Ras-related protein Rab-18 | Homo sapiens (Human) | PR |
| A4D1S5 | RAB19 | Ras-related protein Rab-19 | Homo sapiens (Human) | PR |
| P20339 | RAB5A | Ras-related protein Rab-5A | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLEEDMEVAI | KMVVVGNGAV | GKSSMIQRYC | KGIFTKDYKK | TIGVDFLERQ | IQVNDEDVRL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MLWDTAGQEE | FDAITKAYYR | GAQACVLVFS | TTDRESFEAV | SSWREKVVAE | VGDIPTVLVQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NKIDLLDDSC | IKNEEAEALA | KRLKLRFYRT | SVKEDLNVNE | VFKYLAEKYL | QKLKQQIAED |
| 190 | 200 | 210 | 220 | 230 | |
| PELTHSSSNK | IGVFNTSGGS | HSGQNSGTLN | GGDVINLRPN | KQRTKKNRNP | FSSCSIP |