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 P04000
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P04000-F1 | Predicted | AlphaFoldDB |
211 variants for P04000
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001528791 rs1557157655 RCV000011250 RCV001699100 |
180 | A>= | RED CONE POLYMORPHISM [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009298 CA121104 rs121434621 RCV002466398 RCV000011251 RCV000479007 |
203 | C>R | Protan defect Cone monochromatism BCM [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000011249 CA121100 rs104894912 |
247 | R>* | Variant assessed as Somatic; impact. Cone monochromatism [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10558930 VAR_009299 rs782797093 |
307 | P>L | BCM [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV000011252 CA255281 rs104894913 VAR_064054 |
338 | G>E | Protan defect CBP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA10558725 rs782168842 |
2 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415297167 rs1557156888 |
5 | W>R | No |
ClinGen gnomAD |
|
|
CA415297232 rs1432802860 |
6 | S>N | No |
ClinGen TOPMed |
|
|
CA415297244 rs1557156890 |
6 | S>R | No |
ClinGen gnomAD |
|
|
CA10558726 rs782320360 |
10 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA415297372 rs1179025423 |
11 | A>E | No |
ClinGen TOPMed |
|
|
rs376687141 CA10558727 |
11 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10558728 rs782255535 |
12 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1557156900 CA415297395 |
13 | R>C | No |
ClinGen gnomAD |
|
|
rs782395128 CA10558729 |
14 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA415297445 rs1557156902 |
14 | H>Q | No |
ClinGen gnomAD |
|
|
CA10558730 rs782024126 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781941716 CA10558733 |
16 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 18 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557156905 CA415297738 |
23 | T>A | No |
ClinGen gnomAD |
|
|
rs782082005 CA10558734 |
23 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782744314 CA10558735 |
27 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA337665472 rs368762233 |
29 | T>I | No |
ClinGen ESP |
|
|
rs781989269 CA10558736 |
33 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10558737 rs782130602 |
34 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415298142 rs1603344740 |
34 | N>I | No |
ClinGen Ensembl |
|
|
CA10558738 rs782793124 |
35 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA415298194 rs1603344745 |
36 | T>P | No |
ClinGen Ensembl |
|
|
CA415298812 rs1557157390 |
38 | G>D | No |
ClinGen gnomAD |
|
|
CA415298823 rs1557157393 |
39 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1117811 COSM1117812 rs1557157399 CA415298938 |
41 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs377209440 CA337665632 |
43 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs781861633 CA10558757 |
47 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10558755 rs782693292 |
47 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA415299425 rs1557157405 |
50 | R>K | No |
ClinGen gnomAD |
|
|
rs1557157406 CA415299516 |
52 | V>M | No |
ClinGen gnomAD |
|
|
rs782783558 CA10558758 |
54 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1557157408 CA415299667 |
55 | L>V | No |
ClinGen gnomAD |
|
|
CA10558759 rs369185568 |
58 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557157412 CA415299928 |
60 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1333366976 CA415299956 |
61 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA415299986 rs1557157415 |
62 | F>S | No |
ClinGen gnomAD |
|
|
rs782550559 CA10558760 |
64 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10558761 rs782815809 |
65 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558762 rs781794536 |
66 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1603345202 CA415300147 |
66 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 67 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 68 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10558764 rs782786685 |
68 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA415300312 rs1387596834 |
72 | G>R | No |
ClinGen TOPMed |
|
|
CA10558765 rs782228887 |
74 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs782494665 CA10558767 |
76 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558766 rs782494665 |
76 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558769 rs782420318 |
78 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs782420318 CA415300557 |
78 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs868981933 CA415300628 |
79 | M>I | No |
ClinGen Ensembl |
|
|
rs1557157437 CA415300589 |
79 | M>V | No |
ClinGen gnomAD |
|
|
rs781915220 CA10558770 |
82 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1374912169 CA415300872 |
83 | K>N | No |
ClinGen TOPMed |
|
|
COSM1117818 RCV000485633 COSM1117817 rs1064796643 CA16621250 |
85 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA415300920 rs1557157441 |
85 | R>H | Variant assessed as Somatic; 6.334e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA415300977 rs1186876810 |
87 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415301225 rs1557157443 |
91 | I>N | No |
ClinGen gnomAD |
|
|
rs782337911 CA10558772 |
96 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376112729 CA415301515 |
97 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376112729 CA10558774 |
97 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450325118 CA415301535 |
98 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415301562 rs1450325118 |
98 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA415301712 rs1339445760 |
101 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10558776 rs782210449 |
101 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1339445760 CA415301713 |
101 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs371146776 CA10558778 |
104 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10558780 rs782102273 |
106 | A>S | No |
ClinGen ExAC |
|
|
CA415302131 rs1065421 |
111 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_012010 CA10558781 rs1065421 |
111 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781869198 CA10558782 |
112 | V>L | No |
ClinGen ExAC |
|
|
VAR_012011 rs1065422 CA10558783 |
116 | S>Y | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs2067072148 RCV001310756 |
118 | Y>* | No |
ClinVar dbSNP |
|
|
rs782670567 COSM755697 CA415302530 COSM755696 |
119 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1557157468 CA415302714 |
125 | M>L | No |
ClinGen gnomAD |
|
|
CA10558785 rs781787315 |
128 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA415303013 rs1398682615 |
133 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10558803 rs782484270 |
138 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557157619 CA415303811 |
151 | R>I | No |
ClinGen gnomAD |
|
|
rs713 CA337665709 VAR_012012 |
153 | M>L | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
|
CA519322669 rs1557157624 |
155 | V>L | No |
ClinGen gnomAD |
|
|
CA10558809 rs782340336 |
159 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA10558811 rs782249764 |
162 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA10558812 rs184047537 |
163 | R>I | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA337665717 rs782526787 |
164 | F>C | No |
ClinGen Ensembl |
|
|
COSM375503 rs373601495 CA10558813 COSM375502 |
165 | D>G | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1557157636 CA415304236 |
166 | A>G | No |
ClinGen gnomAD |
|
|
rs782292865 CA415304230 |
166 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782292865 CA10558814 |
166 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10558815 rs782305369 |
168 | L>M | No |
ClinGen ExAC |
|
|
CA415304307 rs1557157639 |
169 | A>V | No |
ClinGen gnomAD |
|
|
CA10558816 rs781931953 |
170 | I>V | No |
ClinGen ExAC |
|
|
rs5986963 CA10558819 |
171 | V>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10558818 rs5986963 |
171 | V>M | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA415304400 rs1557157644 |
172 | G>S | No |
ClinGen gnomAD |
|
|
rs1557157645 CA415304471 |
173 | I>T | No |
ClinGen gnomAD |
|
|
CA10558822 rs149897670 |
174 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10558823 rs150391359 |
177 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781836898 CA10558825 |
178 | I>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000454776 rs145009674 CA10558824 |
178 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
rs1557157653 CA415304630 |
179 | W>* | No |
ClinGen gnomAD |
|
|
VAR_004842 rs1557157655 CA337665728 |
180 | A>S | 62% of the population [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD |
|
CA10558826 rs375863094 |
182 | V>L | No |
ClinGen ESP ExAC |
|
|
CA10558828 rs782549215 |
184 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782568898 CA10558829 |
185 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782197748 CA10558830 |
186 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10558832 rs782699550 |
188 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1557157668 CA415304975 |
190 | G>A | No |
ClinGen gnomAD |
|
|
CA415305036 rs1557157669 |
192 | S>G | No |
ClinGen gnomAD |
|
|
rs1380050111 CA415305479 |
196 | P>A | No |
ClinGen TOPMed |
|
|
CA10558856 rs781989418 |
198 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558855 rs782361699 |
198 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782028359 CA10558859 |
207 | V>A | No |
ClinGen ExAC |
|
|
CA415305933 rs1557157806 |
207 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA415305956 rs1603345413 |
208 | F>V | No |
ClinGen Ensembl |
|
|
rs782047119 CA10558860 |
209 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558861 rs782715468 |
210 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159151639 CA415306174 |
211 | S>R | No |
ClinGen TOPMed |
|
|
CA415306203 rs1399594374 |
212 | S>L | No |
ClinGen TOPMed |
|
|
CA10558864 rs782755469 |
214 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA415306261 rs782755469 |
214 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs782523727 CA10558866 |
215 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188983268 CA415306337 |
216 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs781810750 CA10558868 |
220 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA10558870 rs782480227 |
221 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA10558869 rs782480227 |
221 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10558871 rs782250157 |
222 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA415306599 rs1557157826 |
224 | M>L | No |
ClinGen gnomAD |
|
|
rs1557157827 CA415306626 |
224 | M>R | No |
ClinGen gnomAD |
|
|
CA10558874 rs148583295 VAR_012014 COSM1557035 COSM1557034 |
230 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10558873 rs144864828 |
230 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781936473 CA415307007 |
233 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781936473 CA10558876 |
233 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292153674 CA415307013 |
233 | A>V | No |
ClinGen TOPMed |
|
|
rs782079976 CA10558877 |
234 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782358874 CA10558878 |
235 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1065426 CA10558880 CA10558881 |
236 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1065426 CA10558879 |
236 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1363528484 CA415307123 |
237 | L>V | No |
ClinGen TOPMed |
|
|
rs1288768228 CA415307159 |
238 | C>F | No |
ClinGen TOPMed |
|
|
CA415307199 rs1437848284 |
240 | L>R | No |
ClinGen TOPMed |
|
|
rs782070898 CA10558883 |
243 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA415307304 rs1349908448 |
243 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415307294 rs1349908448 |
243 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA415307336 rs1166314366 COSM1557032 COSM1557033 |
244 | L>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA415307364 rs1557157843 |
245 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782727254 CA415307349 |
245 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10558884 rs782727254 |
245 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781846140 CA10558885 |
247 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs139583770 | 248 | A>= | Variant assessed as Somatic; 6.354e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415307450 rs782506559 |
248 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558886 rs782506559 |
248 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782291194 CA10558898 |
251 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782326320 CA10558899 |
253 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1312545420 CA415307936 |
260 | Q>E | No |
ClinGen TOPMed |
|
|
rs1451624086 CA415308002 |
262 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557157969 CA415308017 |
263 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10558903 rs782000011 |
268 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558904 rs782151075 |
268 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782151075 CA10558905 |
268 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA415308193 rs1557157977 |
269 | M>I | No |
ClinGen gnomAD |
|
|
rs145097171 CA10558906 |
271 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145097171 CA415308224 |
271 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557157979 CA415308248 |
272 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs2315122 CA415308304 |
274 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA415308325 rs1459580137 |
274 | I>M | No |
ClinGen TOPMed |
|
|
CA415308307 rs2315122 VAR_050612 |
274 | I>V | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs2315124 CA10558910 |
275 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA337665818 rs2315123 |
275 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA10558909 rs2315123 |
275 | F>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3390514 CA415308382 COSM3390513 rs1557157985 |
276 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA337665820 rs2315126 |
277 | Y>F | No |
ClinGen Ensembl |
|
|
CA415308459 rs781838044 |
278 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1466738 COSM1466739 rs2315127 CA10558913 |
279 | V>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10558912 rs2315127 |
279 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA415308561 rs1557157993 |
283 | P>S | No |
ClinGen gnomAD |
|
|
rs200528091 CA10558916 |
285 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA415308605 rs1361043870 |
285 | T>S | No |
ClinGen TOPMed |
|
|
rs782365080 CA415308672 |
288 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10558918 rs782365080 |
288 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA415308696 rs1342563936 |
289 | C>S | No |
ClinGen TOPMed |
|
|
rs782260583 CA10558920 |
292 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10558922 rs782039891 |
296 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10558925 VAR_012015 rs1065440 |
298 | A>P | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
COSM172391 CA10558926 rs1065440 |
298 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782777199 CA10558927 |
301 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1557158004 CA415308966 |
303 | M>I | No |
ClinGen gnomAD |
|
|
rs782540205 CA10558929 |
305 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 308 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10558932 rs145631912 |
309 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782626484 CA10558933 |
310 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs782520080 CA10558935 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557158017 CA415309019 |
312 | K>R | No |
ClinGen gnomAD |
|
|
CA415309035 rs1557158018 |
314 | A>G | No |
ClinGen gnomAD |
|
|
CA415309040 rs1557158024 |
315 | T>N | No |
ClinGen gnomAD |
|
|
CA415309080 rs782292319 |
321 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs782292319 CA10558937 |
321 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10558938 rs782312823 |
322 | Y>H | No |
ClinGen ExAC |
|
|
CA415309123 rs1201703999 |
327 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA415309125 rs1490687236 |
327 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA415309124 rs1201703999 |
327 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA415309380 rs1557158115 |
362 | S>L | No |
ClinGen Ensembl |
2 associated diseases with P04000
[MIM: 303900]: Colorblindness, partial, protan series (CBP)
A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. {ECO:0000269|PubMed:12051694}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 303700]: Blue cone monochromacy (BCM)
A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269|PubMed:8213841, ECO:0000269|PubMed:8666378}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. {ECO:0000269|PubMed:12051694}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269|PubMed:8213841, ECO:0000269|PubMed:8666378}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P04000
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 66 - 330 | IPR017452 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| photoreceptor disc membrane | Stack of disc membranes located inside a photoreceptor outer segment, and containing densely packed molecules of photoreceptor proteins that traverse the lipid bilayer. Disc membranes arise as evaginations of the ciliary membrane during the development of the outer segment and may or may not remain contiguous with the ciliary membrane. |
| photoreceptor outer segment | The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled photoreceptor activity | Combining with incidental electromagnetic radiation, particularly visible light, and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
| photoreceptor activity | The function of absorbing and responding to incidental electromagnetic radiation, particularly visible light. The response may involve a change in conformation. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to light stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
| phototransduction | The sequence of reactions within a cell required to convert absorbed photons into a molecular signal. |
| positive regulation of cytokinesis | Any process that activates or increases the frequency, rate or extent of the division of the cytoplasm of a cell, and its separation into two daughter cells. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
120 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2YDN1 | GPR161 | G protein-coupled receptor 161 | Bos taurus (Bovine) | PR |
| Q0GBZ5 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Bos taurus (Bovine) | PR |
| Q17QD8 | GPR37L1 | G-protein coupled receptor 37-like 1 | Bos taurus (Bovine) | PR |
| Q8SPN1 | PROKR2 | Prokineticin receptor 2 | Bos taurus (Bovine) | PR |
| P46626 | ADRB3 | Beta-3 adrenergic receptor | Bos taurus (Bovine) | PR |
| O46639 | TRHR | Thyrotropin-releasing hormone receptor | Bos taurus (Bovine) | PR |
| Q8SPN2 | PROKR1 | Prokineticin receptor 1 | Bos taurus (Bovine) | PR |
| B9VR26 | CMLKR1 | Chemerin-like receptor 1 | Bos taurus (Bovine) | PR |
| P18130 | ADRA1A | Alpha-1A adrenergic receptor | Bos taurus (Bovine) | PR |
| B4XF06 | GPR39 | G-protein coupled receptor 39 | Bos taurus (Bovine) | PR |
| O18913 | OPN1LW | Long-wave-sensitive opsin 1 | Felis catus (Cat) (Felis silvestris catus) | PR |
| P28683 | PRA1 | Green-sensitive opsin | Gallus gallus (Chicken) | PR |
| Q9N298 | HTR1A | 5-hydroxytryptamine receptor 1A | Pan troglodytes (Chimpanzee) | PR |
| P08099 | Rh2 | Opsin Rh2 | Drosophila melanogaster (Fruit fly) | PR |
| P06002 | ninaE | Opsin Rh1 | Drosophila melanogaster (Fruit fly) | PR |
| Q4LBB9 | Octbeta2R | Octopamine receptor beta-2R | Drosophila melanogaster (Fruit fly) | PR |
| Q8NFJ6 | PROKR2 | Prokineticin receptor 2 | Homo sapiens (Human) | PR |
| Q13585 | GPR50 | Melatonin-related receptor | Homo sapiens (Human) | PR |
| Q9BZJ6 | GPR63 | Probable G-protein coupled receptor 63 | Homo sapiens (Human) | PR |
| Q9H3N8 | HRH4 | Histamine H4 receptor | Homo sapiens (Human) | PR |
| P28336 | NMBR | Neuromedin-B receptor | Homo sapiens (Human) | PR |
| Q9Y5Y3 | GPR45 | Probable G-protein coupled receptor 45 | Homo sapiens (Human) | PR |
| P08913 | ADRA2A | Alpha-2A adrenergic receptor | Homo sapiens (Human) | PR |
| P41597 | CCR2 | C-C chemokine receptor type 2 | Homo sapiens (Human) | PR |
| P51681 | CCR5 | C-C chemokine receptor type 5 | Homo sapiens (Human) | PR |
| Q8TCW9 | PROKR1 | Prokineticin receptor 1 | Homo sapiens (Human) | PR |
| Q99788 | CMKLR1 | Chemerin-like receptor 1 | Homo sapiens (Human) | PR |
| P08908 | HTR1A | 5-hydroxytryptamine receptor 1A | Homo sapiens (Human) | PR |
| P30559 | OXTR | Oxytocin receptor | Homo sapiens (Human) | PR |
| P32239 | CCKBR | Gastrin/cholecystokinin type B receptor | Homo sapiens (Human) | PR |
| O60883 | GPR37L1 | G-protein coupled receptor 37-like 1 | Homo sapiens (Human) | PR |
| Q8TDU9 | RXFP4 | Relaxin-3 receptor 2 | Homo sapiens (Human) | PR |
| P34972 | CNR2 | Cannabinoid receptor 2 | Homo sapiens (Human) | PR |
| P24530 | EDNRB | Endothelin receptor type B | Homo sapiens (Human) | PR |
| P35348 | ADRA1A | Alpha-1A adrenergic receptor | Homo sapiens (Human) | PR |
| Q6W5P4 | NPSR1 | Neuropeptide S receptor | Homo sapiens (Human) | PR |
| O43613 | HCRTR1 | Orexin/Hypocretin receptor type 1 | Homo sapiens (Human) | PR |
| P61073 | CXCR4 | C-X-C chemokine receptor type 4 | Homo sapiens (Human) | PR |
| Q9BXC0 | HCAR1 | Hydroxycarboxylic acid receptor 1 | Homo sapiens (Human) | PR |
| P30556 | AGTR1 | Type-1 angiotensin II receptor | Homo sapiens (Human) | PR |
| Q15761 | NPY5R | Neuropeptide Y receptor type 5 | Homo sapiens (Human) | PR |
| Q8N6U8 | GPR161 | G-protein coupled receptor 161 | Homo sapiens (Human) | PR |
| Q6DWJ6 | GPR139 | Probable G-protein coupled receptor 139 | Homo sapiens (Human) | PR |
| P21462 | FPR1 | fMet-Leu-Phe receptor | Homo sapiens (Human) | PR |
| P35414 | APLNR | Apelin receptor | Homo sapiens (Human) | PR |
| P46091 | CMKLR2 | Chemerin-like receptor 2 | Homo sapiens (Human) | PR |
| P32745 | SSTR3 | Somatostatin receptor type 3 | Homo sapiens (Human) | PR |
| P41439 | FOLR3 | Folate receptor gamma | Homo sapiens (Human) | PR |
| Q6U736 | OPN5 | Opsin-5 | Homo sapiens (Human) | PR |
| P04001 | OPN1MW | Medium-wave-sensitive opsin 1 | Homo sapiens (Human) | PR |
| P19973 | Lsp1 | Lymphocyte-specific protein 1 | Mus musculus (Mouse) | PR |
| O54799 | Nmbr | Neuromedin-B receptor | Mus musculus (Mouse) | PR |
| Q64264 | Htr1a | 5-hydroxytryptamine receptor 1A | Mus musculus (Mouse) | PR |
| P51675 | Ccr1 | C-C chemokine receptor type 1 | Mus musculus (Mouse) | PR |
| Q5U431 | Gpr39 | G-protein coupled receptor 39 | Mus musculus (Mouse) | PR |
| Q99JG2 | Gpr37l1 | G-protein coupled receptor 37-like 1 | Mus musculus (Mouse) | PR |
| P97295 | Npy2r | Neuropeptide Y receptor type 2 | Mus musculus (Mouse) | PR |
| O08786 | Cckar | Cholecystokinin receptor type A | Mus musculus (Mouse) | PR |
| P56481 | Cckbr | Gastrin/cholecystokinin type B receptor | Mus musculus (Mouse) | PR |
| P30731 | Gpr83 | G-protein coupled receptor 83 | Mus musculus (Mouse) | PR |
| P97468 | Cmklr1 | Chemerin-like receptor 1 | Mus musculus (Mouse) | PR |
| P21761 | Trhr | Thyrotropin-releasing hormone receptor | Mus musculus (Mouse) | PR |
| Q5QD16 | Taar3 | Trace amine-associated receptor 3 | Mus musculus (Mouse) | PR |
| P97292 | Hrh2 | Histamine H2 receptor | Mus musculus (Mouse) | PR |
| Q9EQQ3 | Gpr63 | Probable G-protein coupled receptor 63 | Mus musculus (Mouse) | PR |
| Q924H0 | Npffr2 | Neuropeptide FF receptor 2 | Mus musculus (Mouse) | PR |
| P34971 | Adrb1 | Beta-1 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q91ZY2 | Hrh4 | Histamine H4 receptor | Mus musculus (Mouse) | PR |
| O88416 | Gpr33 | Probable G-protein coupled receptor 33 | Mus musculus (Mouse) | PR |
| Q8K087 | Cmklr2 | Chemerin-like receptor 2 | Mus musculus (Mouse) | PR |
| P70658 | Cxcr4 | C-X-C chemokine receptor type 4 | Mus musculus (Mouse) | PR |
| Q9WV08 | Aplnr | Apelin receptor | Mus musculus (Mouse) | PR |
| P97718 | Adra1a | Alpha-1A adrenergic receptor | Mus musculus (Mouse) | PR |
| Q8BZP8 | Npsr1 | Neuropeptide S receptor | Mus musculus (Mouse) | PR |
| Q8K458 | Prokr2 | Prokineticin receptor 2 | Mus musculus (Mouse) | PR |
| P58308 | Hcrtr2 | Orexin receptor type 2 | Mus musculus (Mouse) | PR |
| Q7TQP3 | Gpr119 | Glucose-dependent insulinotropic receptor | Mus musculus (Mouse) | PR |
| Q8BGE9 | Rxfp3 | Relaxin-3 receptor 1 | Mus musculus (Mouse) | PR |
| Q6VZZ7 | Opn5 | Opsin-5 | Mus musculus (Mouse) | PR |
| Q8CIM5 | Gpr84 | G-protein coupled receptor 84 | Mus musculus (Mouse) | PR |
| P25962 | Adrb3 | Beta-3 adrenergic receptor | Mus musculus (Mouse) | PR |
| Q80UC8 | Gpr139 | Probable G-protein coupled receptor 139 | Mus musculus (Mouse) | PR |
| P0C5I1 | Gpr25 | Probable G-protein coupled receptor 25 | Mus musculus (Mouse) | PR |
| P47936 | Cnr2 | Cannabinoid receptor 2 | Mus musculus (Mouse) | PR |
| Q5QD13 | Taar6 | Trace amine-associated receptor 6 | Mus musculus (Mouse) | PR |
| P35846 | Folr1 | Folate receptor alpha | Mus musculus (Mouse) | PR |
| P58307 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Mus musculus (Mouse) | PR |
| Q8C131 | Hcar1 | Hydroxycarboxylic acid receptor 1 | Mus musculus (Mouse) | PR |
| Q9EQQ4 | Gpr45 | Probable G-protein coupled receptor 45 | Mus musculus (Mouse) | PR |
| B2RPY5 | Gpr161 | G-protein coupled receptor 161 | Mus musculus (Mouse) | PR |
| Q764M9 | CXCR4 | C-X-C chemokine receptor type 4 | Sus scrofa (Pig) | PR |
| Q9EQD2 | Npffr2 | Neuropeptide FF receptor 2 | Rattus norvegicus (Rat) | PR |
| O08565 | Cxcr4 | C-X-C chemokine receptor type 4 | Rattus norvegicus (Rat) | PR |
| Q01717 | Trhr | Thyrotropin-releasing hormone receptor | Rattus norvegicus (Rat) | PR |
| P30936 | Sstr3 | Somatostatin receptor type 3 | Rattus norvegicus (Rat) | PR |
| Q9JHG3 | Aplnr | Apelin receptor | Rattus norvegicus (Rat) | PR |
| P43140 | Adra1a | Alpha-1A adrenergic receptor | Rattus norvegicus (Rat) | PR |
| P19327 | Htr1a | 5-hydroxytryptamine receptor 1A | Rattus norvegicus (Rat) | PR |
| P56719 | Hcrtr2 | Orexin receptor type 2 | Rattus norvegicus (Rat) | PR |
| P28564 | Htr1b | 5-hydroxytryptamine receptor 1B | Rattus norvegicus (Rat) | PR |
| P56718 | Hcrtr1 | Orexin/Hypocretin receptor type 1 | Rattus norvegicus (Rat) | PR |
| P28647 | Adora3 | Adenosine receptor A3 | Rattus norvegicus (Rat) | PR |
| P25102 | Hrh2 | Histamine H2 receptor | Rattus norvegicus (Rat) | PR |
| P23944 | Adra1d | Alpha-1D adrenergic receptor | Rattus norvegicus (Rat) | PR |
| Q8R415 | Prokr2 | Prokineticin receptor 2 | Rattus norvegicus (Rat) | PR |
| Q5QD24 | Taar3 | Trace amine-associated receptor 3 | Rattus norvegicus (Rat) | PR |
| P0C0W8 | Gpr139 | Probable G-protein coupled receptor 139 | Rattus norvegicus (Rat) | PR |
| P35370 | Oprl1 | Nociceptin receptor | Rattus norvegicus (Rat) | PR |
| P46090 | Cmklr2 | Chemerin-like receptor 2 | Rattus norvegicus (Rat) | PR |
| O97664 | CMKLR2 | Chemerin-like receptor 2 | Macaca mulatta (Rhesus macaque) | PR |
| O97666 | APLNR | Apelin receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q56H79 | NPSR1 | Neuropeptide S receptor | Macaca mulatta (Rhesus macaque) | PR |
| Q18904 | npr-8 | Probable G-protein coupled receptor npr-8 | Caenorhabditis elegans | PR |
| Q09388 | gar-2 | Muscarinic acetylcholine receptor gar-2 | Caenorhabditis elegans | PR |
| B3DM66 | gpr161 | G-protein coupled receptor 161 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q9W6A6 | opn1mw4 | Green-sensitive opsin-4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q9W6A5 | opn1mw1 | Green-sensitive opsin-1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYM7 | opn1mw3 | Green-sensitive opsin-3 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q90X46 | gpr161 | G-protein coupled receptor 161 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q8AYN0 | opn1lw2 | Red-sensitive opsin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQQWSLQRL | AGRHPQDSYE | DSTQSSIFTY | TNSNSTRGPF | EGPNYHIAPR | WVYHLTSVWM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IFVVTASVFT | NGLVLAATMK | FKKLRHPLNW | ILVNLAVADL | AETVIASTIS | IVNQVSGYFV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGHPMCVLEG | YTVSLCGITG | LWSLAIISWE | RWMVVCKPFG | NVRFDAKLAI | VGIAFSWIWA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AVWTAPPIFG | WSRYWPHGLK | TSCGPDVFSG | SSYPGVQSYM | IVLMVTCCII | PLAIIMLCYL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QVWLAIRAVA | KQQKESESTQ | KAEKEVTRMV | VVMIFAYCVC | WGPYTFFACF | AAANPGYAFH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLMAALPAYF | AKSATIYNPV | IYVFMNRQFR | NCILQLFGKK | VDDGSELSSA | SKTEVSSVSS |
| VSPA |