P15813
Gene name |
CD1D |
Protein name |
Antigen-presenting glycoprotein CD1d |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:912 |
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

20 structures for P15813
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1ZT4 | X-ray | 300 A | A/C | 19-299 | PDB |
2PO6 | X-ray | 320 A | A/E | 24-295 | PDB |
3HUJ | X-ray | 250 A | A/C | 21-295 | PDB |
3SDX | X-ray | 312 A | A/C | 24-295 | PDB |
3TZV | X-ray | 306 A | C | 21-295 | PDB |
3U0P | X-ray | 280 A | A/C/E | 21-295 | PDB |
3VWJ | X-ray | 309 A | A | 21-295 | PDB |
3VWK | X-ray | 294 A | A | 21-295 | PDB |
4EN3 | X-ray | 257 A | C | 21-295 | PDB |
4LHU | X-ray | 287 A | A | 24-295 | PDB |
4MNG | X-ray | 301 A | A/C | 21-201 | PDB |
4MQ7 | X-ray | 260 A | A | 21-202 | PDB |
4WO4 | X-ray | 250 A | A | 24-295 | PDB |
4WW2 | X-ray | 248 A | C | 21-295 | PDB |
4WWK | X-ray | 310 A | C | 21-295 | PDB |
6V7Y | X-ray | 240 A | A | 23-296 | PDB |
6V7Z | X-ray | 275 A | A/C | 23-296 | PDB |
6V80 | X-ray | 353 A | A/F | 23-296 | PDB |
8SOS | X-ray | 233 A | A/E | 23-296 | PDB |
AF-P15813-F1 | Predicted | AlphaFoldDB |
322 variants for P15813
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1413615456 CA342984549 COSM897672 |
2 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs967067063 CA342984570 |
3 | C>S | No |
ClinGen TOPMed gnomAD |
|
rs967067063 CA31217353 |
3 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA31217360 rs1004363577 |
5 | L>P | No |
ClinGen Ensembl |
|
rs746264656 CA1177963 |
7 | L>M | No |
ClinGen ExAC gnomAD |
|
CA342984623 rs1354699291 |
7 | L>P | No |
ClinGen gnomAD |
|
rs1421587364 CA342984636 |
9 | L>F | No |
ClinGen TOPMed |
|
CA342984635 rs1421587364 |
9 | L>V | No |
ClinGen TOPMed |
|
CA1177965 rs575858932 |
11 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA31217471 rs955133347 |
13 | L>F | No |
ClinGen TOPMed |
|
rs768289152 CA1177969 |
14 | Q>* | No |
ClinGen ExAC |
|
CA1177970 rs776132124 |
15 | A>P | No |
ClinGen ExAC |
|
CA31217493 rs1030947818 |
16 | W>C | No |
ClinGen Ensembl |
|
rs761264753 CA1177971 |
16 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342984735 rs761264753 |
16 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1181570854 CA342984748 |
17 | G>R | No |
ClinGen gnomAD |
|
rs986366494 CA31217499 |
21 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs986366494 CA342984825 |
21 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA1177991 rs563464986 |
24 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs762862302 CA1177992 |
26 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765927009 CA1177993 |
27 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA342985515 rs1424286438 |
28 | L>F | No |
ClinGen gnomAD |
|
CA342985513 rs1424286438 |
28 | L>I | No |
ClinGen gnomAD |
|
CA342985521 rs1467075339 |
29 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs1162545934 CA342985534 |
31 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA342985533 rs1162545934 |
31 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA342985543 rs1571063260 |
32 | Q>R | No |
ClinGen Ensembl |
|
rs774026057 CA1177994 |
33 | I>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 34 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1177995 rs759322259 |
35 | S>F | No |
ClinGen ExAC gnomAD |
|
rs764442092 CA1177996 |
36 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342985578 rs1224733607 |
38 | N>D | No |
ClinGen TOPMed |
|
CA1177998 rs145764530 |
38 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs534777032 CA1177997 |
38 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs765463924 CA1178000 |
41 | W>R | No |
ClinGen ExAC gnomAD |
|
rs150689409 CA1178001 |
41 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA342985606 rs1417307672 |
42 | T>P | No |
ClinGen TOPMed |
|
CA1178003 rs780562127 |
43 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1178004 rs571302746 |
43 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA342985620 rs1404587858 |
44 | T>S | No |
ClinGen TOPMed |
|
rs755379238 CA1178005 |
45 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA342985631 rs1412947803 |
46 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1178009 rs769435157 |
48 | A>T | No |
ClinGen ExAC |
|
TCGA novel | 49 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1178011 rs147976430 RCV000898682 |
49 | W>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1298885559 CA342985663 |
51 | G>A | No |
ClinGen gnomAD |
|
rs1298885559 CA342985661 |
51 | G>E | No |
ClinGen gnomAD |
|
rs754739489 CA31217921 |
51 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs754739489 CA31217923 |
51 | G>W | No |
ClinGen TOPMed gnomAD |
|
CA1178012 rs770791482 |
52 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774300975 CA31217927 |
52 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 52 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1178013 rs774300975 |
52 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1558043720 CA342985670 |
53 | L>V | No |
ClinGen Ensembl |
|
CA342985677 rs1571063584 |
54 | Q>P | No |
ClinGen Ensembl |
|
CA342985683 rs759359465 |
55 | T>A | No |
ClinGen ExAC gnomAD |
|
rs150540703 CA1178015 COSM239221 |
55 | T>M | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA1178014 rs759359465 |
55 | T>S | No |
ClinGen ExAC gnomAD |
|
rs775409915 CA1178016 |
56 | H>N | No |
ClinGen ExAC gnomAD |
|
CA31217935 rs369994630 |
57 | S>R | No |
ClinGen ESP TOPMed |
|
rs1238892190 CA342985715 |
59 | S>R | No |
ClinGen gnomAD |
|
CA342985723 rs1286282747 |
60 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA1178017 rs762132850 |
61 | D>N | No |
ClinGen ExAC gnomAD |
|
COSM1498718 rs765499678 CA1178018 |
62 | S>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA342985746 rs62621276 |
64 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1178019 VAR_010211 rs62621276 RCV000955795 |
64 | T>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA342985754 rs1483508575 |
65 | V>A | No |
ClinGen gnomAD |
|
CA1178020 rs139809600 |
66 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1178021 rs373808437 |
66 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs764778150 CA31217988 |
67 | S>F | No |
ClinGen Ensembl |
|
CA342985777 rs1438843876 |
69 | K>N | No |
ClinGen gnomAD |
|
CA31217992 rs868344809 |
72 | S>F | No |
ClinGen gnomAD |
|
CA1178023 rs755467075 |
73 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA31218015 rs751998026 |
77 | S>I | No |
ClinGen ExAC gnomAD |
|
CA1178024 rs751998026 |
77 | S>N | No |
ClinGen ExAC gnomAD |
|
rs755775062 CA1178026 |
78 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1178028 rs757525630 |
79 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342985902 rs1309581816 |
80 | Q>E | No |
ClinGen gnomAD |
|
CA342985905 rs1355355544 |
80 | Q>R | No |
ClinGen gnomAD |
|
rs773711451 CA1178031 |
81 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773711451 CA1178030 |
81 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA31218033 rs770514010 |
81 | W>G | No |
ClinGen ExAC gnomAD |
|
CA1178029 rs770514010 |
81 | W>R | No |
ClinGen ExAC gnomAD |
|
CA342985943 rs1418909519 |
86 | H>D | No |
ClinGen TOPMed |
|
rs1457194054 CA342985950 |
87 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA342985965 COSM3802348 rs920079330 |
89 | R>W | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA342985971 rs1425794734 |
90 | V>F | No |
ClinGen TOPMed |
|
TCGA novel | 92 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1178035 rs770171229 |
92 | R>G | No |
ClinGen ExAC gnomAD |
|
CA31218104 rs1049934456 |
94 | S>G | No |
ClinGen Ensembl |
|
CA342985998 rs1240298917 |
94 | S>T | No |
ClinGen gnomAD |
|
rs773523873 CA1178036 |
95 | F>C | No |
ClinGen ExAC gnomAD |
|
rs763067209 CA1178037 |
96 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342986017 rs1425881954 |
97 | R>T | No |
ClinGen gnomAD |
|
CA342986025 rs1488479163 |
98 | D>G | No |
ClinGen TOPMed |
|
COSM1247663 CA342986029 rs1245473930 |
99 | V>M | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA1178039 rs200638686 |
100 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1178041 rs540329660 |
100 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA342986057 rs1469165638 |
103 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA342986069 rs1378667244 |
104 | K>N | No |
ClinGen gnomAD |
|
CA31218126 rs947265466 |
104 | K>R | No |
ClinGen TOPMed |
|
CA1178043 rs756425870 |
106 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1433771195 CA342986079 |
106 | L>V | No |
ClinGen gnomAD |
|
rs1220430860 CA342986086 |
107 | R>H | No |
ClinGen gnomAD |
|
CA1178046 rs145209409 |
108 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1199062111 | 109 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs199803276 CA31218459 |
112 | L>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA1178072 rs747843388 |
113 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1243821135 CA342986156 |
116 | V>L | No |
ClinGen gnomAD |
|
CA342986161 rs1284508937 |
117 | S>P | No |
ClinGen gnomAD |
|
rs142254126 CA1178073 |
118 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs142254126 CA31218486 |
118 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA342986170 rs1295329954 |
119 | G>S | No |
ClinGen TOPMed |
|
rs1488686000 CA342986201 |
123 | H>P | No |
ClinGen gnomAD |
|
CA342986224 rs772184982 |
126 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA31218541 rs376234152 |
129 | N>D | No |
ClinGen ESP gnomAD |
|
rs376234152 CA342986238 |
129 | N>H | No |
ClinGen ESP gnomAD |
|
CA342986239 rs376234152 |
129 | N>Y | No |
ClinGen ESP gnomAD |
|
TCGA novel | 130 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1558044142 CA342986245 |
130 | N>Y | No |
ClinGen Ensembl |
|
CA1178077 rs775533162 COSM414416 |
131 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1296914455 CA342986254 |
131 | F>V | No |
ClinGen TOPMed |
|
CA342986256 rs1482929947 |
131 | F>Y | No |
ClinGen gnomAD |
|
rs764439411 CA342986265 CA1178079 |
132 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761312127 CA1178078 |
132 | F>Y | No |
ClinGen ExAC gnomAD |
|
rs777065653 CA1178081 |
133 | H>L | No |
ClinGen ExAC gnomAD |
|
rs777065653 CA1178080 |
133 | H>R | No |
ClinGen ExAC gnomAD |
|
rs750151889 CA1178083 |
134 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 135 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1178085 rs149673076 |
137 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1473022956 CA342986323 |
141 | I>N | No |
ClinGen TOPMed gnomAD |
|
CA342986337 rs1308853719 |
143 | S>I | No |
ClinGen gnomAD |
|
CA31218640 rs141459313 |
145 | Q>P | No |
ClinGen ESP |
|
CA31218659 rs866317924 |
146 | G>E | No |
ClinGen Ensembl |
|
rs748002385 CA342986355 CA1178089 |
146 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 146 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1201598310 CA342986364 |
147 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA342986363 rs1201598310 |
147 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA1178092 rs150267466 |
150 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs777519162 COSM1601017 CA1178091 |
150 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA342986396 rs1359105831 |
152 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA342986397 rs1359105831 |
152 | T>N | No |
ClinGen TOPMed gnomAD |
|
CA31218695 rs944463487 |
153 | Q>E | No |
ClinGen Ensembl |
|
CA342986410 rs1237224499 |
154 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs112389115 CA31218702 |
154 | E>G | No |
ClinGen Ensembl |
|
rs1439861535 CA342986414 |
155 | A>S | No |
ClinGen gnomAD |
|
rs1276312770 CA342986420 |
156 | P>S | No |
ClinGen TOPMed |
|
CA342986444 rs1229698345 |
159 | V>G | No |
ClinGen TOPMed |
|
rs775551491 CA1178095 |
160 | N>H | No |
ClinGen ExAC gnomAD |
|
CA342986453 COSM1247665 rs1173138241 |
161 | L>V | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
rs1463895346 CA342986464 |
162 | A>V | No |
ClinGen gnomAD |
|
CA1178097 rs769237588 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA31218720 rs573460385 |
166 | L>H | No |
ClinGen Ensembl |
|
rs569192974 CA1178099 |
166 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1234034510 CA342986514 |
170 | K>E | No |
ClinGen gnomAD |
|
CA1178102 COSM463196 rs536931854 |
172 | T>K | kidney Variant assessed as Somatic; 0.0003234 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs536931854 CA1178101 |
172 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs555012544 CA1178103 |
175 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1178104 rs751106209 |
176 | V>E | No |
ClinGen ExAC gnomAD |
|
rs1464715218 CA342986565 |
177 | Q>H | No |
ClinGen TOPMed |
|
rs754401833 CA1178105 |
178 | W>* | No |
ClinGen ExAC gnomAD |
|
rs754401833 CA1178106 CA342986573 |
178 | W>C | No |
ClinGen ExAC gnomAD |
|
CA342986569 rs1259029374 |
178 | W>G | No |
ClinGen gnomAD |
|
CA342986591 rs1197239916 |
181 | N>I | No |
ClinGen TOPMed gnomAD |
|
CA342986590 rs1197239916 |
181 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs370390485 CA1178109 |
182 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
rs756062333 CA1178108 |
182 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342986594 rs756062333 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA31218821 rs934301784 |
185 | P>L | No |
ClinGen Ensembl |
|
CA342986619 rs1369461190 |
186 | Q>* | No |
ClinGen gnomAD |
|
CA1178111 rs758632260 |
187 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780199550 CA1178112 |
190 | G>C | No |
ClinGen ExAC gnomAD |
|
CA1178113 rs747224165 |
190 | G>D | No |
ClinGen ExAC gnomAD |
|
rs768667642 CA1178114 |
191 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 191 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs781320176 CA1178115 |
192 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA342986673 rs1553250499 |
194 | S>L | No |
ClinGen Ensembl |
|
rs770361108 CA1178117 |
195 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1387458914 CA342986674 |
195 | G>R | No |
ClinGen gnomAD |
|
CA1178118 rs773729311 |
196 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342986689 rs149463702 |
197 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1178119 rs149463702 |
197 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759201645 CA31218915 |
198 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759201645 CA1178122 |
198 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 200 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1487925959 CA342986726 |
203 | V>M | No |
ClinGen gnomAD |
|
CA342986757 rs1195945025 |
205 | P>H | No |
ClinGen TOPMed |
|
TCGA novel | 206 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 206 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1178158 rs756299315 |
207 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756299315 COSM1335139 CA31219403 |
207 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA342986767 rs1237218636 |
207 | A>V | No |
ClinGen TOPMed |
|
rs1571066666 CA342986774 |
208 | W>L | No |
ClinGen Ensembl |
|
CA31219415 rs566569460 |
208 | W>R | No |
ClinGen gnomAD |
|
rs1175071315 CA342986781 |
209 | L>P | No |
ClinGen TOPMed |
|
rs750887347 CA1178160 |
211 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs757831900 CA1178161 |
211 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs757831900 CA342986792 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1342871267 CA342986793 |
212 | G>C | No |
ClinGen TOPMed gnomAD |
|
CA342986796 rs1558044864 |
212 | G>D | No |
ClinGen Ensembl |
|
TCGA novel | 214 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs539075437 CA31219439 |
216 | G>D | No |
ClinGen gnomAD |
|
COSM1335140 CA1178163 rs147417067 |
218 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
COSM1644482 CA1178165 rs775167221 |
219 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs199860570 CA1178166 |
219 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs768212638 CA1178167 |
220 | L>P | No |
ClinGen ExAC gnomAD |
|
CA1178169 CA342986854 rs761745102 |
223 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765167318 CA1178170 |
224 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772906466 CA1178171 |
225 | H>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 227 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766059814 CA1178173 |
228 | G>R | No |
ClinGen ExAC gnomAD |
|
CA342986903 rs1466445844 |
230 | Y>* | No |
ClinGen gnomAD |
|
rs569233577 CA1178175 |
231 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA342986922 rs1355878184 |
233 | P>L | No |
ClinGen gnomAD |
|
rs1433700746 CA342986924 |
234 | V>I | No |
ClinGen TOPMed gnomAD |
|
TCGA novel CA342986940 rs1346074244 |
236 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
rs764333911 CA1178177 |
238 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1022444364 CA31219516 |
239 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs779426050 CA1178181 |
240 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779426050 CA31219543 |
240 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1178180 rs779426050 |
240 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs139209490 CA1178178 |
240 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1178183 rs367746380 |
241 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs367746380 CA1178184 |
241 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758837390 CA1178182 |
241 | G>S | No |
ClinGen ExAC |
|
TCGA novel | 242 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA31219557 rs149772303 CA1178185 |
242 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1178187 rs776133854 |
244 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342986998 rs1487841401 |
245 | Q>R | No |
ClinGen TOPMed |
|
rs948414574 CA31219605 |
246 | Q>* | No |
ClinGen Ensembl |
|
rs773245435 CA1178191 |
247 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1240900532 CA342987009 |
247 | G>S | No |
ClinGen TOPMed |
|
CA1178192 rs762773829 |
248 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1178193 rs766250843 |
250 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs1406224009 CA342987035 |
251 | G>E | No |
ClinGen gnomAD |
|
CA1178195 rs748004286 |
252 | D>N | No |
ClinGen ExAC gnomAD |
|
rs748004286 CA342987039 |
252 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA1178196 rs764352305 |
253 | I>F | No |
ClinGen ExAC gnomAD |
|
CA1178197 rs764352305 |
253 | I>V | No |
ClinGen ExAC gnomAD |
|
rs757319382 CA1178198 |
254 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1178199 rs371913497 |
255 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs750996933 CA31219705 |
256 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1178200 rs750996933 |
256 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1178201 rs758827375 |
258 | D>G | No |
ClinGen ExAC gnomAD |
|
CA1178203 COSM1335141 rs182855664 |
259 | E>K | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs754650454 CA1178204 |
260 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342987098 rs1448022182 |
261 | W>C | No |
ClinGen gnomAD |
|
CA342987095 rs1287550250 |
261 | W>L | No |
ClinGen TOPMed |
|
CA1178205 COSM424211 rs144272399 |
264 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1364058193 CA342987114 |
264 | R>Q | No |
ClinGen TOPMed |
|
rs920387491 CA31219754 |
268 | D>A | No |
ClinGen TOPMed |
|
CA1178207 rs769399031 |
268 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1347896354 CA342987150 |
270 | V>A | No |
ClinGen gnomAD |
|
CA31219798 rs930404466 |
273 | E>D | No |
ClinGen TOPMed |
|
rs774299268 CA1178211 |
276 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1320206921 CA342987189 |
277 | L>V | No |
ClinGen gnomAD |
|
CA1178213 rs559158267 |
278 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs777032434 CA1178214 |
278 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1316027050 CA342987202 |
279 | C>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs200278882 CA31219874 |
280 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
rs529047977 CA31219854 |
280 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1571067328 CA342987213 |
281 | V>G | No |
ClinGen Ensembl |
|
CA342987208 rs1558045294 |
281 | V>M | No |
ClinGen Ensembl |
|
rs1285313056 CA342987226 |
283 | H>P | No |
ClinGen gnomAD |
|
CA1178217 rs143328267 |
284 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1178218 rs750404418 |
284 | S>N | No |
ClinGen ExAC gnomAD |
|
CA1178219 rs772985800 |
287 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766824137 CA1178220 |
288 | G>S | No |
ClinGen ExAC gnomAD |
|
CA342987266 rs1295275943 |
289 | Q>R | No |
ClinGen TOPMed |
|
TCGA novel | 290 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1178221 rs140583445 |
291 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1178222 rs140583445 |
291 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1178223 rs375741058 |
292 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145809444 CA1178224 |
293 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145809444 CA1178225 |
293 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1178227 rs142766597 |
294 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1178228 rs142766597 |
294 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA342987299 rs1333067532 |
295 | W>R | No |
ClinGen gnomAD |
|
rs778952737 CA1178229 |
295 | W>S | No |
ClinGen ExAC gnomAD |
|
CA1178253 rs749493376 |
297 | G>R | No |
ClinGen ExAC gnomAD |
|
CA1178254 rs137976547 |
298 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA342987440 rs1571068667 |
299 | Y>S | No |
ClinGen Ensembl |
|
CA342987450 rs972355579 |
300 | T>N | No |
ClinGen TOPMed |
|
CA31220774 rs972355579 |
300 | T>S | No |
ClinGen TOPMed |
|
TCGA novel | 301 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1025315515 CA31220777 |
301 | S>P | No |
ClinGen Ensembl |
|
rs760036601 CA1178256 |
302 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1178255 rs774406527 |
302 | M>T | No |
ClinGen ExAC gnomAD |
|
CA342987481 rs1264733068 |
304 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1490039538 CA342987505 |
306 | A>S | No |
ClinGen gnomAD |
|
rs767850265 CA1178257 |
306 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1178258 rs371189130 |
308 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1440071537 CA342987525 |
308 | A>V | No |
ClinGen TOPMed |
|
rs760905720 CA1178259 |
309 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 310 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771849884 CA31220805 |
311 | A>S | No |
ClinGen Ensembl |
|
rs764487486 CA1178260 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
rs756955835 CA342987545 |
312 | C>F | No |
ClinGen ExAC gnomAD |
|
CA1178262 rs756955835 |
312 | C>S | No |
ClinGen ExAC gnomAD |
|
rs764844829 CA1178263 |
313 | L>F | No |
ClinGen ExAC gnomAD |
|
rs543208774 CA1178264 |
316 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs543208774 CA31220849 |
316 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1015180156 CA31220867 |
317 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1336157900 CA342987573 |
317 | L>H | No |
ClinGen gnomAD |
|
CA342987581 rs1406758325 |
318 | I>M | No |
ClinGen TOPMed |
|
CA1178266 rs779817716 |
318 | I>T | No |
ClinGen ExAC gnomAD |
|
CA1178268 rs754781761 |
320 | G>S | No |
ClinGen ExAC gnomAD |
|
CA1178269 rs140353863 |
322 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA31220900 rs140353863 |
322 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA342987610 rs1270990954 |
323 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs774424909 CA1178272 |
324 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs771070810 CA1178271 |
324 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA342987623 rs1185754587 |
326 | K>E | No |
ClinGen gnomAD |
|
CA342987637 rs1384814626 |
328 | Q>K | No |
ClinGen gnomAD |
|
CA342987641 rs1425402860 |
328 | Q>R | No |
ClinGen gnomAD |
|
COSM3399837 rs772663580 CA1178274 |
329 | T>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA342987693 rs1453004060 |
330 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs747537286 CA1178294 |
331 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs747537286 CA342987699 |
331 | Y>S | No |
ClinGen ExAC gnomAD |
|
rs769149377 CA1178295 |
333 | G>V | No |
ClinGen ExAC gnomAD |
|
rs777157013 CA342987725 |
334 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777157013 COSM1601019 CA1178296 |
334 | V>I | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
No associated diseases with P15813
Functions
12 GO annotations of cellular component
Name | Definition |
---|---|
basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
cell surface | The external part of the cell wall and/or plasma membrane. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
endosome membrane | The lipid bilayer surrounding an endosome. |
external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
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. |
lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
Name | Definition |
---|---|
beta-2-microglobulin binding | Binding to beta-2-microglobulin. |
cell adhesion molecule binding | Binding to a cell adhesion molecule. |
endogenous lipid antigen binding | Binding to an endogenous cellular lipid antigen. |
exogenous lipid antigen binding | Binding to an exogenous lipid antigen (examples include microbial lipids and glycolipids). |
histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
lipid antigen binding | Binding to a lipid antigen. |
lipopeptide binding | Binding to a lipopeptide, any of a group of organic compounds comprising two or more amino acids linked by peptide bonds and containing a nonprotein group consisting of a lipid or lipids. |
9 GO annotations of biological process
Name | Definition |
---|---|
antigen processing and presentation, endogenous lipid antigen via MHC class Ib | The process in which an antigen-presenting cell expresses lipid antigen of endogenous origin in association with an MHC class Ib protein complex on its cell surface. Class Ib here refers to non-classical class I molecules, such as those of the CD1 family. |
antigen processing and presentation, exogenous lipid antigen via MHC class Ib | The process in which an antigen-presenting cell expresses lipid antigen of exogenous origin in association with an MHC class Ib protein complex on its cell surface. Class Ib here refers to non-classical class I molecules, such as those of the CD1 family. |
detection of bacterium | The series of events in which a stimulus from a bacterium is received and converted into a molecular signal. |
heterotypic cell-cell adhesion | The attachment of a cell to a cell of a different type via adhesion molecules. |
innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
positive regulation of innate immune response | Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. |
positive regulation of T cell mediated cytotoxicity | Any process that activates or increases the frequency, rate or extent of T cell mediated cytotoxicity. |
positive regulation of T cell proliferation | Any process that activates or increases the rate or extent of T cell proliferation. |
T cell selection | The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. |
5 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q4ACW4 | CD1D | Antigen-presenting glycoprotein CD1d | Pan troglodytes (Chimpanzee) | PR |
P29017 | CD1C | T-cell surface glycoprotein CD1c | Homo sapiens (Human) | PR |
Q9BZM4 | ULBP3 | UL16-binding protein 3 | Homo sapiens (Human) | PR |
P55899 | FCGRT | IgG receptor FcRn large subunit p51 | Homo sapiens (Human) | PR |
Q63493 | Cd1d | Antigen-presenting glycoprotein CD1d | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MGCLLFLLLW | ALLQAWGSAE | VPQRLFPLRC | LQISSFANSS | WTRTDGLAWL | GELQTHSWSN |
70 | 80 | 90 | 100 | 110 | 120 |
DSDTVRSLKP | WSQGTFSDQQ | WETLQHIFRV | YRSSFTRDVK | EFAKMLRLSY | PLELQVSAGC |
130 | 140 | 150 | 160 | 170 | 180 |
EVHPGNASNN | FFHVAFQGKD | ILSFQGTSWE | PTQEAPLWVN | LAIQVLNQDK | WTRETVQWLL |
190 | 200 | 210 | 220 | 230 | 240 |
NGTCPQFVSG | LLESGKSELK | KQVKPKAWLS | RGPSPGPGRL | LLVCHVSGFY | PKPVWVKWMR |
250 | 260 | 270 | 280 | 290 | 300 |
GEQEQQGTQP | GDILPNADET | WYLRATLDVV | AGEAAGLSCR | VKHSSLEGQD | IVLYWGGSYT |
310 | 320 | 330 | |||
SMGLIALAVL | ACLLFLLIVG | FTSRFKRQTS | YQGVL |