| AgACC | Ag003642 |
| Date | 19-08-2008 |
| Last updated | 14-12-2016 |
| Antigen Name | GPR143 |
| Common Name | OA1 |
| Full Name | G protein-coupled receptor 143 |
| Synonym | G-protein coupled receptor 143; Ocular albinism type 1 protein; ocular albinism 1 (Nettleship-Falls); ocular albinism-1; Nettleship-Falls type; OA1; GPR143
another display format
- G-protein coupled receptor 143
- Ocular albinism type 1 protein
- ocular albinism 1 (Nettleship-Falls)
- ocular albinism-1
- Nettleship-Falls type
- OA1
- GPR143
|
| UniProt ID | P51810
|
| NCBI Gene ID | 4935 |
| GeneCard ID | GC0XM009725 |
| SwissProt VARIANT ID | VAR_018134 |
| Comment | Ocular albinism type 1 (OA1) - Defects in GPR143 are the cause of ocular albinism type 1; also known as Nettleship-Falls type ocular albinism. OA1 is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes; Abolishes interaction with G-proteins |
| Annotation | This is a fragment sequence. |
| Isoforms | Ag000216, Ag001900
Alignment of all Isoforms |
| Mutation entries | Ag003634, Ag003635, Ag003636, Ag003637, Ag003638, Ag003639, Ag003640, Ag003641, Ag003642, Ag003643, Ag003644, Ag003645, Ag003646, Ag003647, Ag003648, Ag003649, Ag003650, Ag003651, Ag003652, Ag003653, Ag003654, Ag003655, Ag003656, Ag003657
View mutation map |
| RNA/protein expression profile | RNA and protein Expression profile |
| T cell epitope | Epitope sequence | Position | HLA allele | Reference |
| LYSACFWWL | 31-39 | A24 |
12538723 |
| Predicted HLA binders | |
| Reference sequence | PNFVDSVSDMNHTEIWPAAFCVGSAMWIQLLYSACFWWLFC |
| Antigen sequence | PNFVDSVSDMNHTEIWPAAFSVGSAMWIQLLYSACFWWLFC |