| UniProt Protein Function: | GPR179: Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. Defects in GPR179 are the cause of congenital stationary night blindness type 1E (CSNB1E). An autosomal recessive, non-progressive retinal disorder characterized by impaired night vision, absence of the electroretinogram (ERG) b- wave, and variable degrees of involvement of other visual functions. Affected individuals have an ERG waveform that lacks the b-wave because of failure to transmit the photoreceptor signal through the retinal depolarizing bipolar cells. Belongs to the G-protein coupled receptor 3 family.Protein type: GPCR, family 3; Membrane protein, integral; Membrane protein, multi-pass; Receptor, GPCRChromosomal Location of Human Ortholog: 17q12Cellular Component: integral component of membrane; plasma membraneMolecular Function: G-protein coupled receptor activityBiological Process: G-protein coupled receptor signaling pathway; visual perceptionDisease: Night Blindness, Congenital Stationary, Type 1e |
| UniProt Protein Details: | |
| NCBI Summary: | This gene encodes a member of the glutamate receptor subfamily of G protein-coupled receptors. The encoded protein has an EGF-like calcium binding domain and a seven transmembrane domain in the N-terminal region of the protein. Mutations in this gene are associated with congenital stationary night blindness type 1E. [provided by RefSeq, Apr 2012] |
| UniProt Code: | Q6PRD1 |
| NCBI GenInfo Identifier: | 629266054 |
| NCBI Gene ID: | 440435 |
| NCBI Accession: | NP_001004334.3 |
| UniProt Secondary Accession: | Q6PRD1 |
| UniProt Related Accession: | Q6PRD1 |
| Molecular Weight: | |
| NCBI Full Name: | probable G-protein coupled receptor 179 |
| NCBI Synonym Full Names: | G protein-coupled receptor 179 |
| NCBI Official Symbol: | GPR179Â Â |
| NCBI Official Synonym Symbols: | CSNB1E; GPR158L; GPR158L1Â Â |
| NCBI Protein Information: | probable G-protein coupled receptor 179 |
| UniProt Protein Name: | Probable G-protein coupled receptor 179 |
| UniProt Synonym Protein Names: | Probable G-protein coupled receptor 158-like 1; GPR158-like |
| Protein Family: | |
| UniProt Gene Name: | GPR179Â Â |
| UniProt Entry Name: | |
