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UniProt functional annotation for Q6PRD1 | ||
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| UniProt code: Q6PRD1. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Orphan receptor, involved in vision. Required for signal transduction through retinal depolarizing bipolar cells. {ECO:0000269|PubMed:22325362}. |
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| Subcellular location: | |
Cell membrane; Multi-pass membrane protein. |
| Tissue specificity: | |
Expressed in the retina. {ECO:0000269|PubMed:22325361}. |
| Disease: | |
Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]: 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. {ECO:0000269|PubMed:22325361, ECO:0000269|PubMed:22325362}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the G-protein coupled receptor 3 family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.