UniProt functional annotation for P08100



	UniProt functional annotation for P08100

UniProt code: P08100.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light- induced isomerization of the chromophore 11-cis-retinal to all-trans- retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343). {ECO:0000269|PubMed:12566452, ECO:0000269|PubMed:2215617, ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28753425, ECO:0000269|PubMed:7846071, ECO:0000269|PubMed:8107847, ECO:0000305|PubMed:28524165}.

Subunit: Homodimer (By similarity). May form a complex composed of RHO, GRK1 and RCVRN in a Ca(2+)-dependent manner; RCVRN prevents the interaction between GRK1 and RHO (By similarity). Interacts with GRK1 (PubMed:28524165). Interacts (phosphorylated form) with SAG (PubMed:28524165, PubMed:26200343, PubMed:28753425). Interacts with GNAT1 (PubMed:26200343). Interacts with GNAT3. SAG and G-proteins compete for a common binding site (PubMed:26200343). Interacts with PRCD; the interaction promotes PRCD stability (By similarity). {ECO:0000250|UniProtKB:P02699, ECO:0000250|UniProtKB:P15409, ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28524165, ECO:0000269|PubMed:28753425}.

Subcellular location: Membrane {ECO:0000269|PubMed:12566452, ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:25664179, ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28753425}; Multi-pass membrane protein {ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:26200343, ECO:0000269|PubMed:28753425}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269|PubMed:25664179}. Note=Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to disk membranes in the rod outer segment (OS) photosensory cilia. {ECO:0000269|PubMed:25664179}.

Tissue specificity: Rod shaped photoreceptor cells which mediate vision in dim light.

Ptm: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region (By similarity). After activation by light, phosphorylated by GRK1 (in vitro) (PubMed:28524165). {ECO:0000250|UniProtKB:P02699, ECO:0000269|PubMed:28524165}.

Ptm: Contains one covalently linked retinal chromophore. Upon light absorption, the covalently bound 11-cis-retinal is converted to all- trans-retinal. After hydrolysis of the Schiff base and release of the covalently bound all-trans-retinal, active rhodopsin is regenerated by binding of a fresh molecule of 11-cis-retinal(PubMed:12566452). {ECO:0000269|PubMed:12566452}.

Disease: Retinitis pigmentosa 4 (RP4) [MIM:613731]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:12566452, ECO:0000269|PubMed:1302614, ECO:0000269|PubMed:1391967, ECO:0000269|PubMed:1833777, ECO:0000269|PubMed:1840561, ECO:0000269|PubMed:1862076, ECO:0000269|PubMed:1897520, ECO:0000269|PubMed:1985460, ECO:0000269|PubMed:19934218, ECO:0000269|PubMed:19960070, ECO:0000269|PubMed:2137202, ECO:0000269|PubMed:2215617, ECO:0000269|PubMed:22334370, ECO:0000269|PubMed:2239971, ECO:0000269|PubMed:7633434, ECO:0000269|PubMed:7981701, ECO:0000269|PubMed:7987326, ECO:0000269|PubMed:7987331, ECO:0000269|PubMed:8045708, ECO:0000269|PubMed:8076945, ECO:0000269|PubMed:8081400, ECO:0000269|PubMed:8088850, ECO:0000269|PubMed:8317502, ECO:0000269|PubMed:8353500, ECO:0000269|PubMed:8554077, ECO:0000269|PubMed:9452035}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269|PubMed:7846071, ECO:0000269|PubMed:8107847, ECO:0000269|PubMed:8358437, ECO:0000269|PubMed:9888392}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Photoreceptor required for image-forming vision at low light intensity (PubMed:8107847, PubMed:7846071). Required for photoreceptor cell viability after birth (PubMed:2215617, PubMed:12566452). Light- induced isomerization of the chromophore 11-cis-retinal to all-trans- retinal triggers a conformational change that activates signaling via G-proteins (PubMed:8107847, PubMed:28524165, PubMed:26200343, PubMed:28753425). Subsequent receptor phosphorylation mediates displacement of the bound G-protein alpha subunit by the arrestin SAG and terminates signaling (PubMed:28524165, PubMed:26200343). {ECO:0000269\|PubMed:12566452, ECO:0000269\|PubMed:2215617, ECO:0000269\|PubMed:26200343, ECO:0000269\|PubMed:28753425, ECO:0000269\|PubMed:7846071, ECO:0000269\|PubMed:8107847, ECO:0000305\|PubMed:28524165}.


Subunit:		Homodimer (By similarity). May form a complex composed of RHO, GRK1 and RCVRN in a Ca(2+)-dependent manner; RCVRN prevents the interaction between GRK1 and RHO (By similarity). Interacts with GRK1 (PubMed:28524165). Interacts (phosphorylated form) with SAG (PubMed:28524165, PubMed:26200343, PubMed:28753425). Interacts with GNAT1 (PubMed:26200343). Interacts with GNAT3. SAG and G-proteins compete for a common binding site (PubMed:26200343). Interacts with PRCD; the interaction promotes PRCD stability (By similarity). {ECO:0000250\|UniProtKB:P02699, ECO:0000250\|UniProtKB:P15409, ECO:0000269\|PubMed:26200343, ECO:0000269\|PubMed:28524165, ECO:0000269\|PubMed:28753425}.
Subcellular location:		Membrane {ECO:0000269\|PubMed:12566452, ECO:0000269\|PubMed:19934218, ECO:0000269\|PubMed:25664179, ECO:0000269\|PubMed:26200343, ECO:0000269\|PubMed:28753425}; Multi-pass membrane protein {ECO:0000269\|PubMed:19934218, ECO:0000269\|PubMed:26200343, ECO:0000269\|PubMed:28753425}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269\|PubMed:25664179}. Note=Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to disk membranes in the rod outer segment (OS) photosensory cilia. {ECO:0000269\|PubMed:25664179}.
Tissue specificity:		Rod shaped photoreceptor cells which mediate vision in dim light.
Ptm:		Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region (By similarity). After activation by light, phosphorylated by GRK1 (in vitro) (PubMed:28524165). {ECO:0000250\|UniProtKB:P02699, ECO:0000269\|PubMed:28524165}.
Ptm:		Contains one covalently linked retinal chromophore. Upon light absorption, the covalently bound 11-cis-retinal is converted to all- trans-retinal. After hydrolysis of the Schiff base and release of the covalently bound all-trans-retinal, active rhodopsin is regenerated by binding of a fresh molecule of 11-cis-retinal(PubMed:12566452). {ECO:0000269\|PubMed:12566452}.
Disease:		Retinitis pigmentosa 4 (RP4) [MIM:613731]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269\|PubMed:12566452, ECO:0000269\|PubMed:1302614, ECO:0000269\|PubMed:1391967, ECO:0000269\|PubMed:1833777, ECO:0000269\|PubMed:1840561, ECO:0000269\|PubMed:1862076, ECO:0000269\|PubMed:1897520, ECO:0000269\|PubMed:1985460, ECO:0000269\|PubMed:19934218, ECO:0000269\|PubMed:19960070, ECO:0000269\|PubMed:2137202, ECO:0000269\|PubMed:2215617, ECO:0000269\|PubMed:22334370, ECO:0000269\|PubMed:2239971, ECO:0000269\|PubMed:7633434, ECO:0000269\|PubMed:7981701, ECO:0000269\|PubMed:7987326, ECO:0000269\|PubMed:7987331, ECO:0000269\|PubMed:8045708, ECO:0000269\|PubMed:8076945, ECO:0000269\|PubMed:8081400, ECO:0000269\|PubMed:8088850, ECO:0000269\|PubMed:8317502, ECO:0000269\|PubMed:8353500, ECO:0000269\|PubMed:8554077, ECO:0000269\|PubMed:9452035}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Night blindness, congenital stationary, autosomal dominant 1 (CSNBAD1) [MIM:610445]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. {ECO:0000269\|PubMed:7846071, ECO:0000269\|PubMed:8107847, ECO:0000269\|PubMed:8358437, ECO:0000269\|PubMed:9888392}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. {ECO:0000255\|PROSITE-ProRule:PRU00521}.