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UniProt functional annotation for Q15835 | ||
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| UniProt code: Q15835. |
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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: | |
Retina-specific kinase involved in the signal turnoff via phosphorylation of rhodopsin (RHO), the G protein- coupled receptor that initiates the phototransduction cascade (PubMed:15946941). This rapid desensitization is essential for scotopic vision and permits rapid adaptation to changes in illumination (By similarity). May play a role in the maintenance of the outer nuclear layer in the retina (By similarity). {ECO:0000250|UniProtKB:Q9WVL4, ECO:0000269|PubMed:15946941}. |
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| Catalytic activity: | |
Reaction=ATP + L-threonyl-[rhodopsin] = ADP + H(+) + O-phospho-L- threonyl-[rhodopsin]; Xref=Rhea:RHEA:56552, Rhea:RHEA-COMP:14596, Rhea:RHEA-COMP:14597, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.14; Evidence={ECO:0000269|PubMed:15946941}; |
| Catalytic activity: | |
Reaction=ATP + L-seryl-[rhodopsin] = ADP + H(+) + O-phospho-L-seryl- [rhodopsin]; Xref=Rhea:RHEA:23356, Rhea:RHEA-COMP:14594, Rhea:RHEA- COMP:14595, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.14; Evidence={ECO:0000269|PubMed:15946941}; |
| Activity regulation: | |
Inhibited by RCVRN, which prevents the interaction between GRK1 and RHO (By similarity). Inhibition is calcium-dependent (By similarity). Inhibited by phosphorylation of Ser-21. {ECO:0000250|UniProtKB:P28327, ECO:0000269|PubMed:15946941}. |
| Biophysicochemical properties: | |
Kinetic parameters: KM=3.5 uM for rhodopsin {ECO:0000269|PubMed:15946941}; KM=10.6 uM for ATP {ECO:0000269|PubMed:15946941}; Vmax=1132 nmol/min/mg enzyme {ECO:0000269|PubMed:15946941}; |
| Subunit: | |
Interacts (via N-terminus) with RCVRN (via C-terminus); the interaction is Ca(2+)-dependent (By similarity). Interacts (when prenylated) with PDE6D; this promotes release from membranes (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). {ECO:0000250|UniProtKB:P28327}. |
| Subcellular location: | |
Membrane {ECO:0000250|UniProtKB:P28327}; Lipid- anchor {ECO:0000250|UniProtKB:P28327}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:Q9WVL4}. Note=Subcellular location is not affected by light or dark conditions. {ECO:0000250|UniProtKB:Q9WVL4}. |
| Tissue specificity: | |
Retinal-specific. Expressed in rods and cones cells. {ECO:0000269|PubMed:11717351}. |
| Ptm: | |
Autophosphorylated, Ser-21 is a minor site of autophosphorylation compared to Ser-491 and Thr-492 (By similarity). Phosphorylation at Ser-21 is regulated by light and activated by cAMP. {ECO:0000250, ECO:0000269|PubMed:15946941}. |
| Ptm: | |
Farnesylation is required for full activity. {ECO:0000250|UniProtKB:P28327}. |
| Disease: | |
Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411]: A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is associated with fundus discoloration and abnormally slow dark adaptation. {ECO:0000269|PubMed:17070587, ECO:0000269|PubMed:9020843}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.