Homo sapiens Protein: RHO
Summary
InnateDB Protein IDBP-56066.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RHO
Protein Name rhodopsin
Synonyms CSNBAD1; OPN2; RP4;
Species Homo sapiens
Ensembl Protein ENSP00000296271
InnateDB Gene IDBG-56064 (RHO)
Protein Structure
UniProt Annotation
Function Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal.
Subcellular Localization Membrane {ECO:0000269PubMed:19934218}; Multi-pass membrane protein {ECO:0000269PubMed:19934218}. Note=Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia.
Disease Associations 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:0000269PubMed:1302614, ECO:0000269PubMed:1391967, ECO:0000269PubMed:1833777, ECO:0000269PubMed:1840561, ECO:0000269PubMed:1862076, ECO:0000269PubMed:1897520, ECO:0000269PubMed:1985460, ECO:0000269PubMed:19960070, ECO:0000269PubMed:2137202, ECO:0000269PubMed:2215617, ECO:0000269PubMed:22334370, ECO:0000269PubMed:2239971, ECO:0000269PubMed:7633434, ECO:0000269PubMed:7981701, ECO:0000269PubMed:7987326, ECO:0000269PubMed:7987331, ECO:0000269PubMed:8045708, ECO:0000269PubMed:8076945, ECO:0000269PubMed:8081400, ECO:0000269PubMed:8088850, ECO:0000269PubMed:8317502, ECO:0000269PubMed:8353500, ECO:0000269PubMed:8554077, ECO:0000269PubMed:9452035}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:7846071, ECO:0000269PubMed:8358437, ECO:0000269PubMed:9888392}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Rod shaped photoreceptor cells which mediates vision in dim light.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004930 G-protein coupled receptor activity
GO:0005515 protein binding
GO:0009881 photoreceptor activity
GO:0016918 retinal binding
GO:0030507 spectrin binding
GO:0046872 metal ion binding
Biological Process
GO:0001523 retinoid metabolic process
GO:0006468 protein phosphorylation
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0007603 phototransduction, visible light
GO:0009416 response to light stimulus
GO:0009583 detection of light stimulus
GO:0009585 red, far-red light phototransduction
GO:0016056 rhodopsin mediated signaling pathway
GO:0018298 protein-chromophore linkage
GO:0022400 regulation of rhodopsin mediated signaling pathway
GO:0050953 sensory perception of light stimulus
GO:0060041 retina development in camera-type eye
GO:0071482 cellular response to light stimulus
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005911 cell-cell junction
GO:0016021 integral component of membrane
GO:0030867 rough endoplasmic reticulum membrane
GO:0042622 photoreceptor outer segment membrane
GO:0060342 photoreceptor inner segment membrane
GO:0097381 photoreceptor disc membrane
Protein Structure and Domains
PDB ID
InterPro IPR000276 G protein-coupled receptor, rhodopsin-like
IPR000732 Rhodopsin
IPR001760 Opsin
IPR017452 GPCR, rhodopsin-like, 7TM
IPR019424 7TM GPCR, olfactory receptor/chemoreceptor Srsx
IPR019426 7TM GPCR, serpentine receptor class v (Srv)
IPR019427 7TM GPCR, serpentine receptor class w (Srw)
IPR019430 7TM GPCR, serpentine receptor class x (Srx)
IPR019477 Rhodopsin, N-terminal
PFAM PF00001
PF10320
PF10323
PF10324
PF10328
PF10413
PRINTS PR00237
PR00579
PR00238
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P08100
PhosphoSite PhosphoSite-P08100
TrEMBL
UniProt Splice Variant
Entrez Gene 6010
UniGene Hs.622459
RefSeq NP_000530
HUGO HGNC:10012
OMIM 180380
CCDS CCDS3063
HPRD 01584
IMGT
EMBL AB065668 BC112104 BC112106 BX537381 S81166 U16824 U49742
GenPept AAA97436 AAB35906 AAC31763 AAI12105 AAI12107 BAC05894 CAD97623