Homo sapiens Gene: RHO
Summary
InnateDB Gene IDBG-56064.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RHO
Gene Name rhodopsin
Synonyms CSNBAD1; OPN2; RP4;
Species Homo sapiens
Ensembl Gene ENSG00000163914
Encoded Proteins
rhodopsin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25%% of total cases, approximately 30%% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:129528640-129535169
Strand Forward strand
Band q22.1
Transcripts
ENST00000296271 ENSP00000296271
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Class A/1 (Rhodopsin-like receptors) pathway
Activation of the phototransduction cascade pathway
Signaling by GPCR pathway
The canonical retinoid cycle in rods (twilight vision) pathway
Signal Transduction pathway
GPCR downstream signaling pathway
G alpha (i) signalling events pathway
Diseases associated with visual transduction pathway
Opsins pathway
Visual phototransduction pathway
GPCR ligand binding pathway
The phototransduction cascade pathway
Inactivation, recovery and regulation of the phototransduction cascade pathway
Disease pathway
KEGG
Phototransduction pathway
INOH
PID BIOCARTA
Visual signal transduction [Biocarta view]
PID NCI
Visual signal transduction: Rods
Cross-References
SwissProt P08100
TrEMBL
UniProt Splice Variant
Entrez Gene 6010
UniGene Hs.247565 Hs.622459
RefSeq NM_000539
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
RNA Seq Atlas 6010