InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-56066

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