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RHO rhodopsin [ Homo sapiens (human) ]

Gene ID: 6010, updated on 10-Apr-2015
Official Symbol
RHOprovided by HGNC
Official Full Name
rhodopsinprovided by HGNC
Primary source
HGNC:HGNC:10012
See related
Ensembl:ENSG00000163914; HPRD:01584; MIM:180380; Vega:OTTHUMG00000159542
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RP4; OPN2; CSNBAD1
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]
Orthologs
See RHO in MapViewer
Location:
3q21-q24
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (129528639..129535344)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (129247482..129254187)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene EF-hand calcium binding domain 12 Neighboring gene methyl-CpG binding domain protein 4 Neighboring gene intraflagellar transport 122 Neighboring gene H1 histone family, member O, oocyte-specific Neighboring gene plexin D1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
  • Assembly of the primary cilium, organism-specific biosystem (from REACTOME)
    Assembly of the primary cilium, organism-specific biosystemThe primary cilium is one of two main types of cilia present on the surface of many eukaryotic cells (reviewed in Flieghauf et al, 2007). Unlike the motile cilia, which are generally present in large...
  • Cargo trafficking to the periciliary membrane, organism-specific biosystem (from REACTOME)
    Cargo trafficking to the periciliary membrane, organism-specific biosystemThe primary cilium is a sensory organelle that is required for the transduction of numerous external signals such as growth factors, hormones and morphogens, and an intact primary cilium is needed fo...
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • GPCRs, Class A Rhodopsin-like, organism-specific biosystem (from WikiPathways)
    GPCRs, Class A Rhodopsin-like, organism-specific biosystemThis pathway was created using the GPCRDB (Horn et al., 1998), http://www.cmbi.kun.nl/7tm/. The groupings are based on the GPCR phylogenetic tree available from the GPCRDB and the training sets used ...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Opsins, organism-specific biosystem (from REACTOME)
    Opsins, organism-specific biosystemOpsins are light-sensitive, 35-55 kDa membrane-bound G protein-coupled receptors of the retinylidene protein family found in photoreceptor cells of the retina. Five classical groups of opsins are inv...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Regulation of Microtubule Cytoskeleton, organism-specific biosystem (from WikiPathways)
    Regulation of Microtubule Cytoskeleton, organism-specific biosystem
    Regulation of Microtubule Cytoskeleton
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
    The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods
  • VxPx cargo-targeting to cilium, organism-specific biosystem (from REACTOME)
    VxPx cargo-targeting to cilium, organism-specific biosystemA number of membrane proteins destined for the ciliary membrane are recognized by ARF4 in the trans-Golgi network, initiating the formation of a ciliary targeting complex that directs the passage of ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC138309, MGC138311

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein coupled receptor activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
photoreceptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinal binding IEA
Inferred from Electronic Annotation
more info
 
spectrin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
organelle organization TAS
Traceable Author Statement
more info
 
phototransduction, visible light TAS
Traceable Author Statement
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein-chromophore linkage IEA
Inferred from Electronic Annotation
more info
 
red, far-red light phototransduction IEA
Inferred from Electronic Annotation
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
ciliary membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor inner segment membrane IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor outer segment membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
rough endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
rhodopsin
Names
rhodopsin
opsin 2, rod pigment
opsin-2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009115.1 RefSeqGene

    Range
    5001..11706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000539.3NP_000530.1  rhodopsin

    See proteins identical to NP_000530.1

    Status: REVIEWED

    Source sequence(s)
    AC080007
    Consensus CDS
    CCDS3063.1
    UniProtKB/Swiss-Prot
    P08100
    Related
    ENSP00000296271, OTTHUMP00000215767, ENST00000296271, OTTHUMT00000356101
    Conserved Domains (3) summary
    pfam10413
    Location:237
    Rhodopsin_N; Amino terminal of the G-protein receptor rhodopsin
    pfam00001
    Location:60306
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    pfam10323
    Location:45323
    7TM_GPCR_Srv; Serpentine type 7TM GPCR chemoreceptor Srv

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    129528639..129535344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    129210611..129217316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)