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    RHO rhodopsin [ Homo sapiens (human) ]

    Gene ID: 6010, updated on 22-Sep-2016
    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
    Location:
    3q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 4, DNA glycosylase Neighboring gene intraflagellar transport 122 Neighboring gene H1 histone family member O, oocyte specific Neighboring gene plexin D1 Neighboring gene RNA, 7SL, cytoplasmic 752, pseudogene

    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 photoreceptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    G-protein coupled receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    absorption of visible light ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    phototransduction, visible light TAS
    Traceable Author Statement
    more info
    PubMed 
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    protein-chromophore linkage 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
     
    Preferred Names
    rhodopsin
    Names
    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 identical proteins and their annotated locations for 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
      pfam00001
      Location:55306
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam10413
      Location:237
      Rhodopsin_N; Amino terminal of the G-protein receptor rhodopsin
      cl21561
      Location:45323
      7tm_4; Olfactory receptor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 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)
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