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    RBP3 retinol binding protein 3 [ Homo sapiens (human) ]

    Gene ID: 5949, updated on 22-Apr-2017
    Official Symbol
    RBP3provided by HGNC
    Official Full Name
    retinol binding protein 3provided by HGNC
    Primary source
    HGNC:HGNC:9921
    See related
    Ensembl:ENSG00000265203 MIM:180290; Vega:OTTHUMG00000188321
    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
    IRBP; RBPI; RP66; D10S64; D10S65; D10S66
    Summary
    Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells. It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long, respectively. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    10q11.22
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (47348371..47357875)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (48381487..48390991, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene growth differentiation factor 10 Neighboring gene growth differentiation factor 2 Neighboring gene zinc finger protein 488 Neighboring gene uncharacterized LOC107001062 Neighboring gene uncharacterized LOC105378292

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Retinitis pigmentosa Compare labs
    Retinitis pigmentosa 66
    MedGen: C3715216 OMIM: 615233 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    CMPK1 and RBP3 are associated with corneal curvature in Asian populations.
    NHGRI GWA Catalog
    • 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...
    • 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 retinoid cycle in cones (daylight vision), organism-specific biosystem (from REACTOME)
      The retinoid cycle in cones (daylight vision), organism-specific biosystemRods and cones share the same mechanism for the phototransduction process but perform functionally different roles. Although cone photoreceptors make up around 5% of all photoreceptor cells and are o...
    • 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...
    • the visual cycle I (vertebrates), conserved biosystem (from BIOCYC)
      the visual cycle I (vertebrates), conserved biosystemGeneral background The source of the chromophore in the visual system is |FRAME: CPD-13524|, derived from the blood circulation (see |FRAME: PWY-6857| for its synthesis). The compound is taken up fr...
    • the visual cycle I (vertebrates), organism-specific biosystem (from BIOCYC)
      the visual cycle I (vertebrates), organism-specific biosystem
      the visual cycle I (vertebrates)
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    retinal binding IEA
    Inferred from Electronic Annotation
    more info
     
    retinoid binding TAS
    Traceable Author Statement
    more info
     
    retinol binding IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    interphotoreceptor matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    retinol-binding protein 3
    Names
    interphotoreceptor retinoid-binding protein
    interstitial retinol binding protein 3
    retinol binding protein 3, interstitial

    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_029718.1 RefSeqGene

      Range
      5001..14505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002900.2NP_002891.1  retinol-binding protein 3 precursor

      See identical proteins and their annotated locations for NP_002891.1

      Status: REVIEWED

      Source sequence(s)
      BC039844, M22453
      Consensus CDS
      CCDS73119.1
      UniProtKB/Swiss-Prot
      P10745
      Related
      ENSP00000463151.1, OTTHUMP00000276281, ENST00000584701.1, OTTHUMT00000476890
      Conserved Domains (1) summary
      cd07563
      Location:9401226
      Peptidase_S41_IRBP; Interphotoreceptor retinoid-binding protein; serine protease family S41

    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_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      47348371..47357875
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      48546535..48556039 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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