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

Gene ID: 5949, updated on 13-Mar-2020

Summary

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
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See RBP3 in Genome Data Viewer
Location:
10q11.22
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (47348363..47357881)
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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cone matrix sheath IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicle HDA PubMed 

General protein information

Preferred Names
retinol-binding protein 3
Names
interphotoreceptor retinoid-binding protein
interstitial retinol binding protein 3
retinol binding protein 3, interstitial

NCBI Reference Sequences (RefSeq)

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
    4993..14511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_002891.1

    Status: REVIEWED

    Source sequence(s)
    AL731561, BC039844, M22453
    Consensus CDS
    CCDS73119.1
    UniProtKB/Swiss-Prot
    P10745
    Related
    ENSP00000463151.1, ENST00000584701.2
    Conserved Domains (1) summary
    cd07563
    Location:9401226
    Peptidase_S41_IRBP; Interphotoreceptor retinoid-binding protein; serine protease family S41

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    47348363..47357881
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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