Format

Send to:

Choose Destination

RBP1 retinol binding protein 1 [ Homo sapiens (human) ]

Gene ID: 5947, updated on 26-May-2016
Official Symbol
RBP1provided by HGNC
Official Full Name
retinol binding protein 1provided by HGNC
Primary source
HGNC:HGNC:9919
See related
Ensembl:ENSG00000114115 HPRD:07036; MIM:180260; Vega:OTTHUMG00000155751
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
CRBP; RBPC; CRBP1; CRBPI; CRABP-I
Summary
This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Orthologs
Location:
3q23
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (139517434..139539829, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139236276..139258671, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507291 Neighboring gene retinol binding protein 2 Neighboring gene actin gamma 1 pseudogene 1 Neighboring gene uncharacterized LOC102724040 Neighboring gene nicotinamide nucleotide adenylyltransferase 3 Neighboring gene uncharacterized LOC105374130

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
    Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
  • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
    Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of fat-soluble vitamins, organism-specific biosystem (from REACTOME)
    Metabolism of fat-soluble vitamins, organism-specific biosystemVitamins A, D, E, and K are classified as fat-soluble. Metabolic pathways by which dietary precursors of vitamins A (Harrison 2005) and K(Shearer et al. 2012) are converted to active forms, and by wh...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • RB in Cancer, organism-specific biosystem (from WikiPathways)
    RB in Cancer, organism-specific biosystem
    RB in Cancer
  • Retinoic acid receptors-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
    Retinoic acid receptors-mediated signaling, organism-specific biosystem
    Retinoic acid receptors-mediated signaling
  • Retinoid cycle disease events, organism-specific biosystem (from REACTOME)
    Retinoid cycle disease events, organism-specific biosystemThe gene defects which cause diseases related to the retinoid cycle are described here (Travis et al. 2007, Palczewski 2010, Fletcher et al. 2011, den Hollander et al. 2008).
  • Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
    Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
  • 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 ...
  • 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...
  • Vitamin A and carotenoid metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin A and carotenoid metabolism, organism-specific biosystemThis pathway is about carotenoid and vitamin A metabolism. The initial version was created by the NuGO focusteam on Carotenoid metabolism. It was used to test a text mining workflow which added some ...
  • retinoate biosynthesis I, conserved biosystem (from BIOCYC)
    retinoate biosynthesis I, conserved biosystemGeneral Background |FRAME: RETINOATE "All-trans retinoic acid"|, one of the forms of vitamin A, is a metabolite of |FRAME: CPD-13524| that mediates the functions of vitamin A required for growth and...
  • retinoate biosynthesis I, organism-specific biosystem (from BIOCYC)
    retinoate biosynthesis I, organism-specific biosystem
    retinoate biosynthesis I
  • retinoate biosynthesis II, organism-specific biosystem (from BIOCYC)
    retinoate biosynthesis II, organism-specific biosystem
    retinoate biosynthesis II
  • retinoate biosynthesis II, conserved biosystem (from BIOCYC)
    retinoate biosynthesis II, conserved biosystemGeneral Background |FRAME: RETINOATE "All-trans retinoic acid"|, one of the forms of vitamin A, is a metabolite of |FRAME: CPD-13524| that mediates the functions of vitamin A required for growth and...
  • retinol biosynthesis, conserved biosystem (from BIOCYC)
    retinol biosynthesis, conserved biosystemGeneral Background Vitamin A is the name given to a family of related compounds from the |FRAME: Retinoids retinoid| group, including all-trans forms such as |FRAME: CPD-13524|, |FRAME: RETINAL| and...
  • retinol biosynthesis, organism-specific biosystem (from BIOCYC)
    retinol biosynthesis, organism-specific biosystem
    retinol biosynthesis
  • 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
PubMed 
retinol binding IEA
Inferred from Electronic Annotation
more info
 
transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
retinoic acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
transport IEA
Inferred from Electronic Annotation
more info
 
vitamin A metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
retinol-binding protein 1
Names
CRBP-I
cellular retinol binding protein 1
cellular retinol-binding protein I
retinol-binding protein 1, cellular

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_047073.1 RefSeqGene

    Range
    5001..27396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130992.1NP_001124464.1  retinol-binding protein 1 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK309492, BX092411
    Consensus CDS
    CCDS46926.1
    UniProtKB/Swiss-Prot
    P09455
    Related
    ENSP00000429166, OTTHUMP00000225120, ENST00000492918, OTTHUMT00000341496
    Conserved Domains (1) summary
    pfam00061
    Location:68146
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
  2. NM_001130993.1NP_001124465.1  retinol-binding protein 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an alternate exon, compared to variant 1, that causes a frameshift. The resulting protein (isoform c) has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AK309492, DC356836, DC394326
    Consensus CDS
    CCDS46925.1
    UniProtKB/Swiss-Prot
    P09455
    Related
    ENSP00000477621, ENST00000617459
    Conserved Domains (1) summary
    pfam00061
    Location:68149
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
  3. NM_002899.3NP_002890.2  retinol-binding protein 1 isoform a

    See identical proteins and their annotated locations for NP_002890.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC046134, BC121052, BU734286, DC356836
    Consensus CDS
    CCDS3110.2
    UniProtKB/Swiss-Prot
    P09455
    UniProtKB/TrEMBL
    A0A0A0MQT0
    Related
    ENSP00000232219, OTTHUMP00000208586, ENST00000232219, OTTHUMT00000341495
    Conserved Domains (1) summary
    pfam00061
    Location:68196
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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
    139517434..139539829 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    139199741..139222138 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)