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RBP4 retinol binding protein 4 [ Homo sapiens (human) ]

Gene ID: 5950, updated on 10-Jun-2018
Official Symbol
RBP4provided by HGNC
Official Full Name
retinol binding protein 4provided by HGNC
Primary source
HGNC:HGNC:9922
See related
Ensembl:ENSG00000138207 MIM:180250; Vega:OTTHUMG00000018773
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
RDCCAS; MCOPCB10
Summary
This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. It delivers retinol from the liver stores to the peripheral tissues. In plasma, the RBP-retinol complex interacts with transthyretin which prevents its loss by filtration through the kidney glomeruli. A deficiency of vitamin A blocks secretion of the binding protein posttranslationally and results in defective delivery and supply to the epidermal cells. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 2545.8) and fat (RPKM 387.7) See more
Orthologs
See RBP4 in Genome Data Viewer
Location:
10q23.33
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (93591836..93601744, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95351593..95361101, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378436 Neighboring gene free fatty acid receptor 4 Neighboring gene phosphodiesterase 6C Neighboring gene FRA10A associated CGG repeat 1 Neighboring gene FRA10A repeat instability region

  • 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?

  • 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...
  • 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...
  • Retinoid metabolism disease events, organism-specific biosystem (from REACTOME)
    Retinoid metabolism disease events, organism-specific biosystemRetinol binding protein (RBP4) delivers all-trans-retinol (atROL) from liver stores to peripheral tissues. Defects in RBP4 cause retinol-binding protein deficiency (RBP deficiency, MIM:180250), causi...
  • 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...
  • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
    Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
  • 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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
retinal binding IEA
Inferred from Electronic Annotation
more info
 
retinol binding IDA
Inferred from Direct Assay
more info
PubMed 
retinol transmembrane transporter activity IC
Inferred by Curator
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic retina morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
eye development ISS
Inferred from Sequence or Structural Similarity
more info
 
female genitalia morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
gluconeogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
gluconeogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart trabecula formation ISS
Inferred from Sequence or Structural Similarity
more info
 
lung development ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of gastrointestinal epithelium IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of immunoglobulin secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to retinoic acid IDA
Inferred from Direct Assay
more info
PubMed 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
retinol metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinol transport IC
Inferred by Curator
more info
PubMed 
urinary bladder development ISS
Inferred from Sequence or Structural Similarity
more info
 
uterus development ISS
Inferred from Sequence or Structural Similarity
more info
 
vagina development ISS
Inferred from Sequence or Structural Similarity
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
retinol-binding protein 4
Names
PRBP
RBP
plasma retinol-binding protein
retinol binding protein 4, plasma
retinol-binding protein 4, 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_009104.1 RefSeqGene

    Range
    5001..14401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001323517.1NP_001310446.1  retinol-binding protein 4 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) and variant 1 both encode isoform a.
    Source sequence(s)
    AL356214
    Consensus CDS
    CCDS31249.1
    UniProtKB/Swiss-Prot
    P02753
    Related
    ENSP00000360522.1, OTTHUMP00000020116, ENST00000371467.5, OTTHUMT00000049431
    Conserved Domains (1) summary
    pfam00061
    Location:39177
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
  2. NM_001323518.1NP_001310447.1  retinol-binding protein 4 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL356214, BC020633, BG565176, BI712834
    Consensus CDS
    CCDS81488.1
    UniProtKB/Swiss-Prot
    P02753
    UniProtKB/TrEMBL
    Q5VY30
    Related
    ENSP00000360524.2, OTTHUMP00000020115, ENST00000371469.2, OTTHUMT00000049430
    Conserved Domains (1) summary
    pfam00061
    Location:37175
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
  3. NM_006744.3NP_006735.2  retinol-binding protein 4 isoform a precursor

    See identical proteins and their annotated locations for NP_006735.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 both encode isoform a.
    Source sequence(s)
    BC020633, BX495987, X00129
    Consensus CDS
    CCDS31249.1
    UniProtKB/Swiss-Prot
    P02753
    Related
    ENSP00000360519.3, OTTHUMP00000020114, ENST00000371464.7, OTTHUMT00000049429
    Conserved Domains (1) summary
    pfam00061
    Location:39177
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    93591836..93601744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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