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

Gene ID: 5947, updated on 14-Aug-2021

Summary

Official Symbol
RBP1provided by HGNC
Official Full Name
retinol binding protein 1provided by HGNC
Primary source
HGNC:HGNC:9919
See related
Ensembl:ENSG00000114115 MIM:180260
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]
Expression
Biased expression in ovary (RPKM 127.5), adrenal (RPKM 41.0) and 6 other tissues See more
Orthologs
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Genomic context

See RBP1 in Genome Data Viewer
Location:
3q23
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (139517438..139539742, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139236280..139258584, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene COPB2 divergent transcript Neighboring gene retinol binding protein 2 Neighboring gene actin gamma 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7279 Neighboring gene nicotinamide nucleotide adenylyltransferase 3 Neighboring gene RN7SK pseudogene 124 Neighboring gene RNA, 7SL, cytoplasmic 724, pseudogene

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
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available

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
enables all-trans-retinol binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables retinal binding IEA
Inferred from Electronic Annotation
more info
 
enables retinoid binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in lipid homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in retinoic acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in vitamin A metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
retinol-binding protein 1
Names
cellular retinol binding protein 1
cellular retinol-binding protein I
retinol-binding protein 1, cellular
NP_001124464.1
NP_001124465.1
NP_001352869.1
NP_002890.2

NCBI Reference Sequences (RefSeq)

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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
    5088..27392
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130992.3NP_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)
    AA887145, AC046134, AI130945, AI359782, AK309492, BX092411, W72800
    Consensus CDS
    CCDS46926.1
    UniProtKB/Swiss-Prot
    P09455
    Related
    ENSP00000429166.1, ENST00000492918.1
    Conserved Domains (1) summary
    pfam00061
    Location:68146
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
  2. NM_001130993.3NP_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)
    AC046134, AK309492, AW451931, CN479224, DB324655, DC394326
    Consensus CDS
    CCDS46925.1
    UniProtKB/Swiss-Prot
    P09455
    Related
    ENSP00000477621.1, ENST00000617459.4
    Conserved Domains (1) summary
    pfam00061
    Location:68149
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
  3. NM_001365940.2NP_001352869.1  retinol-binding protein 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC046134, BC121052, DC356836
    Related
    ENSP00000482165.1, ENST00000619087.4
    Conserved Domains (1) summary
    cd19462
    Location:4134
    CRBP1; cellular retinol-binding protein 1
  4. NM_002899.5NP_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, DC356836
    Consensus CDS
    CCDS3110.2
    UniProtKB/Swiss-Prot
    P09455
    UniProtKB/TrEMBL
    A0A0A0MQT0
    Related
    ENSP00000500931.1, ENST00000672186.1
    Conserved Domains (1) summary
    pfam00061
    Location:68196
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    139517438..139539742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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