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

    Gene ID: 5947, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:9919
    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; hCRBP1; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RBP1 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139517438..139539742, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (142264863..142287171, complement)
    RS_2024_09 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 BRD4-independent group 4 enhancer GRCh37_chr3:139191689-139192888 Neighboring gene retinol binding protein 2 Neighboring gene actin gamma 1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 7279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:139252819-139253320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:139253967-139254614 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:139256460-139257659 Neighboring gene nicotinamide nucleotide adenylyltransferase 3 Neighboring gene RN7SK pseudogene 124 Neighboring gene DTWD1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables all-trans-retinol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables all-trans-retinol binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables fatty acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 fatty acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    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)

    NEW Try the new Transcript table

    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
      Consensus CDS
      CCDS93396.1
      UniProtKB/Swiss-Prot
      A8K2Q0, B7Z7A0, E7EWV0, F2Z2F2, P09455, Q6FGX8
      Related
      ENSP00000482165.1, ENST00000619087.5
      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/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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      142264863..142287171 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)