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

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A high level of urinary retinol-binding protein is associated with cytomegalovirus infection in kidney transplantation. Requião-Moura LR, et al. Clin Sci (Lond), 2018 Sep 28. PMID 30171051
    2. Predictive value of urinary retinol binding protein for graft dysfunction after kidney transplantation. Hosaka B, et al. Transplant Proc, 2003 Jun. PMID 12826154
    3. CRBP-1 expression in ovarian cancer: a potential therapeutic target. Doldo E, et al. Anticancer Res, 2014 Jul. PMID 24982334
    4. Cellular retinol-binding protein-1 in hepatocellular carcinoma correlates with beta-catenin, Ki-67 index, and patient survival. Schmitt-Gräff A, et al. Hepatology, 2003 Aug. PMID 12883492
    5. High levels of cellular retinol binding protein-1 expression in leiomyosarcoma: possible implications for diagnostic evaluation. Orlandi A, et al. Virchows Arch, 2002 Jul. PMID 12111198

    See all (87) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Retinol-binding protein type 1 expression predicts poor prognosis in head and neck squamous cell carcinoma.
      Title: Retinol-binding protein type 1 expression predicts poor prognosis in head and neck squamous cell carcinoma.
    2. Role of cellular retinol-binding protein, type 1 and retinoid homeostasis in the adult mouse heart: A multi-omic approach.
      Title: Role of cellular retinol-binding protein, type 1 and retinoid homeostasis in the adult mouse heart: A multi-omic approach.
    3. Altered RBP1 Gene Expression Impacts Epithelial Cell Retinoic Acid, Proliferation, and Microenvironment.
      Title: Altered RBP1 Gene Expression Impacts Epithelial Cell Retinoic Acid, Proliferation, and Microenvironment.
    4. MicroRNA-20a-5p inhibits the autophagy and cisplatin resistance in ovarian cancer via regulating DNMT3B-mediated DNA methylation of RBP1.
      Title: MicroRNA-20a-5p inhibits the autophagy and cisplatin resistance in ovarian cancer via regulating DNMT3B-mediated DNA methylation of RBP1.
    5. Cellular retinol binding protein-1 inhibits cancer stemness via upregulating WIF1 to suppress Wnt/beta-catenin pathway in hepatocellular carcinoma.
      Title: Cellular retinol binding protein-1 inhibits cancer stemness via upregulating WIF1 to suppress Wnt/β-catenin pathway in hepatocellular carcinoma.
    6. Retinol binding protein 1-dependent activation of NF- kappaB signaling enhances the malignancy of non-glioblastomatous diffuse gliomas.
      Title: Retinol binding protein 1-dependent activation of NF- κB signaling enhances the malignancy of non-glioblastomatous diffuse gliomas.
    7. Cellular retinol binding protein 1 transfection reduces proliferation and AKT-related gene expression in H460 non-small lung cancer cells.
      Title: Cellular retinol binding protein 1 transfection reduces proliferation and AKT-related gene expression in H460 non-small lung cancer cells.
    8. The RBP1-CKAP4 axis activates oncogenic autophagy and promotes cancer progression in oral squamous cell carcinoma.
      Title: The RBP1-CKAP4 axis activates oncogenic autophagy and promotes cancer progression in oral squamous cell carcinoma.
    9. CRBP1 expression was significantly increased in lesional alopecia areata skin in comparison with normal skin of controls. Significant positive correlation was found between expression of CRBP-1 and percentage of hair loss in the scalp.
      Title: Cellular retinol-binding protein-1 expression increases with increasing clinical severity of alopecia areata.
    10. The levels of urinary retinol-binding protein (uRBP) were significantly higher in patients infected with cytomegalovirus (CMV) at the time of diagnosis.
      Title: A high level of urinary retinol-binding protein is associated with cytomegalovirus infection in kidney transplantation.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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_001130992.3 → NP_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:68 → 146
      Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

    2. NM_001130993.3 → NP_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:68 → 149
      Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

    3. NM_001365940.2 → NP_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:4 → 134
      CRBP1; cellular retinol-binding protein 1

    4. NM_002899.5 → NP_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:68 → 196
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09455.2 GenPept UniProtKB/Swiss-Prot:P09455

    Gene LinkOut

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