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

Gene ID: 5947, updated on 27-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
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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
  • 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)

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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