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

Gene ID: 5950, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:9922
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
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Genomic context

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See RBP4 in Genome Data Viewer
Location:
10q23.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (93591694..93601744, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (94471646..94481695, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95351451..95361501, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:95315968-95316468 Neighboring gene uncharacterized LOC105378436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:95325824-95326662 Neighboring gene uncharacterized LOC124902485 Neighboring gene free fatty acid receptor 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:95341272-95341477 Neighboring gene phosphodiesterase 6C Neighboring gene FRA10A associated CGG repeat 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3786 Neighboring gene fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2)

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. Retinol binding protein 4 and insulin resistance in apparently healthy elderly subjects. Lee JW, et al. Clin Chim Acta, 2009 Feb. PMID 18977339
  2. Significance of RBP4 in patients with gestational diabetes mellitus: a case-control study of Han Chinese women. Zhaoxia L, et al. Gynecol Endocrinol, 2014 Feb. PMID 24397358
  3. Retinol-binding protein 4: a new marker of virus-induced steatosis in patients infected with hepatitis c virus genotype 1. Petta S, et al. Hepatology, 2008 Jul. PMID 18506842
  4. Serum retinol binding protein 4 is negatively related to beta cell function in Chinese women with non-alcoholic fatty liver disease: a cross-sectional study. Yan H, et al. Lipids Health Dis, 2013 Oct 27. PMID 24160775, Free PMC Article
  5. Plasma retinol-binding protein is not a marker of insulin resistance in overweight subjects: a three year longitudinal study. Lewis JG, et al. Clin Biochem, 2008 Sep. PMID 18588869

See all (396) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Retinol binding protein 4 and type 2 diabetes: from insulin resistance to pancreatic beta-cell function.
    Title: Retinol binding protein 4 and type 2 diabetes: from insulin resistance to pancreatic β-cell function.
  2. Retinol and retinol binding protein 4 levels and COVID-19: a Mendelian randomization study.
    Title: Retinol and retinol binding protein 4 levels and COVID-19: a Mendelian randomization study.
  3. The association between retinol-binding protein 4 and risk of type 2 diabetes: A systematic review and meta-analysis.
    Title: The association between retinol-binding protein 4 and risk of type 2 diabetes: A systematic review and meta-analysis.
  4. Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
    Title: Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
  5. Does Retinol-Binding Protein 4 (holo- and apo-RBP4) Increase or Remain Constant in Sera from Patients with Hypothyroidism?
    Title: Does Retinol-Binding Protein 4 (holo- and apo-RBP4) Increase or Remain Constant in Sera from Patients with Hypothyroidism?
  6. Are variants of the RBP4 gene associated with serum retinol-binding protein 4 concentrations and carotid intima-media thickness values in women with obesity?
    Title: Are variants of the RBP4 gene associated with serum retinol-binding protein 4 concentrations and carotid intima-media thickness values in women with obesity?
  7. ALB, HP, OAF and RBP4 as novel protein biomarkers for identifying cured patients with pulmonary tuberculosis by DIA.
    Title: ALB, HP, OAF and RBP4 as novel protein biomarkers for identifying cured patients with pulmonary tuberculosis by DIA.
  8. Targeting Retinol-Binding Protein 4 (RBP4) in the Management of Cardiometabolic Diseases.
    Title: Targeting Retinol-Binding Protein 4 (RBP4) in the Management of Cardiometabolic Diseases.
  9. Longitudinal Change of Plasma Retinol-Binding Protein 4 and its Relation to Neurological-Function Recovery, Relapse, and Death in Acute Ischemic Stroke Patients.
    Title: Longitudinal Change of Plasma Retinol-Binding Protein 4 and its Relation to Neurological-Function Recovery, Relapse, and Death in Acute Ischemic Stroke Patients.
  10. Visfatin and Retinol Binding Protein-4 in Young-Onset Type 2 Diabetes Mellitus.
    Title: Visfatin and Retinol Binding Protein-4 in Young-Onset Type 2 Diabetes Mellitus.
Submit: New GeneRIF Correction See all GeneRIFs (345)

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

Associated conditions

Description Tests
Microphthalmia, isolated, with coloboma 10
MedGen: C4225330 OMIM: 616428 GeneReviews: Not available
not available
Progressive retinal dystrophy due to retinol transport defect
MedGen: C3554593 OMIM: 615147 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study of circulating retinol levels.
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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables retinal binding IEA
Inferred from Electronic Annotation
more info
  
enables retinol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables retinol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables retinol transmembrane transporter activity IC
Inferred by Curator
more info
 PubMed 
Process Evidence Code Pubs
involved_in cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in embryonic organ morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in embryonic retina morphogenesis in camera-type eye ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in embryonic skeletal system development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in eye development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in eye development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in female genitalia morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in gluconeogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gluconeogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glucose homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in heart trabecula formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lung development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in maintenance of gastrointestinal epithelium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of cardiac muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of immunoglobulin production ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to retinoic acid IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retinol transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retinol transport IC
Inferred by Curator
more info
 PubMed 
involved_in urinary bladder development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in uterus development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in vagina development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
retinol-binding protein 4
Names
PRBP
RBP
plasma retinol-binding protein
retinol binding protein 4, plasma
retinol-binding protein 4, interstitial

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_009104.1 RefSeqGene

    Range
    5002..14543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001323517.1 → NP_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
    D3DR38, O43478, O43479, P02753, Q5VY24, Q8WWA3, Q9P178
    Related
    ENSP00000360522.1, ENST00000371467.5
    Conserved Domains (1) summary
    cd00743
    Location:22 → 192
    lipocalin_RBP_like; retinol-binding protein 4 and similar proteins

  2. NM_001323518.2 → NP_001310447.1  retinol-binding protein 4 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL356214, BC020633, BG565176, BI712834
    Consensus CDS
    CCDS81488.1
    UniProtKB/TrEMBL
    Q5VY30
    Related
    ENSP00000360524.2, ENST00000371469.2
    Conserved Domains (1) summary
    pfam00061
    Location:37 → 175
    Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

  3. NM_006744.4 → NP_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)
    AL356214, BC020633, BX495987, X00129
    Consensus CDS
    CCDS31249.1
    UniProtKB/Swiss-Prot
    D3DR38, O43478, O43479, P02753, Q5VY24, Q8WWA3, Q9P178
    Related
    ENSP00000360519.3, ENST00000371464.8
    Conserved Domains (1) summary
    cd00743
    Location:22 → 192
    lipocalin_RBP_like; retinol-binding protein 4 and similar proteins

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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    93591694..93601744 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    94471646..94481695 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02753.3 GenPept UniProtKB/Swiss-Prot:P02753

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