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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
    mouse all
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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
    • 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
    		Compare labs
    Progressive retinal dystrophy due to retinol transport defect
    MedGen: C3554593 OMIM: 615147 GeneReviews: Not available
    		Compare labs

    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)

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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