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

Summary

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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
Title: Clinical, genetic and biochemical signatures of RBP4-related ocular malformations.
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?
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?
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH93967 (e-PCR)
- UniSTS:87080

RH80160 (e-PCR)
- UniSTS:86828

MARC_24240-24241:1032810986:5 (e-PCR)
- UniSTS:268863

D10S2145 (e-PCR)
- UniSTS:66626

SHGC-170 (e-PCR)
- UniSTS:16275

SHGC-132033 (e-PCR)
- UniSTS:182191

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 more info	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

NG_009104.1 RefSeqGene

Range

5002..14543

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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