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

Summary

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

Location:: 3q23

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (139517438..139539742, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (142264863..142287171, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (139236280..139258584, complement)

Chromosome 3 - NC_000003.12 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
Up-regulated expression of CRBP-1 is associated with poor prognosis in tongue squamous cell carcinoma
Title: CRBP-1 over-expression is associated with poor prognosis in tongue squamous cell carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (44)

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 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

SHGC-57604 (e-PCR)
- UniSTS:23191

WI-16259 (e-PCR)
- UniSTS:21682

D3S3890 (e-PCR)
- UniSTS:12995

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

EC 2.7.7.1

NP_001124465.1

EC 2.7.7.1

NP_001352869.1

EC 2.7.7.1

NP_002890.2

EC 2.7.7.1

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_047073.1 RefSeqGene

Range

5088..27392

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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