RBP1 retinol binding protein 1, cellular [Homo sapiens] - Gene

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Summary

Official Symbol: RBP1provided by HGNC
Official Full Name: retinol binding protein 1, cellularprovided by HGNC
Primary source: HGNC:9919
See related: Ensembl:ENSG00000114115; HPRD:07036; MIM:180260; Vega:OTTHUMG00000155751
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; 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]

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Genomic context

Location :: 3q23

Sequence :: Chromosome: 3; NC_000003.11 (139236276..139258671, complement)

See RBP1 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Increased expression and unmethylated promoter of the CRBP1 gene could be considered as markers for larynx cancer.
Title: Correlation between expression of cellular retinol-binding protein 1 and its methylation status in larynx cancer.
Data show that CRBPI and CRBPII bind 9-cis-retinol and 9-cis-retinal with high affinities, albeit with affinities somewhat lower than for all-trans-retinol and all-trans-retinal.
Title: Binding affinities of CRBPI and CRBPII for 9-cis-retinoids.
STRA6 not only is a vitamin A transporter but also is a cell-surface signaling receptor activated by the RBP-retinol complex.
Title: Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses.
CDK-mediated phosphorylation of both RBP1 and pRb induces their dissociation to mediate release of the mSin3.HDAC transcriptional repressor complex from pRb to alleviate transcriptional repression of E2F.
Title: Cyclin-dependent kinase-mediated phosphorylation of RBP1 and pRb promotes their dissociation to mediate release of the SAP30·mSin3·HDAC transcriptional repressor complex.
CRBP1 gene could have a tumor suppressive function in bladder cancer.
Title: CpG hypermethylation of cellular retinol-binding protein 1 contributes to cell proliferation and migration in bladder cancer.
It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies.
Title: Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
Observational study of gene-disease association. (HuGE Navigator)
Title: Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
protein-ligand interaction differences between CRBP-I and CRBP-II
Title: New insights on the protein-ligand interaction differences between the two primary cellular retinol carriers.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma.
Title: Methylation of CLDN6, FBN2, RBP1, RBP4, TFPI2, and TMEFF2 in esophageal squamous cell carcinoma.

Submit: New GeneRIF Correction See all (21)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P09455	Q9HCU9	BRMS1	HPRD	PubMed
P09455	Breast cancer metastasis suppressor 1 like	BRMS1L	HPRD	PubMed
P09455	Q13547	HDAC1	HPRD	PubMed
P09455	Q92769	HDAC2	HPRD	PubMed
P09455	Q9UK53	ING1	HPRD	PubMed
P09455	O95237	LRAT	HPRD	PubMed
P09455	P98164	LRP2	HPRD	PubMed
P09455	O95402	MED26	HPRD	PubMed
P09455	Q09028	RBBP4	HPRD	PubMed
P09455	Q16576	RBBP7	HPRD	PubMed
P09455	O75446	SAP30	HPRD	PubMed
P09455	Q96ST3	SIN3A	HPRD	PubMed
P09455	Chromosome 2 open reading frame 59		HPRD	PubMed
BioGRID:111881	BioGRID:109833	ING1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111881	BioGRID:110216	LRP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111881	BioGRID:114346	SAP30	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111881	BioGRID:116983	SIRT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111881	BioGRID:116593	SIRT2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111881	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
lipid binding	IEA Inferred from Electronic Annotation more info
retinal binding	IEA Inferred from Electronic Annotation more info
retinoid binding	TAS Traceable Author Statement more info	PubMed
retinol binding	IEA Inferred from Electronic Annotation more info
transporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
regulation of granulocyte differentiation	IEA Inferred from Electronic Annotation more info
response to vitamin A	IEA Inferred from Electronic Annotation more info
retinoic acid metabolic process	IEA Inferred from Electronic Annotation more info
retinol metabolic process	IEA Inferred from Electronic Annotation more info
vitamin A metabolic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: retinol-binding protein 1

Names: retinol-binding protein 1; CRBP-I; cellular retinol-binding protein I; retinol-binding protein 1, cellular

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_001130992.1 → 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)

AK309492, BX092411

Consensus CDS

CCDS46926.1

UniProtKB/TrEMBL

F2Z2F2

Related

ENSP00000429166, OTTHUMP00000225120, ENST00000492918, OTTHUMT00000341496

Conserved Domains (1) summary

cl01150
Location:68 – 146
Blast Score: 114

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
NM_001130993.1 → 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)

AK309492, DC356836, DC394326

Consensus CDS

CCDS46925.1

UniProtKB/TrEMBL

E7EWV0

Related

ENSP00000424813, OTTHUMP00000217139, ENST00000483943, OTTHUMT00000341497

Conserved Domains (1) summary

cl01150
Location:68 – 149
Blast Score: 114

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family
NM_002899.3 → NP_002890.2 retinol-binding protein 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

AC046134, BC121052, BU734286, DC356836

Consensus CDS

CCDS3110.2

UniProtKB/Swiss-Prot

P09455

Related

ENSP00000232219, OTTHUMP00000208586, ENST00000232219, OTTHUMT00000341495

Conserved Domains (1) summary

cl01150
Location:68 – 196
Blast Score: 140

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

139236276..139258671, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

136611722..136634115, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC046134.8 (137469..159679)	None
genomic	CH471052.2	EAW79035.1
genomic	X07437.1	CAA30318.1
genomic	X07438.1	None
mRNA	AK290315.1	BAF83004.1
mRNA	AK309492.1	None
mRNA	BC121052.2	AAI21053.1
mRNA	BU734286.1	None
mRNA	BX092411.1	None
mRNA	CR541979.1	CAG46776.1
mRNA	CR542005.1	CAG46802.1
mRNA	DC356836.1	None
mRNA	DC394326.1	None
mRNA	M11433.1	AAA60257.1
mRNA	M36809.1	AAA35714.1
other-genetic	EU831403.1	ACE87090.1
other-genetic	EU831495.1	ACE86414.1