RBP7 retinol binding protein 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RBP7provided by HGNC
Official Full Name: retinol binding protein 7provided by HGNC
Primary source: HGNC:HGNC:30316
See related: Ensembl:ENSG00000162444 MIM:608604; AllianceGenome:HGNC:30316
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: CRBP4; CRABP4; CRBPIV
Summary: The protein encoded by this gene is a member of the cellular retinol-binding protein (CRBP) family, whose members are required for vitamin A stability and metabolism. The encoded protein binds all-trans-retinol and is structurally similar to other CRBPs; however, it has a lower binding affinity for retinol than other CRBPs. [provided by RefSeq, Aug 2016]
Expression: Biased expression in fat (RPKM 138.2), spleen (RPKM 25.4) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.22

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (9997228..10016021)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (9540276..9559075)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (10057286..10076079)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

RBP7 Regulated by EBF1 Affects Th2 Cells and the Oocyte Meiosis Pathway in Bone Metastases of Bladder Urothelial Carcinoma.
Title: RBP7 Regulated by EBF1 Affects Th2 Cells and the Oocyte Meiosis Pathway in Bone Metastases of Bladder Urothelial Carcinoma.
Reduced Expression of RBP7 is Associated with Resistance to Tamoxifen In Luminal A Breast Cancer.
Title: Reduced Expression of RBP7 is Associated with Resistance to Tamoxifen In Luminal A Breast Cancer.
Human CRBP IV belongs to a clearly distinct CRBP subfamily and suggest a relatively different mode of retinol binding for this binding protein.
Title: Ligand binding and structural analysis of a human putative cellular retinol-binding protein.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 retinol binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in fatty acid transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: retinoid-binding protein 7

Names: cellular retinoic acid-binding protein 4; cellular retinoic acid-binding protein IV; cellular retinol binding protein 7; putative cellular retinol-binding protein CRBP IV; retinol binding protein 7, cellular

NP_443192.1

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.

mRNA and Protein(s)

NM_052960.3 → NP_443192.1 retinoid-binding protein 7

See identical proteins and their annotated locations for NP_443192.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the protein-coding transcript.

Source sequence(s)

AL590639, BC063013

Consensus CDS

CCDS109.1

UniProtKB/Swiss-Prot

B2R517, Q5SWJ4, Q96R05

Related

ENSP00000294435.7, ENST00000294435.8

Conserved Domains (1) summary

pfam00061
Location:6 → 134

Lipocalin; Lipocalin / cytosolic fatty-acid binding protein family

RNA

NR_138250.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL590639, BC033883

Related

ENST00000315901.4