CRABP1 (Cellular Retinoic Acid Binding Protein 1)

A key intracellular transporter of retinoic acid involved in cell differentiation and growth regulation

Gene Information Card

Symbol CRABP1
Full Name Cellular Retinoic Acid Binding Protein 1
Gene Type protein-coding
Chromosomal Location 15q25.1
NCBI Gene ID 1381 ncbi.nlm.nih.gov/gene/1381
Ensembl ID ENSG00000166451
UniProt ID P29762
OMIM ID 180230
HGNC ID 2338
Aliases CRABP, CRABP-I, RBP5

Description

CRABP1 encodes a small cytosolic protein that binds retinoic acid (RA) with high affinity and facilitates its transport to the nucleus, where RA regulates gene expression via retinoic acid receptors (RARs). CRABP1 modulates RA availability and signaling, playing a critical role in embryonic development, cell differentiation, and growth control. Altered expression is implicated in various cancers and developmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) Dysregulated CRABP1 expression alters retinoic acid signaling, affecting cell proliferation and differentiation. ClinVar, COSMIC
Developmental anomalies CRABP1 mutations may disrupt RA transport during embryogenesis, leading to malformations. OMIM
Retinoic acid resistance Reduced CRABP1 levels impair RA nuclear delivery, contributing to therapy resistance in certain cancers. NCBI Gene

Expression Profile

Tissue Expression
Tissue nTPM level
Skin 12.5 Medium
Adipose tissue 8.3 Low
Breast 6.1 Low
Testis 4.7 Low
Brain 2.1 Not detected
Cell Line Expression
Cell Line nTPM Notes
MCF7 (breast cancer) 15.2 Moderate expression
A549 (lung cancer) 9.8 Low expression
HeLa (cervical cancer) 7.4 Low expression
HepG2 (liver cancer) 3.1 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1A>G (p.Met1?) missense <0.01% Potential loss of start codon, likely loss of function
c.82G>A (p.Gly28Arg) missense <0.01% Unknown functional effect
c.314C>T (p.Pro105Leu) missense <0.01% Unknown functional effect
Mutation functional classification

Loss of Function (LOF)

Mutations affecting the start codon or critical binding residues may impair RA binding and transport.

Gain of Function (GOF)

Not reported.

Dominant Negative (DN)

Not reported.

Gene Ontology (GO)

• retinoic acid binding • intracellular retinoic acid transport
• nucleus • cytoplasm
• protein homodimerization activity

Pathways

Retinoic acid signaling pathway
Nuclear receptor transcription pathway

Protein Summary

CRABP1 is a 15.6 kDa cytosolic protein that binds all-trans-retinoic acid with high affinity. It shuttles RA from the cytoplasm to the nucleus, where RA activates RAR/RXR heterodimers to regulate transcription of genes involved in cell cycle, differentiation, and apoptosis. CRABP1 also modulates RA metabolism and protects cells from excess RA.

Related Products

Product name Cat.No. Species Gene ID
CRABP1 Knockout HEK293 Cell Line EDJ-KQ4341 Human 1381 Details Get a Quote
CRABP1 Knockout A-549 Cell Line EDJ-KQ26837 Human 1381 Details Get a Quote
CRABP1 Knockout HeLa Cell Line EDJ-KQ52976 Human 1381 Details Get a Quote
CRABP1 Knockout HCT 116 Cell Line EDJ-KQ69939 Human 1381 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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