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.
View complete mutation data:
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 Services
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 |
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