FABP5 (Fatty Acid Binding Protein 5)
A lipid chaperone implicated in cancer, metabolic disorders, and skin barrier function.
Gene Information Card
| Symbol | FABP5 |
|---|---|
| Full Name | Fatty Acid Binding Protein 5 |
| Gene Type | protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 2171 ncbi.nlm.nih.gov/gene/2171 |
| Ensembl ID | ENSG00000164687 |
| UniProt ID | Q01469 |
| OMIM ID | 605168 |
| HGNC ID | 3560 |
| Aliases | E-FABP, EFABP, PA-FABP, KFABP, S-FABP, mal1 |
Description
FABP5 encodes the fatty acid binding protein 5, a small cytoplasmic protein that binds long-chain fatty acids and other hydrophobic ligands. It plays a role in lipid transport, metabolism, and signaling, particularly in the skin, adipose tissue, and macrophages. FABP5 is involved in regulating gene expression by delivering ligands to nuclear receptors such as PPARβ/δ. It has been implicated in various cancers, metabolic diseases, and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | FABP5 overexpression promotes tumor growth, invasion, and metastasis by enhancing lipid metabolism and PPARβ/δ signaling. | COSMIC; multiple studies (e.g., breast, prostate, liver cancer) |
| Psoriasis | FABP5 is upregulated in psoriatic skin, contributing to abnormal keratinocyte proliferation and inflammation. | OMIM; literature |
| Metabolic syndrome | FABP5 deficiency alters lipid metabolism and insulin sensitivity in animal models. | OMIM; literature |
| Atherosclerosis | FABP5 in macrophages promotes foam cell formation and inflammation. | Literature (not directly in ClinVar) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | High | Highest expression in skin, especially in keratinocytes |
| Adipose tissue | High | Expressed in adipocytes |
| Liver | Low | Low expression |
| Small intestine | Moderate | Expressed in enterocytes |
| Brain | Low | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| A549 | Moderate | Lung cancer cell line |
| MCF7 | Low | Breast cancer cell line (ER+) |
| HepG2 | Low | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of function (not well characterized) |
| c.IVS1+1G>A | Splice site | Rare | Potential splicing defect (not well characterized) |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in FABP5 are rare and not well documented in ClinVar. Animal models suggest that FABP5 knockout leads to reduced skin barrier function and altered lipid metabolism.
Gain of Function (GOF)
Gain-of-function mutations are not reported. Overexpression of FABP5 in cancer is often due to transcriptional upregulation rather than mutation.
Dominant Negative (DN)
No dominant-negative mutations have been described for FABP5.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid binding | • lipid binding |
| • transporter activity | • nuclear receptor binding |
| • cytoplasm | • nucleus |
| • plasma membrane | • lipid transport |
| • fatty acid metabolic process | • cell differentiation |
| • response to oxidative stress |
Pathways
• PPAR signaling pathway
• Fatty acid metabolism
• Regulation of lipolysis in adipocytes
Protein Summary
FABP5 is a 15 kDa protein that binds long-chain fatty acids with high affinity. It is predominantly expressed in skin, adipose tissue, and macrophages. FABP5 facilitates intracellular fatty acid transport and can translocate to the nucleus to deliver ligands to PPARβ/δ, thereby modulating gene expression. It is involved in cell proliferation, differentiation, and inflammation. Overexpression of FABP5 has been linked to aggressive tumor phenotypes in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FABP5 Knockout MDA-MB-231 Cell Line | EDJ-KZ23 | Human | 2171 | Details Get a Quote |
| Fabp5 Knockout RAW 264.7 Cell Line | EDJ-KZ230 | Mouse | 16592 | Details Get a Quote |
| FABP5 Knockout HEK293 Cell Line | EDJ-KQ50265 | Human | 2171 | Details Get a Quote |
| FABP5 Knockout HeLa Cell Line | EDJ-KQ53198 | Human | 2171 | Details Get a Quote |
| FABP5 Knockout A-549 Cell Line | EDJ-KQ61677 | Human | 2171 | Details Get a Quote |
| FABP5 Knockout HCT 116 Cell Line | EDJ-KQ70160 | Human | 2171 | Details Get a Quote |
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