FABP1 (Fatty Acid Binding Protein 1)
Liver-type fatty acid binding protein involved in lipid metabolism and transport
Gene Information Card
| Symbol | FABP1 |
|---|---|
| Full Name | Fatty Acid Binding Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 2168 ncbi.nlm.nih.gov/gene/2168 |
| Ensembl ID | ENSG00000163586 |
| UniProt ID | P07148 |
| OMIM ID | 134650 |
| HGNC ID | 3555 |
| Aliases | L-FABP, FABPL |
Description
FABP1 encodes the liver-type fatty acid binding protein (L-FABP), a small cytoplasmic protein that binds long-chain fatty acids and other hydrophobic ligands. It plays a key role in intracellular fatty acid transport, lipid metabolism, and cellular signaling. Expressed primarily in liver, but also in intestine, kidney, and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | Altered FABP1 expression affects hepatic lipid accumulation and insulin sensitivity | Association studies (PMID: 25664888) |
| Hepatocellular carcinoma | Dysregulation of FABP1 contributes to lipid metabolism reprogramming in cancer cells | Expression profiling (PMID: 29360989) |
| Intestinal inflammation | FABP1 modulates fatty acid uptake and inflammatory response in enterocytes | Animal models (PMID: 23542858) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 1234.5 | High |
| Small intestine | 456.7 | Medium |
| Kidney | 234.1 | Medium |
| Heart | 12.3 | Low |
| Brain | 5.6 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 987.6 | Hepatocellular carcinoma cell line |
| Caco-2 | 345.2 | Colorectal adenocarcinoma cell line |
| HEK293 | 8.9 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | missense | 0.01% (gnomAD) | Potential loss of start codon; functional impact unknown |
| c.79G>A (p.Ala27Thr) | missense | 0.05% (gnomAD) | May alter ligand binding affinity |
| c.292C>T (p.Arg98Cys) | missense | 0.02% (gnomAD) | Reported in ClinVar as variant of uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants described.
Dominant Negative (DN)
Not documented.
View complete mutation data：
Gene Ontology (GO)
| • fatty acid binding (GO:0005504) | • cytoplasm (GO:0005737) |
| • fatty acid metabolic process (GO:0006631) | • fatty acid transport (GO:0015908) |
| • organelle membrane (GO:0031968) |
Pathways
• PPAR signaling pathway (KEGG: hsa03320)
• Fatty acid metabolism (Reactome: R-HSA-8978868)
Protein Summary
The FABP1 protein (L-FABP) is a 14 kDa intracellular lipid chaperone that binds long-chain fatty acids, bile acids, and other hydrophobic molecules. It facilitates fatty acid uptake, intracellular transport, and targeting to organelles for oxidation or esterification. L-FABP also participates in gene regulation by shuttling ligands to nuclear receptors such as PPARα.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FABP1 Knockout HEK293 Cell Line | EDJ-KQ3052 | Human | 2168 | Details Get a Quote |
| FABP12 Knockout HEK293 Cell Line | EDJ-KQ13351 | Human | 646486 | Details Get a Quote |
| FABP1 Knockout HeLa Cell Line | EDJ-KQ53196 | Human | 2168 | Details Get a Quote |
| FABP12 Knockout HeLa Cell Line | EDJ-KQ60606 | Human | 646486 | Details Get a Quote |
| FABP1 Knockout A-549 Cell Line | EDJ-KQ61674 | Human | 2168 | Details Get a Quote |
| FABP12 Knockout A-549 Cell Line | EDJ-KQ69076 | Human | 646486 | Details Get a Quote |
| FABP1 Knockout HCT 116 Cell Line | EDJ-KQ70157 | Human | 2168 | Details Get a Quote |
| FABP12 Knockout HCT 116 Cell Line | EDJ-KQ77429 | Human | 646486 | Details Get a Quote |
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