FABP1
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Also known as L-FABP
Summary
FABP1 (fatty acid binding protein 1, HGNC:3555) is a protein-coding gene on chromosome 2p11.2, encoding Fatty acid-binding protein, liver (P07148). Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes.
This gene encodes the fatty acid binding protein found in liver. Fatty acid binding proteins are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands. This protein and FABP6 (the ileal fatty acid binding protein) are also able to bind bile acids. It is thought that FABPs roles include fatty acid uptake, transport, and metabolism.
Source: NCBI Gene 2168 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 21 total
- Druggable target: yes — 2 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_001443
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:3555 |
| Approved symbol | FABP1 |
| Name | fatty acid binding protein 1 |
| Location | 2p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | L-FABP |
| Ensembl gene | ENSG00000163586 |
| Ensembl biotype | protein_coding |
| OMIM | 134650 |
| Entrez | 2168 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000295834, ENST00000393750, ENST00000472846, ENST00000495375, ENST00000877228, ENST00000877229, ENST00000877230, ENST00000877231, ENST00000945195, ENST00000945196
RefSeq mRNA: 1 — MANE Select: NM_001443
NM_001443
CCDS: CCDS2001
Canonical transcript exons
ENST00000295834 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001076278 | 88122982 | 88123104 |
| ENSE00001076280 | 88124494 | 88124586 |
| ENSE00001876850 | 88127951 | 88128062 |
| ENSE00003514397 | 88126176 | 88126348 |
Expression profiles
Bgee: expression breadth ubiquitous, 168 present calls, max score 99.99.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 32.1513 / max 7588.9007, expressed in 157 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29593 | 32.1513 | 157 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 99.99 | gold quality |
| colonic mucosa | UBERON:0000317 | 99.97 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.97 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 99.96 | gold quality |
| ileal mucosa | UBERON:0000331 | 99.95 | gold quality |
| rectum | UBERON:0001052 | 99.94 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.91 | gold quality |
| liver | UBERON:0002107 | 99.73 | gold quality |
| caecum | UBERON:0001153 | 97.85 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 97.82 | gold quality |
| vermiform appendix | UBERON:0001154 | 97.60 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 97.59 | gold quality |
| small intestine | UBERON:0002108 | 96.91 | gold quality |
| transverse colon | UBERON:0001157 | 96.64 | gold quality |
| duodenum | UBERON:0002114 | 96.25 | gold quality |
| adult organism | UBERON:0007023 | 94.15 | gold quality |
| intestine | UBERON:0000160 | 92.97 | gold quality |
| large intestine | UBERON:0000059 | 91.64 | gold quality |
| colon | UBERON:0001155 | 91.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 90.65 | gold quality |
| kidney | UBERON:0002113 | 88.71 | gold quality |
| kidney epithelium | UBERON:0004819 | 87.43 | gold quality |
| nephron tubule | UBERON:0001231 | 87.36 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 86.54 | gold quality |
| renal glomerulus | UBERON:0000074 | 83.95 | gold quality |
| sigmoid colon | UBERON:0001159 | 83.30 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 83.17 | gold quality |
| jejunum | UBERON:0002115 | 82.36 | gold quality |
| cortex of kidney | UBERON:0001225 | 79.95 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 22574.10 |
| E-MTAB-8410 | yes | 21299.01 |
| E-MTAB-7407 | yes | 13504.53 |
| E-CURD-46 | yes | 8972.04 |
| E-MTAB-10553 | yes | 8892.58 |
| E-CURD-122 | yes | 6737.35 |
| E-CURD-88 | yes | 6219.04 |
| E-HCAD-9 | yes | 5206.67 |
| E-MTAB-9906 | yes | 3188.21 |
| E-ANND-5 | yes | 805.58 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPA, FOXA1, GATA4, GATA5, GATA6, HNF1A, HNF4A, PDX1, PPARA, PPARG, PPARGC1B, RXRA, TFAP2A
Literature-anchored findings (GeneRIF, showing 40)
- evidence that FABP is a target for tamoxifen and that target proteins are implicated in cell lipid metabolism (PMID:12121132)
- besides I-FABP, also L-FABP is a useful plasma marker for the detection of intestinal injury, especially in patients undergoing intestinal surgery (PMID:14563446)
- L-FABP has a significant role in oxidative stress (PMID:16175609)
- Urinary L-FABP levels appear to be associated with the progression of diabetic nephropathy, and NK 104 may be effective in ameliorating tubulointerstitial damage in early diabetic nephropathy. (PMID:16249547)
- EPO supplementation may ameliorate renal tubular damage, in part, due to a reduction of oxidative stress in CRF patients with anemia. (PMID:16772708)
- Renal L-FABP may reduce the oxidative stress in the unilateral ureteral obstruction model, ameliorating tubulointerstitial damage. (PMID:17003471)
- L-FABP may play a key role in the progress of invasiveness and metastasis in human breast cancer. (PMID:17428383)
- there is a functional relevance of the FABP1 T94A SNP in hepatic fatty acid and lipid metabolism in humans (PMID:17485234)
- These results have demonstrated that C. trachomatis can productively infect liver cells and utilize FABP-transported long-chain fatty acids for its own biosynthesis. (PMID:17526850)
- Intestinal L-FABP expression was investigated by immuno-histochemistry, western blot, ELISA and Northern blot analysis (PMID:17605029)
- The Ala/Ala(94)-mutation contributed significantly to reduced glycogenolysis and less severe hyperglycemia in lipid-exposed humans and was further associated with reduced body weight in a large cohort. (PMID:17698986)
- Hypoxia enhances the expression of FABP1 in term human trophoblasts, suggesting that fatty acid binding proteins support fat accumulation in the hypoxic placenta. (PMID:17826730)
- Urinary L-FABP levels represent a sensitive and predictive early biomarker of acute kidney injury after cardiac surgery. (PMID:18094680)
- Data show that genotypes for the A–>G (Thr94Ala) polymorphism (rs2241883) of FABP1 was associated (P<0.05) with the prevalence of atherothrombotic cerebral infarction. (PMID:18506375)
- The results suggest that urinary L-FABP levels are significantly increased in patients with septic shock and that PMX-F treatment is effective in reducing these levels. (PMID:18838948)
- Urinary fatty acid-binding protein 1: an early predictive biomarker of kidney injury. (Review) (PMID:19019918)
- study demonstrated the direct, albeit weak, interaction between MES buffer (2-(N-morpholino)ethanesulfonic acid) & liver fatty acid binding protein; finding of buffer-induced changes in protein dynamics offers a clue to how hLFABP accommodates its ligands (PMID:19217864)
- paradoxically underexpressed in nonalcoholic steatohepatitis (PMID:19330863)
- renal expression and urinary excretion of hL-FABP significantly reflected the severity of tubulointerstitial damage in FA-induced nephropathy (PMID:19435794)
- Studies indicate that the members of the FABP family present in mammals that appear to be more closely related to the L-BABPs are the liver FABPs and the ileal BABPs. (PMID:19441025)
- two FABPs display differences in localization, regulation and developmental pattern. (PMID:19499240)
- While B-FABP is over expressed in renal cell carcinoma in comparison to normal renal tissues L-FABP appears to be reduced in tumor tissue (PMID:19622156)
- High levels of the tubular inflammation marker u-LFABP predict the initiation and progression to diabetic nephropathy and all-cause mortality, independent of urinary albumin excretion rate and other established risk factors. (PMID:20185732)
- the slow dynamics of human liver fatty acid binding protein (hLFABP) that was shown previously to be highly flexible on millisecond timescales was quantitatively characterized in detail (PMID:20550918)
- The serum level of I-FABP can be used for assessing the gut dysfunction and disease severity of acute pancreatitis. (PMID:20575163)
- the T94A mutant of L-FABP lowered free fatty acid uptake but had no effect on FFA efflux (PMID:20721681)
- Our study suggests that L-FABP is a useful biomarker for early detection of acute kidney injury. (PMID:21153750)
- Renal hL-FABP reduced the oxidative stress in aristolochic acid-induced nephrotoxicity and attenuated tubulointerstitial damage. (PMID:21356355)
- Review: summarizes the findings on the pathophysiological roles and dynamics of renal human L-FABP in the recent experimental studies performed in a transgenic mouse model. (PMID:21504508)
- liver fatty acid-binding protein (LFABP) in apo, holo, and intermediate states of palmitic acid engagement;Apo-LFABP undergoes structural remodeling, where the first palmitate ingress creates the atomic environment for placement of the second palmitate. (PMID:21757748)
- Data show that IL-FABP mRNA was over-expressed in renal tumour tissue. (PMID:21767383)
- FABP1 gene is highly transcribed in liver-derived cells, and regulated predominantly by liver-enriched transcription factors HNF3B and CEBPA. (PMID:21856370)
- in kidney allograft recipients, L-FABP may be a potential early marker for impaired kidney function/injury (PMID:21996226)
- Common variants of the liver fatty acid binding protein genes 1-4 influence the risk of type 2 diabetes and insulin resistance in Spanish population (PMID:22396741)
- The present study suggests that genetic variations within FABP1 influence susceptibility to non-alcohol fatty liver disease. (PMID:22465531)
- Studies indicate the most studied biomarkers for acute kidney injury are neutrophil gelatinase-associated lipocalin-2, kidney injury molecule-1, IL-18, cystatin C, N-acetyl-beta-D-glucosaminidase, liver fatty-acid binding protein, and heat shock protein 72. (PMID:22515481)
- Baicalin was able to enhance both L-FABP expression and activity of intracellular SOD and GSH, and therefore protected hepatocytes from oxidative stress. (PMID:22525507)
- PDX1 repression of FABP1, LCT, and SI suggests a role for PDX1 in patterning anterior intestinal development. (PMID:22640736)
- Serum FABP1 correlates positively with obesity and insulin resistance in Chinese young adults. (PMID:23144966)
- Urinary L-FABP and NGAL increased at an early stage after cardiac surgery. The combination of the two biomarkers enhanced the accuracy of the early detection of postoperative acute kidney injury after cardiac surgery before a rise in serum creatinine. (PMID:23167703)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fabp1a | ENSDARG00000019357 |
| danio_rerio | fabp1b.1 | ENSDARG00000059227 |
| danio_rerio | fabp1b.2 | ENSDARG00000103398 |
| mus_musculus | Fabp1 | ENSMUSG00000054422 |
| rattus_norvegicus | Fabp1 | ENSRNOG00000006675 |
| caenorhabditis_elegans | WBGENE00002259 | |
| caenorhabditis_elegans | WBGENE00002260 |
Paralogs (15): RBP2 (ENSG00000114113), RBP1 (ENSG00000114115), FABP3 (ENSG00000121769), RBP5 (ENSG00000139194), CRABP2 (ENSG00000143320), FABP2 (ENSG00000145384), PMP2 (ENSG00000147588), RBP7 (ENSG00000162444), FABP7 (ENSG00000164434), FABP5 (ENSG00000164687), CRABP1 (ENSG00000166426), FABP6 (ENSG00000170231), FABP4 (ENSG00000170323), FABP12 (ENSG00000197416), FABP9 (ENSG00000205186)
Protein
Protein identifiers
Fatty acid-binding protein, liver — P07148 (reviewed: P07148)
Alternative names: Fatty acid-binding protein 1, Liver-type fatty acid-binding protein
All UniProt accessions (3): P07148, A8MW49, Q6FGL7
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes. Binds cholesterol. Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. May be involved in intracellular lipid transport.
Subcellular location. Cytoplasm.
Domain organisation. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior.
Similarity. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family.
RefSeq proteins (1): NP_001434* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000463 | Fatty_acid-bd | Domain |
| IPR012674 | Calycin | Homologous_superfamily |
| IPR031259 | ILBP | Family |
Pfam: PF14651
UniProt features (30 total): modified residue 13, strand 12, sequence variant 2, helix 2, chain 1
Structure
Experimental structures (PDB)
37 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7FXO | X-RAY DIFFRACTION | 1.3 |
| 3VG7 | X-RAY DIFFRACTION | 1.44 |
| 7DZK | X-RAY DIFFRACTION | 1.54 |
| 3B2H | X-RAY DIFFRACTION | 1.55 |
| 3STK | X-RAY DIFFRACTION | 1.55 |
| 7DZE | X-RAY DIFFRACTION | 1.55 |
| 7DZG | X-RAY DIFFRACTION | 1.6 |
| 7DZJ | X-RAY DIFFRACTION | 1.63 |
| 7DZL | X-RAY DIFFRACTION | 1.64 |
| 7G0W | X-RAY DIFFRACTION | 1.64 |
| 7DZH | X-RAY DIFFRACTION | 1.65 |
| 7DZI | X-RAY DIFFRACTION | 1.65 |
| 7G1X | X-RAY DIFFRACTION | 1.65 |
| 7DZF | X-RAY DIFFRACTION | 1.7 |
| 3B2K | X-RAY DIFFRACTION | 1.73 |
| 3B2I | X-RAY DIFFRACTION | 1.86 |
| 7FYA | X-RAY DIFFRACTION | 1.88 |
| 3B2J | X-RAY DIFFRACTION | 2 |
| 3VG5 | X-RAY DIFFRACTION | 2 |
| 3STM | X-RAY DIFFRACTION | 2.22 |
| 3VG3 | X-RAY DIFFRACTION | 2.22 |
| 3VG6 | X-RAY DIFFRACTION | 2.22 |
| 7FY8 | X-RAY DIFFRACTION | 2.23 |
| 3B2L | X-RAY DIFFRACTION | 2.25 |
| 3VG2 | X-RAY DIFFRACTION | 2.4 |
| 2F73 | X-RAY DIFFRACTION | 2.5 |
| 3VG4 | X-RAY DIFFRACTION | 2.5 |
| 6MP4 | X-RAY DIFFRACTION | 2.5 |
| 3STN | X-RAY DIFFRACTION | 2.6 |
| 7G00 | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07148-F1 | 95.25 | 0.90 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (13): 1, 78, 90, 100, 121, 11, 31, 36, 39, 46, 51, 56, 57
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-163560 | Triglyceride catabolism |
| R-HSA-189483 | Heme degradation |
| R-HSA-1989781 | PPARA activates gene expression |
| R-HSA-400206 | Regulation of lipid metabolism by PPARalpha |
| R-HSA-9707564 | Cytoprotection by HMOX1 |
MSigDB gene sets: 333 (showing top):
REACTOME_TRIGLYCERIDE_CATABOLISM, GOBP_LIPID_MODIFICATION, GOBP_ACYLGLYCEROL_HOMEOSTASIS, GOBP_DIGESTION, MODULE_92, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_TRANSPORT, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_ACID_SECRETION, GOBP_BEHAVIOR
GO Biological Process (5): fatty acid transport (GO:0015908), cellular response to hydrogen peroxide (GO:0070301), cellular response to hypoxia (GO:0071456), cellular detoxification (GO:1990748), cellular oxidant detoxification (GO:0098869)
GO Molecular Function (5): chromatin binding (GO:0003682), fatty acid binding (GO:0005504), antioxidant activity (GO:0016209), protein binding (GO:0005515), lipid binding (GO:0008289)
GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), peroxisomal matrix (GO:0005782), cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Triglyceride metabolism | 1 |
| Metabolism of porphyrins | 1 |
| Regulation of lipid metabolism by PPARalpha | 1 |
| Metabolism of lipids | 1 |
| Cellular response to chemical stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 3 |
| cellular anatomical structure | 3 |
| lipid transport | 1 |
| monocarboxylic acid transport | 1 |
| cellular response to reactive oxygen species | 1 |
| response to hydrogen peroxide | 1 |
| response to hypoxia | 1 |
| cellular response to stress | 1 |
| cellular response to decreased oxygen levels | 1 |
| cellular process | 1 |
| cellular response to toxic substance | 1 |
| detoxification | 1 |
| cellular detoxification | 1 |
| lipid binding | 1 |
| monocarboxylic acid binding | 1 |
| molecular_function | 1 |
| cellular oxidant detoxification | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| peroxisome | 1 |
| microbody lumen | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1657 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FABP1 | GOT2 | P00505 | 957 |
| FABP1 | FABP2 | P12104 | 950 |
| FABP1 | FABP3 | P05413 | 927 |
| FABP1 | PPARA | Q07869 | 913 |
| FABP1 | CD36 | P16671 | 881 |
| FABP1 | SCARB1 | Q8WTV0 | 873 |
| FABP1 | HAVCR1 | Q96D42 | 872 |
| FABP1 | SCARB2 | Q14108 | 863 |
| FABP1 | FABP4 | P15090 | 816 |
| FABP1 | LCN2 | P30150 | 814 |
| FABP1 | CST3 | P01034 | 771 |
| FABP1 | APOB | P04114 | 734 |
| FABP1 | CPT1A | P50416 | 677 |
| FABP1 | OGA | O60502 | 667 |
| FABP1 | IGFBP7 | Q16270 | 644 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FABP1 | FLNA | psi-mi:“MI:0915”(physical association) | 0.560 |
| FLNA | FABP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPHA4 | FABP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FABP1 | GNPNAT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EPHA4 | FABP1 | psi-mi:“MI:0914”(association) | 0.560 |
| NME4 | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK5 | AKR1B10 | psi-mi:“MI:0914”(association) | 0.350 |
| FABP1 | NME2P1 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| FABP1 | GRB2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (19): FLNA (Two-hybrid), FLNA (Two-hybrid), FABP1 (Affinity Capture-MS), GNPNAT1 (Affinity Capture-MS), FABP1 (Two-hybrid), FABP1 (Two-hybrid), NME2P1 (Affinity Capture-MS), GNPNAT1 (Affinity Capture-MS), FABP1 (Affinity Capture-MS), FABP1 (Affinity Capture-MS), FABP1 (Affinity Capture-MS), FABP1 (Affinity Capture-MS), FABP1 (Affinity Capture-MS), DERL1 (Affinity Capture-Western), FABP1 (Affinity Capture-Western)
ESM2 similar proteins: A6NFH5, O01812, O02323, O42494, O45035, P02692, P02693, P07148, P0C241, P0DM59, P10289, P12104, P12710, P29498, P31416, P31417, P41496, P41509, P49924, P50119, P51161, P51162, P55050, P80020, P80226, P80425, P80856, P81399, P81400, P81653, P82289, P83409, Q02970, Q0Z7S8, Q17284, Q1AMT3, Q3T0Z2, Q45KW7, Q4VBT1, Q56JX9
Diamond homologs: A0A0K0MJ13, A0A0K0MJN3, A6NFH5, A6YLM6, A8MUU1, B7SUM8, C4N147, O01812, O01814, O02323, O02324, O02772, O08716, O13008, O15540, O42386, O45035, O76821, O97788, P02689, P02690, P02691, P02694, P02696, P04117, P05413, P06768, P07148, P07483, P09455, P0C6G6, P10790, P11404, P12710, P15090, P22935, P24526, P29373, P29498, P29762
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FABP1 | “up-regulates quantity” | “Fatty acid” | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
21 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
426 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:88124492:A:AC | donor_gain | 1.0000 |
| 2:88124493:C:CC | donor_gain | 1.0000 |
| 2:88124493:CA:C | donor_gain | 1.0000 |
| 2:88124583:CTGT:C | acceptor_gain | 1.0000 |
| 2:88124585:GTC:G | acceptor_loss | 1.0000 |
| 2:88124586:TC:T | acceptor_loss | 1.0000 |
| 2:88124587:C:CA | acceptor_loss | 1.0000 |
| 2:88124587:C:CC | acceptor_gain | 1.0000 |
| 2:88124588:T:A | acceptor_loss | 1.0000 |
| 2:88126246:TTGG:T | donor_gain | 1.0000 |
| 2:88127949:A:AC | donor_gain | 1.0000 |
| 2:88127950:C:CC | donor_gain | 1.0000 |
| 2:88124493:CATT:C | donor_gain | 0.9900 |
| 2:88124493:CATTG:C | donor_gain | 0.9900 |
| 2:88124584:TGT:T | acceptor_gain | 0.9900 |
| 2:88124585:GT:G | acceptor_gain | 0.9900 |
| 2:88127946:CT:C | donor_loss | 0.9900 |
| 2:88127947:TCA:T | donor_loss | 0.9900 |
| 2:88127948:CACC:C | donor_loss | 0.9900 |
| 2:88127950:C:A | donor_loss | 0.9900 |
| 2:88124488:ACT:A | donor_loss | 0.9800 |
| 2:88124489:CT:C | donor_loss | 0.9800 |
| 2:88124490:T:TC | donor_loss | 0.9800 |
| 2:88124491:TAC:T | donor_loss | 0.9800 |
| 2:88124492:ACATT:A | donor_loss | 0.9800 |
| 2:88124493:CAT:C | donor_gain | 0.9800 |
| 2:88126173:TACC:T | donor_loss | 0.9800 |
| 2:88126175:C:CT | donor_loss | 0.9800 |
| 2:88126240:A:AC | donor_gain | 0.9800 |
| 2:88123150:T:TC | acceptor_gain | 0.9700 |
AlphaMissense
854 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:88127999:A:C | Y7D | 0.988 |
| 2:88127998:T:G | Y7S | 0.985 |
| 2:88123066:G:C | S124R | 0.971 |
| 2:88123066:G:T | S124R | 0.971 |
| 2:88123068:T:G | S124R | 0.971 |
| 2:88124555:A:G | L91P | 0.971 |
| 2:88126227:G:C | F63L | 0.967 |
| 2:88126227:G:T | F63L | 0.967 |
| 2:88126229:A:G | F63L | 0.967 |
| 2:88126228:A:G | F63S | 0.966 |
| 2:88127999:A:T | Y7N | 0.965 |
| 2:88124579:A:T | V83D | 0.964 |
| 2:88127964:G:C | F18L | 0.964 |
| 2:88127964:G:T | F18L | 0.964 |
| 2:88127966:A:G | F18L | 0.964 |
| 2:88128004:C:T | G5D | 0.961 |
| 2:88124529:A:G | S100P | 0.960 |
| 2:88127999:A:G | Y7H | 0.957 |
| 2:88123060:T:A | R126S | 0.953 |
| 2:88123060:T:G | R126S | 0.953 |
| 2:88126273:A:G | F48S | 0.949 |
| 2:88127965:A:G | F18S | 0.949 |
| 2:88128004:C:A | G5V | 0.943 |
| 2:88127998:T:C | Y7C | 0.940 |
| 2:88128009:G:C | F3L | 0.940 |
| 2:88128009:G:T | F3L | 0.940 |
| 2:88128011:A:G | F3L | 0.940 |
| 2:88128010:A:G | F3S | 0.938 |
| 2:88124555:A:C | L91R | 0.933 |
| 2:88127957:C:G | A21P | 0.932 |
dbSNP variants (sampled 300 via entrez): RS1000074723 (2:88124280 T>C,G), RS1000878160 (2:88126006 C>T), RS1001112664 (2:88128486 T>C), RS1001263833 (2:88125177 C>A), RS1002422621 (2:88125572 G>A), RS1002776849 (2:88126154 A>T), RS1003372885 (2:88127398 T>C), RS1003881703 (2:88123854 A>T), RS1004781618 (2:88128291 T>C), RS1004896092 (2:88128030 G>A,C), RS1005720647 (2:88123474 A>G), RS1005829798 (2:88129644 A>C), RS1005901551 (2:88129359 A>G), RS1006018861 (2:88123787 C>T), RS1007038459 (2:88127430 A>G)
Disease associations
OMIM: gene MIM:134650 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_178 | Night sleep phenotypes | 3.000000e-08 |
| GCST006585_585 | Blood protein levels | 5.000000e-21 |
| GCST007614_37 | C-reactive protein levels | 5.000000e-10 |
| GCST008469_17 | Liver fibrosis in non-alcoholic fatty liver disease | 8.000000e-08 |
| GCST90011898_98 | Alanine aminotransferase levels | 4.000000e-09 |
| GCST90011900_4 | Serum alkaline phosphatase levels | 3.000000e-17 |
| GCST90013406_280 | Liver enzyme levels (alkaline phosphatase) | 1.000000e-26 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004458 | C-reactive protein measurement |
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5421 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
2 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 749,198 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL95 | TACRINE | 4 | 35,360 |
| CHEMBL8659 | OLEIC ACID | 2 | 713,838 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2241883 | Efficacy | 4 | fenofibrate | Hypertriglyceridemia |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2241883 | FABP1 | 4 | -1.50 | 1 | fenofibrate |
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Fatty acid-binding proteins
Most potent curated ligand interactions (3 total), top 3:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| fenofibrate | Inhibition | 7.62 | pKi |
| fenofibric acid | Inhibition | 6.48 | pKi |
| HTS01037 | Inhibition | 5.09 | pKi |
Binding affinities (BindingDB)
1 measured of 2 human assays (3 total across all organisms); most potent 1 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| 3,7,11,15-tetramethylhexadecanoic acid | KI | 38 nM |
ChEMBL bioactivities
31 potent at pChembl≥5 of 40 total, top 30 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 6.70 | Kd | 200 | nM | OLEIC ACID |
| 6.05 | Kd | 900 | nM | OLEIC ACID |
| 5.93 | IC50 | 1180 | nM | CHEMBL5612524 |
| 5.85 | IC50 | 1400 | nM | CHEMBL5394417 |
| 5.82 | IC50 | 1500 | nM | CHEMBL5396259 |
| 5.74 | IC50 | 1820 | nM | CHEMBL5612235 |
| 5.70 | Kd | 2000 | nM | CHEMBL471741 |
| 5.68 | IC50 | 2110 | nM | CHEMBL5613265 |
| 5.61 | IC50 | 2440 | nM | CHEMBL5612678 |
| 5.58 | IC50 | 2660 | nM | CHEMBL5614355 |
| 5.57 | IC50 | 2700 | nM | CHEMBL5396467 |
| 5.57 | IC50 | 2710 | nM | CHEMBL247920 |
| 5.54 | IC50 | 2900 | nM | CHEMBL5420532 |
| 5.52 | IC50 | 3020 | nM | CHEMBL5613315 |
| 5.49 | IC50 | 3240 | nM | CHEMBL5613794 |
| 5.48 | IC50 | 3300 | nM | CHEMBL5429880 |
| 5.44 | IC50 | 3600 | nM | CHEMBL5420842 |
| 5.42 | IC50 | 3800 | nM | CHEMBL5419154 |
| 5.40 | IC50 | 4000 | nM | CHEMBL247920 |
| 5.38 | IC50 | 4200 | nM | CHEMBL5420029 |
| 5.37 | IC50 | 4300 | nM | CHEMBL5436041 |
| 5.35 | IC50 | 4460 | nM | CHEMBL5556772 |
| 5.25 | IC50 | 5660 | nM | CHEMBL5612128 |
| 5.24 | IC50 | 5700 | nM | CHEMBL5439051 |
| 5.21 | IC50 | 6110 | nM | CHEMBL5611914 |
| 5.14 | IC50 | 7280 | nM | CHEMBL5517962 |
| 5.09 | Ki | 8170 | nM | CHEMBL1077990 |
| 5.07 | IC50 | 8500 | nM | CHEMBL6151098 |
| 5.06 | IC50 | 8710 | nM | CHEMBL5558673 |
| 5.06 | IC50 | 8630 | nM | CHEMBL5559644 |
PubChem BioAssay actives
35 with measured affinity, of 314 total; 30 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| Fenofibrate | 1800412: ANS Fluorescence Displacement Assay from Article 10.1021/bi401014k: “The human liver fatty acid binding protein T94A variant alters the structure, stability, and interaction with fibrates.” | ki | 0.0150 | uM |
| 3,7,11,15-tetramethylhexadecanoic acid | 1800412: ANS Fluorescence Displacement Assay from Article 10.1021/bi401014k: “The human liver fatty acid binding protein T94A variant alters the structure, stability, and interaction with fibrates.” | ki | 0.0350 | uM |
| (Z)-octadec-9-enoic acid | 407370: Binding affinity to L-FABP high binding affinity site by titration calorimetry method | kd | 0.2000 | uM |
| Fenofibric Acid | 1800412: ANS Fluorescence Displacement Assay from Article 10.1021/bi401014k: “The human liver fatty acid binding protein T94A variant alters the structure, stability, and interaction with fibrates.” | ki | 0.2500 | uM |
| 3-[2-(4-quinolin-8-ylsulfonylpiperazin-1-yl)sulfonylphenyl]phenol | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 1.1800 | uM |
| 3-[4-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenyl]propanoic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 1.4000 | uM |
| 2-[3-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenyl]-2-methylpropanoic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 1.5000 | uM |
| 4-[2-(4-quinolin-8-ylsulfonylpiperazin-1-yl)sulfonylphenyl]phenol | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 1.8200 | uM |
| (8-anilinonaphthalen-1-yl) hydrogen sulfate | 407367: Binding affinity to human L-FABP | kd | 2.0000 | uM |
| 4-[2-(4-quinolin-8-ylsulfonylpiperazin-1-yl)sulfonylphenyl]benzoic acid | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 2.1100 | uM |
| 8-[4-(quinolin-8-ylsulfonylamino)phenoxy]octanoic acid | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 2.4400 | uM |
| 4-[2-(4-quinolin-8-ylsulfonylpiperazin-1-yl)sulfonylphenyl]benzonitrile | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 2.6600 | uM |
| 1-[3-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenyl]cyclopropane-1-carboxylic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 2.7000 | uM |
| 2-[3-[2-(5-ethyl-3,4-diphenylpyrazol-1-yl)phenyl]phenoxy]acetic acid | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 2.7100 | uM |
| 2-[4-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenyl]acetic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 2.9000 | uM |
| 8-[3-(quinolin-8-ylsulfonylamino)phenoxy]octanoic acid | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 3.0200 | uM |
| 8-[3-[(4-phenylphenyl)sulfonylamino]phenoxy]octanoic acid | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 3.2400 | uM |
| 3-[3-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenyl]propanoic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 3.3000 | uM |
| 2-[4-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenoxy]propanoic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 3.6000 | uM |
| 2-[3-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenoxy]acetic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 3.8000 | uM |
| 2-[4-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenoxy]acetic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 4.2000 | uM |
| 2-[4-[2-chloro-4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenyl]acetic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 4.3000 | uM |
| 3-[3-(cyclopropylmethoxy)phenyl]-5-[(3-phenoxybenzoyl)amino]benzoic acid | 2075680: Inhibition of recombinant human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 4.4600 | uM |
| 8-[4-[2-(4-fluorophenyl)phenyl]sulfonylpiperazin-1-yl]sulfonylquinoline | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 5.6600 | uM |
| 2-[4-[4-[[5-cyclopropyl-3-(2,6-dichlorophenyl)-1,2-oxazol-4-yl]methoxy]phenyl]phenoxy]-2-methylpropanoic acid | 1987909: Displacement of 8-anilino-1-naphthalene-sulfonic acid from FABP1 (unknown origin) incubated for 3 mins by fluorescence based assay | ic50 | 5.7000 | uM |
| 8-[4-[2-(4-fluoro-2-methylphenyl)phenyl]sulfonylpiperazin-1-yl]sulfonylquinoline | 2126076: Inhibition of human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 6.1100 | uM |
| 3-(4-tert-butylphenyl)-5-[(3-phenoxybenzoyl)amino]benzoic acid | 2075680: Inhibition of recombinant human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 7.2800 | uM |
| (E)-4-[(2-methoxycarbonyl-5-thiophen-2-ylthiophen-3-yl)amino]-4-oxobut-2-enoic acid | 468322: Displacement of radiolabeled 1-anilinonaphthalene 8-sulfonic acid from LFABP expressed in Escherichia coli BL21 (DE3) by fluorescence spectrophotometry | ki | 8.1700 | uM |
| 3-[(3-phenoxybenzoyl)amino]-5-(3-propoxyphenyl)benzoic acid | 2075680: Inhibition of recombinant human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 8.6300 | uM |
| 3-(3-ethoxyphenyl)-5-[(3-phenoxybenzoyl)amino]benzoic acid | 2075680: Inhibition of recombinant human FABP1 incubated for 3 mins by fluorescence based analysis | ic50 | 8.7100 | uM |
CTD chemical–gene interactions
141 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases mutagenesis, affects methylation, affects cotreatment, affects expression | 7 |
| perfluorooctanoic acid | decreases expression, affects cotreatment, increases expression, affects expression | 5 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 4 |
| Oleic Acid | affects expression, affects cotreatment, increases expression, decreases expression, decreases reaction (+1 more) | 4 |
| pirinixic acid | affects binding, increases activity, increases expression | 3 |
| perfluorooctane sulfonic acid | affects cotreatment, increases expression, affects expression, decreases expression | 3 |
| Acetaminophen | affects cotreatment, decreases expression, increases expression | 3 |
| Amitriptyline | increases expression | 3 |
| Ketoconazole | increases expression | 3 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression, increases expression | 3 |
| Valproic Acid | decreases expression | 3 |
| Cyclosporine | decreases expression, increases expression | 3 |
| lasiocarpine | decreases expression | 2 |
| benzo(b)fluoranthene | decreases expression, affects expression, affects cotreatment | 2 |
| sodium arsenite | decreases methylation, decreases reaction, decreases expression, increases expression | 2 |
| sulindac sulfide | decreases reaction, increases expression, affects reaction | 2 |
| perfluorobutyric acid | affects expression, increases expression | 2 |
| perfluoro-n-nonanoic acid | affects cotreatment, affects expression, increases expression | 2 |
| GW 7647 | affects cotreatment, increases expression | 2 |
| perfluorohexanesulfonic acid | increases expression, affects cotreatment, affects expression | 2 |
| perfluorododecanoic acid | decreases expression | 2 |
| Amiodarone | increases expression | 2 |
| trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride | increases expression | 2 |
| Bezafibrate | affects cotreatment, affects localization, increases expression, decreases expression, decreases reaction | 2 |
| Chlorpromazine | increases expression | 2 |
| Clozapine | increases expression | 2 |
| Flecainide | increases expression | 2 |
| Fluoxetine | increases expression | 2 |
| Imipramine | increases expression | 2 |
| Perhexiline | increases expression | 2 |
ChEMBL screening assays
17 unique, capped per target: 17 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1102423 | Binding | Displacement of radiolabeled 1-anilinonaphthalene 8-sulfonic acid from LFABP expressed in Escherichia coli BL21 (DE3) by fluorescence spectrophotometry | Identification and characterization of a small molecule inhibitor of Fatty Acid binding proteins. — J Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Targeted by drugs: Fenofibrate, Fenofibric Acid