FABP1 (fatty acid binding protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 2168
Gene name Fatty acid binding protein 1
Gene symbol FABP1
Synonyms (NCBI Gene)
FABPLL-FABP
Chromosome 2
Chromosome location 2p11.2
Summary 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 fa
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs Transcription factors Other IDs Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT018987 hsa-miR-335-5p Microarray 18185580
MIRT733562 hsa-miR-603 Immunocytochemistry (ICC)Western blotting 34056002
MIRT733562 hsa-miR-603 Western blottingqRT-PCR 34056002
MIRT1988836 hsa-miR-4775 CLIP-seq
MIRT1988837 hsa-miR-590-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Other IDs Associated diseases
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Transcription factor Regulation Reference
HNF1A Unknown 20357450
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs Transcription factors Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IEA
GO:0005504 Function Fatty acid binding IBA
GO:0005515 Function Protein binding IPI 25416956, 28514442, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
134650 3555 ENSG00000163586
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07148
Protein name Fatty acid-binding protein, liver (Fatty acid-binding protein 1) (Liver-type fatty acid-binding protein) (L-FABP)
Protein function Plays a role in lipoprotein-mediated cholesterol uptake in hepatocytes (PubMed:25732850). Binds cholesterol (PubMed:25732850). Binds free fatty acids and their coenzyme A derivatives, bilirubin, and some other small molecules in the cytoplasm. M
PDB 2F73 , 2L67 , 2L68 , 2LKK , 2PY1 , 3B2H , 3B2I , 3B2J , 3B2K , 3B2L , 3STK , 3STM , 3STN , 3VG2 , 3VG3 , 3VG4 , 3VG5 , 3VG6 , 3VG7 , 6DO6 , 6DO7 , 6DRG , 6MP4 , 7DZE , 7DZF , 7DZG , 7DZH , 7DZI , 7DZJ , 7DZK , 7DZL , 7FXO , 7FY8 , 7FYA , 7G00 , 7G0W , 7G1X
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14651 Lipocalin_7 1 → 127 Domain
Sequence
Sequence length 127
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE THROMBOCYTOPENIC PURPURA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIPIDOSES — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIPOIDOSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abetalipoproteinemia Abetalipoproteinemia BEFREE 17605029
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Kidney Tubular Necrosis Renal tubular necrosis CTD_human_DG 18368030
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 21251264
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia LHGDN 16772708
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia Pubtator 26010898 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30947347
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 25338211
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 25338211
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 29754444
★★★★★
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus BEFREE 28807490
★★★★★
★☆☆☆☆
Found in Text Mining only