BAAT Gene

Name	bile acid CoA:amino acid N-acyltransferase
Description	The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Bile acid‐CoA:amino acid N‐acyltransferase (BAAT) is the sole enzyme responsible for conjugating primary and secondary bile acids with amino acids (taurine or glycine), a modification that is essential for increasing bile acid solubility and promoting efficient lipid absorption. Disruption of BAAT activity—resulting from genetic mutations—leads to an almost complete loss of conjugated bile acids in serum and bile, which in turn causes malabsorption of fats and fat‐soluble vitamins as exemplified in familial hypercholanemia (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In murine models, hepatic transcription factors such as HNF4α directly regulate BAAT expression, underscoring the enzyme’s critical role in bile acid conjugation and homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, BAAT is localized predominantly to peroxisomes in hepatocytes, indicating that bile acid reconjugation takes place within these organelles."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " At the molecular level, BAAT utilizes an essential catalytic triad—comprising Cys‐235, His‐362, and Asp‐328—for nucleophilic attack on bile acid–CoA, a mechanism that is critical for efficient amidation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition, clinical observations have shown that BAAT deficiency not only causes disruptions in bile acid conjugation—leading to cholestasis and growth failure in pediatric patients"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}, {"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "—but may also serve as a biomarker in hepatoblastoma, where altered BAAT expression is associated with dysregulation by microRNAs."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Furthermore, regulatory cascades modulated by nuclear receptors, including FXR, can influence BAAT expression and overall bile acid metabolism in contexts of liver injury."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Victoria E H Carlton, Baruch Z Harris, Erik G Puffenberger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1147"}], "href": "https://doi.org/10.1038/ng1147"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12704386"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12704386"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Kenneth D R Setchell, James E Heubi, Sohela Shah, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Gastroenterology (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1053/j.gastro.2013.02.004"}], "href": "https://doi.org/10.1053/j.gastro.2013.02.004"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23415802"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23415802"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yusuke Inoue, Ai-Ming Yu, Junko Inoue, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hepatocyte nuclear factor 4alpha is a central regulator of bile acid conjugation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M311015200"}], "href": "https://doi.org/10.1074/jbc.M311015200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14583614"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14583614"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Antonella Pellicoro, Fiona A J van den Heuvel, Mariska Geuken, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.21528"}], "href": "https://doi.org/10.1002/hep.21528"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17256745"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17256745"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Mindan K Sfakianos, Landon Wilson, Michael Sakalian, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M207463200"}], "href": "https://doi.org/10.1074/jbc.M207463200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12239217"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12239217"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Zighereda Ogbah, Laura Visa, Celia Badenas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2350-14-26"}], "href": "https://doi.org/10.1186/1471-2350-14-26"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23413917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23413917"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Julia von Frowein, Philipp Pagel, Roland Kappler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MicroRNA-492 is processed from the keratin 19 gene and up-regulated in metastatic hepatoblastoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.24125"}], "href": "https://doi.org/10.1002/hep.24125"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21319197"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21319197"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Qiang Meng, Xin-Li Chen, Chang-Yuan Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alisol B 23-acetate protects against ANIT-induced hepatotoxity and cholestasis, due to FXR-mediated regulation of transporters and enzymes involved in bile acid homeostasis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Toxicol Appl Pharmacol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.taap.2015.01.020"}], "href": "https://doi.org/10.1016/j.taap.2015.01.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25655198"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25655198"}]}]}]}
Synonyms	BACAT, BAT
Proteins	BAAT_HUMAN
NCBI Gene ID	570
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BAAT has 3,729 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 120 datasets.

Click the + buttons to view associations for BAAT from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BAAT Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by BAAT gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BAAT gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of BAAT gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BAAT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BAAT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BAAT gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving BAAT protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BAAT gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BAAT gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BAAT gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of BAAT gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BAAT gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BAAT gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with BAAT gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BAAT gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BAAT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BAAT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with BAAT gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with BAAT gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BAAT gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BAAT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BAAT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing BAAT protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing BAAT protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BAAT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BAAT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of BAAT gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BAAT gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with BAAT gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with BAAT gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by BAAT gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BAAT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BAAT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BAAT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with BAAT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for BAAT protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at BAAT gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BAAT gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of BAAT gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing BAAT from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.