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 gen... See more...

Aliases for BAAT Gene

Aliases for BAAT Gene

  • Bile Acid-CoA:Amino Acid N-Acyltransferase 2 3 4 5
  • BAT 2 3 4
  • Bile Acid CoA: Amino Acid N-Acyltransferase (Glycine N-Choloyltransferase) 2 3
  • Long-Chain Fatty-Acyl-CoA Hydrolase 3 4
  • Glycine N-Choloyltransferase 2 4
  • Bile Acid-CoA Thioesterase 3 4
  • Choloyl-CoA Hydrolase 3 4
  • BACAT 3 4
  • Bile Acid Coenzyme A: Amino Acid N-Acyltransferase (Glycine N-Choloyltransferase) 3
  • Bile Acid Coenzyme A:Amino Acid N-Acyltransferase (Glycine N-Choloyltransferase) 2
  • EC 2.3.1.65 4
  • EC 3.1.2.27 4
  • EC 3.1.2.2 4
  • BACD1 3
  • HCHO 3
  • BAAT 5

External Ids for BAAT Gene

Previous GeneCards Identifiers for BAAT Gene

  • GC09M094924
  • GC09M095867
  • GC09M097581
  • GC09M099503
  • GC09M099502
  • GC09M101202
  • GC09M103162
  • GC09M104122
  • GC09M073722
  • GC09M101360

Summaries for BAAT Gene

Entrez Gene Summary for BAAT Gene

  • 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]

GeneCards Summary for BAAT Gene

BAAT (Bile Acid-CoA:Amino Acid N-Acyltransferase) is a Protein Coding gene. Diseases associated with BAAT include Hypercholanemia, Familial and Bile Acid Conjugation Defect 1. Among its related pathways are Farnesoid X Receptor Pathway and Peroxisome. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is ACOT2.

UniProtKB/Swiss-Prot Summary for BAAT Gene

  • Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12810727, PubMed:8034703, PubMed:2037576, PubMed:12239217). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12810727, PubMed:8034703, PubMed:12239217). In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727).

Gene Wiki entry for BAAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAAT Gene

Genomics for BAAT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BAAT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J101384 Promoter 0.8 EPDnew 250.7 +0.4 375 0.1 HOMEZ FOXA2 RXRA RARA ZBTB33 JUND HNF4A NR2F6 REST MAX BAAT FYTTD1P1 lnc-MRPL50-1 PLPPR1
GH09J101383 Promoter 0.6 EPDnew 250.7 +1.8 1816 0.1 YY1 REST TAF1 CREB1 BAAT FYTTD1P1 lnc-MRPL50-1 PLPPR1
GH09J101387 Enhancer 1 Ensembl ENCODE 15.3 -2.7 -2738 1.4 SSRP1 ZMYM3 ATF2 KLF9 CEBPA CHD4 REST FOXA1 KLF11 HOMEZ BAAT ENSG00000230328 MRPL50
GH09J101430 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.6 -56.0 -55988 20.9 ZNF654 ZNF600 SSRP1 ZMYM3 KLF9 CEBPA ATF3 NFIC POLR2A CHD4 ALDOB HSALNG0073314 LOC105376184 ZNF189 PGAP4 RNF20 MRPL50 BAAT ENSG00000270982 HSALNG0073313
GH09J101353 Enhancer 1.1 Ensembl ENCODE 11.4 +30.7 30742 3 SSRP1 CEBPA ATF3 CHD4 YY1 KLF11 HOMEZ FOXA2 KDM6A SMAD4 BAAT TRMT112P4 ENSG00000230328 lnc-BAAT-1 ACNATP PLPPR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAAT on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAAT

Top Transcription factor binding sites by QIAGEN in the BAAT gene promoter:
  • CREB
  • deltaCREB
  • Egr-3

Genomic Locations for BAAT Gene

Latest Assembly
chr9:101,354,182-101,385,400
(GRCh38/hg38)
Size:
31,219 bases
Orientation:
Minus strand

Previous Assembly
chr9:104,122,699-104,147,288
(GRCh37/hg19 by Entrez Gene)
Size:
24,590 bases
Orientation:
Minus strand

chr9:104,122,699-104,145,801
(GRCh37/hg19 by Ensembl)
Size:
23,103 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr9(ALT_REF_LOCI_1):421,209-432,266 (-)

Genomic View for BAAT Gene

Genes around BAAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAAT Gene

Proteins for BAAT Gene

  • Protein details for BAAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14032-BAAT_HUMAN
    Recommended name:
    Bile acid-CoA:amino acid N-acyltransferase
    Protein Accession:
    Q14032
    Secondary Accessions:
    • Q3B7W9
    • Q96L31

    Protein attributes for BAAT Gene

    Size:
    418 amino acids
    Molecular mass:
    46299 Da
    Quaternary structure:
    • Monomer.

neXtProt entry for BAAT Gene

Post-translational modifications for BAAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BAAT Gene

No data available for DME Specific Peptides for BAAT Gene

Domains & Families for BAAT Gene

Gene Families for BAAT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BAAT Gene

GenScript: Design optimal peptide antigens:
  • Long-chain fatty-acyl-CoA hydrolase (BAAT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14032

UniProtKB/Swiss-Prot:

BAAT_HUMAN :
  • Belongs to the C/M/P thioester hydrolase family.
Family:
  • Belongs to the C/M/P thioester hydrolase family.
genes like me logo Genes that share domains with BAAT: view

Function for BAAT Gene

Molecular function for BAAT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the amidation of bile acids (BAs) with the amino acids taurine and glycine (PubMed:12810727, PubMed:8034703, PubMed:2037576, PubMed:12239217). More than 95% of the BAs are N-acyl amidates with glycine and taurine (PubMed:8034703). Amidation of BAs in the liver with glycine or taurine prior to their excretion into bile is an important biochemical event in bile acid metabolism (PubMed:12810727). This conjugation (or amidation) plays several important biological roles in that it promotes the secretion of BAs and cholesterol into bile and increases the detergent properties of BAs in the intestine, which facilitates lipid and vitamin absorption (PubMed:12810727). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids (PubMed:12810727, PubMed:8034703, PubMed:12239217). In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to the free fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs (PubMed:12810727).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=choloyl-CoA + glycine = CoA + glycocholate + H(+); Xref=Rhea:RHEA:14001, ChEBI:CHEBI:15378, ChEBI:CHEBI:29746, ChEBI:CHEBI:57287, ChEBI:CHEBI:57305, ChEBI:CHEBI:57373; EC=2.3.1.65; Evidence={ECO:0000269|PubMed:12239217, ECO:0000269|PubMed:12810727, ECO:0000269|PubMed:2037576, ECO:0000269|PubMed:8034703};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate; Xref=Rhea:RHEA:16645, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=3.1.2.2; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=choloyl-CoA + H2O = cholate + CoA + H(+); Xref=Rhea:RHEA:14541, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29747, ChEBI:CHEBI:57287, ChEBI:CHEBI:57373; EC=3.1.2.27; Evidence={ECO:0000269|PubMed:12239217, ECO:0000269|PubMed:12810727, ECO:0000269|PubMed:8034703};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=chenodeoxycholoyl-CoA + H2O = chenodeoxycholate + CoA + H(+); Xref=Rhea:RHEA:31511, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:36234, ChEBI:CHEBI:57287, ChEBI:CHEBI:62989; EC=3.1.2.27; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + H2O = CoA + eicosanoate + H(+); Xref=Rhea:RHEA:40147, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32360, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + octadecanoyl-CoA = CoA + H(+) + octadecanoate; Xref=Rhea:RHEA:30139, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=docosanoyl-CoA + H2O = CoA + docosanoate + H(+); Xref=Rhea:RHEA:40783, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:23858, ChEBI:CHEBI:57287, ChEBI:CHEBI:65059; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + tetracosanoyl-CoA = CoA + H(+) + tetracosanoate; Xref=Rhea:RHEA:40787, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:31014, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + hexacosanoyl-CoA = CoA + H(+) + hexacosanoate; Xref=Rhea:RHEA:40791, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:31013, ChEBI:CHEBI:57287, ChEBI:CHEBI:64868; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-CoA + H2O = CoA + dodecanoate + H(+); Xref=Rhea:RHEA:30135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + tetradecanoyl-CoA = CoA + H(+) + tetradecanoate; Xref=Rhea:RHEA:40119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=choloyl-CoA + taurine = CoA + H(+) + taurocholate; Xref=Rhea:RHEA:47100, ChEBI:CHEBI:15378, ChEBI:CHEBI:36257, ChEBI:CHEBI:57287, ChEBI:CHEBI:57373, ChEBI:CHEBI:507393; Evidence={ECO:0000269|PubMed:12810727, ECO:0000269|PubMed:8034703};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=chenodeoxycholoyl-CoA + glycine = CoA + glycochenodeoxycholate + H(+); Xref=Rhea:RHEA:49788, ChEBI:CHEBI:15378, ChEBI:CHEBI:36252, ChEBI:CHEBI:57287, ChEBI:CHEBI:57305, ChEBI:CHEBI:62989; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=chenodeoxycholoyl-CoA + taurine = CoA + H(+) + taurochenodeoxycholate; Xref=Rhea:RHEA:49784, ChEBI:CHEBI:9407, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:62989, ChEBI:CHEBI:507393; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + glycine = CoA + H(+) + N-eicosanoylglycinate; Xref=Rhea:RHEA:49792, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57305, ChEBI:CHEBI:57380, ChEBI:CHEBI:87391; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=glycine + hexacosanoyl-CoA = CoA + H(+) + N-hexacosanoylglycine; Xref=Rhea:RHEA:49772, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57305, ChEBI:CHEBI:64868, ChEBI:CHEBI:87414; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=docosanoyl-CoA + glycine = CoA + H(+) + N-docosanoylglycine; Xref=Rhea:RHEA:49780, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57305, ChEBI:CHEBI:65059, ChEBI:CHEBI:87410; Evidence={ECO:0000269|PubMed:12810727};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.1 mM for taurine toward choloyl-CoA {ECO:0000269|PubMed:2037576}; KM=1.8 mM for taurine toward choloyl-CoA {ECO:0000269|PubMed:8034703}; KM=5.6 mM for glycine toward choloyl-CoA {ECO:0000269|PubMed:8034703}; KM=5.8 mM for glycine toward choloyl-CoA {ECO:0000269|PubMed:2037576}; KM=2.2 mM for 2-fluoro-beta-alanine toward choloyl-CoA {ECO:0000269|PubMed:2037576}; KM=19.3 uM for glycine toward arachidoyl-CoA {ECO:0000269|PubMed:12810727}; KM=50.02 uM for choloyl-CoA (acyl-CoA thioesterase activity) {ECO:0000269|PubMed:12239217}; Vmax=0.33 umol/min/mg enzyme with taurine as substrate for acyltransferase activity {ECO:0000269|PubMed:2037576}; Vmax=0.19 umol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferase activity {ECO:0000269|PubMed:2037576}; Vmax=0.77 umol/min/mg enzyme with glycine as substrate for acyltransferase activity {ECO:0000269|PubMed:2037576}; Vmax=223 nmol/min/mg enzyme with arachidoyl-CoA as substrate for acyl-CoA thioesterase activity {ECO:0000269|PubMed:12810727}; Vmax=1.48 umol/min/ug enzyme for acyl-CoA thioesterase activity {ECO:0000269|PubMed:12239217};
GENATLAS Biochemistry:
bile acid-CoA:aminoacid N acetyltransferase,liver specific

Enzyme Numbers (IUBMB) for BAAT Gene

Phenotypes From GWAS Catalog for BAAT Gene

Gene Ontology (GO) - Molecular Function for BAAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0016290 palmitoyl-CoA hydrolase activity IEA --
GO:0016410 N-acyltransferase activity IDA 12239217
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups TAS --
genes like me logo Genes that share ontologies with BAAT: view
genes like me logo Genes that share phenotypes with BAAT: view

Human Phenotype Ontology for BAAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAAT

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for BAAT Gene

Localization for BAAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAAT Gene

Cytoplasm, cytosol. Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAAT gene
Compartment Confidence
peroxisome 5
cytosol 5
cytoskeleton 2
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BAAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IBA,IDA 17256745
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BAAT: view

Pathways & Interactions for BAAT Gene

genes like me logo Genes that share pathways with BAAT: view

Gene Ontology (GO) - Biological Process for BAAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0002152 bile acid conjugation IDA 2037576
GO:0006544 glycine metabolic process IDA 8034703
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
genes like me logo Genes that share ontologies with BAAT: view

No data available for SIGNOR curated interactions for BAAT Gene

Drugs & Compounds for BAAT Gene

(17) Drugs for BAAT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Taurine Approved Nutra Enzyme, substrate Non-selective, endogenous glycine receptor partial agonist 51
Glycine Approved, Vet_approved Nutra Target, substrate 203
Gamolenic acid Approved, Investigational Pharma 0
linoleic acid Approved, Experimental Pharma 0
oleic acid Approved, Investigational, Vet_approved Pharma 0

(44) Additional Compounds for BAAT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
  • Dodecenoyl-CoA
  • Dodecenoyl+2-dodecenoyl, (e)-isomer
  • Dodecenoyl-coenzyme A
  • Dodecenoyl+2-dodecenoyl
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with BAAT: view

Transcripts for BAAT Gene

mRNA/cDNA for BAAT Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BAAT

Alternative Splicing Database (ASD) splice patterns (SP) for BAAT Gene

No ASD Table

Relevant External Links for BAAT Gene

GeneLoc Exon Structure for
BAAT

Expression for BAAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BAAT Gene

This gene is overexpressed in Liver (x50.2).

Protein differential expression in normal tissues from HIPED for BAAT Gene

This gene is overexpressed in Liver (43.3), Liver, secretome (18.5), and Gallbladder (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAAT Gene



Protein tissue co-expression partners for BAAT Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAAT

SOURCE GeneReport for Unigene cluster for BAAT Gene:

Hs.284712

mRNA Expression by UniProt/SwissProt for BAAT Gene:

Q14032-BAAT_HUMAN
Tissue specificity: Expressed in liver, gallbladder mucosa and pancreas.

Evidence on tissue expression from TISSUES for BAAT Gene

  • Liver(4.8)
  • Gall bladder(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BAAT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • skeleton
  • urinary
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Thorax:
  • chest wall
  • rib
  • rib cage
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Limb:
  • arm
  • femur
  • forearm
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • ulna
  • upper limb
General:
  • skin
genes like me logo Genes that share expression patterns with BAAT: view

Orthologs for BAAT Gene

This gene was present in the common ancestor of animals.

Orthologs for BAAT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BAAT 29 30
  • 98.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BAAT 29 30
  • 79.59 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Baat 29
  • 76 (n)
Cow
(Bos Taurus)
Mammalia BAAT 29 30
  • 75.93 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Baat 29 16 30
  • 75.68 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BAAT 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BAAT 30
  • 49 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BAAT 30
  • 51 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-89c11.2 30
  • 30 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea W03D8.8 30
  • 26 (a)
ManyToMany
K05B2.4 30
  • 25 (a)
ManyToMany
C31H5.6 30
  • 25 (a)
ManyToMany
T05E7.1 30
  • 22 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 44 (a)
ManyToMany
-- 30
  • 34 (a)
ManyToMany
-- 30
  • 34 (a)
ManyToMany
-- 30
  • 34 (a)
ManyToMany
-- 30
  • 32 (a)
ManyToMany
-- 30
  • 32 (a)
ManyToMany
-- 30
  • 31 (a)
ManyToMany
-- 30
  • 29 (a)
ManyToMany
-- 30
  • 29 (a)
ManyToMany
-- 30
  • 28 (a)
ManyToMany
Species where no ortholog for BAAT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for BAAT Gene

ENSEMBL:
Gene Tree for BAAT (if available)
TreeFam:
Gene Tree for BAAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAAT: view image
Alliance of Genome Resources:
Additional Orthologs for BAAT

Paralogs for BAAT Gene

Paralogs for BAAT Gene

(3) SIMAP similar genes for BAAT Gene using alignment to 1 proteins:

  • BAAT_HUMAN

Pseudogenes.org Pseudogenes for BAAT Gene

genes like me logo Genes that share paralogs with BAAT: view

Variants for BAAT Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAAT Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1048532 Pathogenic: BILE ACID CONJUGATION DEFECT 1 101,362,529(-) C/T
NM_001701.4(BAAT):c.1156G>A (p.Gly386Arg)
MISSENSE
1048533 Pathogenic: BILE ACID CONJUGATION DEFECT 1 101,371,199(-) T/A
NM_001701.4(BAAT):c.206A>T (p.Asp69Val)
MISSENSE
1048534 Pathogenic: BILE ACID CONJUGATION DEFECT 1 101,371,347(-) G/A
NM_001701.4(BAAT):c.58C>T (p.Arg20Ter)
NONSENSE
1048535 Pathogenic: BILE ACID CONJUGATION DEFECT 1 101,371,155(-) G/T
NM_001701.4(BAAT):c.250C>A (p.Pro84Thr)
MISSENSE
912310 Uncertain Significance: Hypercholanemia, familial 101,360,564(-) C/A
NM_001701.4(BAAT):c.*1864G>T
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BAAT Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BAAT Gene

Variant ID Type Subtype PubMed ID
esv3621249 CNV loss 21293372
nsv1037157 CNV loss 25217958
nsv509314 CNV insertion 20534489
nsv6641 CNV insertion 18451855

Variation tolerance for BAAT Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAAT Gene

Human Gene Mutation Database (HGMD)
BAAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAAT
Leiden Open Variation Database (LOVD)
BAAT

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAAT Gene

Disorders for BAAT Gene

MalaCards: The human disease database

(8) MalaCards diseases for BAAT Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypercholanemia, familial
  • fhca
bile acid conjugation defect 1
  • bacd1
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
bile acid synthesis defect, congenital, 3
  • cbas3
exhibitionism
- elite association - COSMIC cancer census association via MalaCards
Search BAAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BAAT_HUMAN
  • Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269 PubMed:12704386}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Additional Disease Information for BAAT

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BAAT: view

No data available for Genatlas for BAAT Gene

Publications for BAAT Gene

  1. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PMID: 12704386) Carlton VE … Bull LN (Nature genetics 2003) 3 4 22 72
  2. Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals. (PMID: 17495420) Tougou K … Azuma J (Drug metabolism and pharmacokinetics 2007) 3 22 40
  3. Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport. (PMID: 17256745) Pellicoro A … Faber KN (Hepatology (Baltimore, Md.) 2007) 3 22 25
  4. The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine. (PMID: 12810727) O'Byrne J … Alexson SE (The Journal of biological chemistry 2003) 3 4 22
  5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 40

Products for BAAT Gene

Sources for BAAT Gene