Free for academic non-profit institutions. Other users need a Commercial license

Aliases for BAAT Gene

Aliases for BAAT Gene

  • Bile Acid-CoA:Amino Acid N-Acyltransferase 2 3 5
  • 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
  • BACAT 3 4
  • BAT 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
  • Bile Acid CoA:Amino Acid N-Acyltransferase 3
  • EC 2.3.1.65 4
  • EC 3.1.2.2 4

External Ids for BAAT Gene

Previous GeneCards Identifiers for BAAT Gene

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

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 Hemolytic Uremic Syndrome, Atypical 1. Among its related pathways are Bile secretion and Taurine and hypotaurine metabolism. GO annotations related to this gene include receptor binding and palmitoyl-CoA hydrolase activity. An important paralog of this gene is ACOT2.

UniProtKB/Swiss-Prot for BAAT Gene

  • Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. 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.

Gene Wiki entry for BAAT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAAT Gene

Genomics for BAAT Gene

Regulatory Elements for BAAT Gene

Enhancers for BAAT Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BAAT on UCSC Golden Path with GeneCards custom track

Genomic Location for BAAT Gene

Chromosome:
9
Start:
101,360,417 bp from pter
End:
101,385,005 bp from pter
Size:
24,589 bases
Orientation:
Minus strand

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.
    Miscellaneous:
    • In human, more than 95% of the biliary bile acids are N-acyl amidates with glycine and taurine. In other mammalian species large differences are observed in the relative amounts of taurine- and glycine-conjugated bile acids formed in bile.

neXtProt entry for BAAT Gene

Proteomics data for BAAT Gene at MOPED

Post-translational modifications for BAAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BAAT Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BAAT Gene

Domains & Families for BAAT Gene

Protein Domains for BAAT Gene

Suggested Antigen Peptide Sequences for BAAT Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for BAAT Gene

Function for BAAT Gene

Molecular function for BAAT Gene

GENATLAS Biochemistry:
bile acid-CoA
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.1 mM for taurine toward choloyl-CoA {ECO:0000269 PubMed:2037576, ECO:0000269 PubMed:8034703}; KM=2.2 mM for 2-fluoro-beta-alanine toward choloyl-CoA {ECO:0000269 PubMed:2037576, ECO:0000269 PubMed:8034703}; KM=5.8 mM for glycine toward choloyl-CoA {ECO:0000269 PubMed:2037576, ECO:0000269 PubMed:8034703}; KM=19.3 uM for arachidoyl-CoA {ECO:0000269 PubMed:8034703}; Vmax=0.33 umol/min/mg enzyme with taurine as substrate for acyltransferase activity {ECO:0000269 PubMed:2037576, ECO:0000269 PubMed:8034703}; Vmax=0.19 umol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferase activity {ECO:0000269 PubMed:8034703}; Vmax=0.77 umol/min/mg enzyme with glycine as substrate for acyltransferase activity {ECO:0000269 PubMed:2037576, ECO:0000269 PubMed:8034703}; Vmax=223 nmol/min/mg enzyme with arachidoyl-CoA as substrate for acyl-CoA thioesterase activity {ECO:0000269 PubMed:8034703};
UniProtKB/Swiss-Prot CatalyticActivity:
Choloyl-CoA + glycine = CoA + glycocholate.
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + H(2)O = CoA + palmitate.
UniProtKB/Swiss-Prot Function:
Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in the conjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bile canaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a first step the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bile acids deriving from the cholesterol pathway), or cytoplasmic at the endoplasmic reticulum (secondary bile acids). May catalyze the conjugation of primary or secondary bile acids, or both. The conjugation increases the detergent properties of bile acids in the intestine, which facilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated by bacteria in the intestine and are recycled back to the liver for reconjugation (secondary bile acids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fatty acids. 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.

Enzyme Numbers (IUBMB) for BAAT Gene

Gene Ontology (GO) - Molecular Function for BAAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 20178365
GO:0016746 transferase activity, transferring acyl groups TAS --
GO:0052816 long-chain acyl-CoA hydrolase activity IDA 12810727
GO:0052817 very long chain acyl-CoA hydrolase activity IDA 12810727
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

Animal Model Products

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BAAT Gene COMPARTMENTS Subcellular localization image for BAAT gene
Compartment Confidence
cytosol 5
peroxisome 5
cytoskeleton 2
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for BAAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,IDA 17256745
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:0006699 bile acid biosynthetic process TAS --
GO:0008206 bile acid metabolic process IEA,TAS --
GO:0019530 taurine metabolic process IDA 8034703
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 197
alpha-linolenic acid Approved Nutra Full agonist, Agonist 0
Gamma-Homolinolenic acid Approved Nutra 0
Icosapent Approved Nutra 0
Taurine Experimental Nutra Non-selective, endogenous glycine receptor partial agonist 26

(46) 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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • 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

Unigene Clusters for BAAT Gene

Bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase):
Representative Sequences:

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

No ASD Table

Relevant External Links for BAAT Gene

GeneLoc Exon Structure for
BAAT
ECgene alternative splicing isoforms for
BAAT

Expression for BAAT Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for BAAT Gene



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.
genes like me logo Genes that share expression patterns with BAAT: view

Protein tissue co-expression partners for BAAT Gene

- Elite partner

Primer Products

Orthologs for BAAT Gene

This gene was present in the common ancestor of animals.

Orthologs for BAAT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BAAT 35
  • 75.93 (n)
  • 60.68 (a)
BAAT 36
  • 52 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BAAT 35
  • 79.59 (n)
  • 72.49 (a)
BAAT 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Baat 35
  • 75.68 (n)
  • 69.38 (a)
Baat 16
Baat 36
  • 69 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BAAT 35
  • 98.26 (n)
  • 96.76 (a)
BAAT 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baat 35
  • 76 (n)
  • 69.86 (a)
oppossum
(Monodelphis domestica)
Mammalia BAAT 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAAT 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAAT 36
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-89c11.2 36
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C31H5.6 36
  • 25 (a)
ManyToMany
K05B2.4 36
  • 25 (a)
ManyToMany
T05E7.1 36
  • 22 (a)
ManyToMany
W03D8.8 36
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
-- 36
  • 31 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 34 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
Species with no ortholog for BAAT:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for BAAT Gene

Paralogs for BAAT Gene

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

Pseudogenes.org Pseudogenes for BAAT Gene

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

Variants for BAAT Gene

Sequence variations from dbSNP and Humsavar for BAAT Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs28937579 Familial hypercholanemia (FHCA) 101,371,179(-) ACCCC(A/G)TGGGT reference, missense
rs1572983 - 101,371,346(+) TAGCT(C/T)GGATA reference, missense
rs1057380 -- 101,362,266(-) TTATA(C/T)TGCAT utr-variant-3-prime
rs1057381 -- 101,362,233(-) TGGTG(A/G)ATAAA utr-variant-3-prime
rs1135370 -- 101,362,226(-) TAAAT(C/T)ATAAA utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv6641 CNV Insertion 18451855
nsv509314 CNV Insertion 20534489

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)

Relevant External Links for BAAT Gene

Human Gene Mutation Database (HGMD)
BAAT

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

Disorders for BAAT Gene

MalaCards: The human disease database

(3) MalaCards diseases for BAAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and Swiss-Prot

Disorder Aliases PubMed IDs
hypercholanemia, familial
  • familial hypercholanemia
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical
baat-related familial hypercholanemia
- 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 mutations affecting distinct genetic loci, including the gene represented in this entry.

Relevant External Links for BAAT

Genetic Association Database (GAD)
BAAT
Human Genome Epidemiology (HuGE) Navigator
BAAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BAAT
genes like me logo Genes that share disorders with BAAT: view

No data available for Genatlas for BAAT Gene

Publications for BAAT Gene

  1. 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 K.N. (Hepatology 2007) 3 23 25 26
  2. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PMID: 12704386) Carlton V.E.H. … Bull L.N. (Nat. Genet. 2003) 3 4 23 67
  3. Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals. (PMID: 17495420) Tougou K. … Azuma J. (Drug Metab. Pharmacokinet. 2007) 3 23
  4. Central efferent pathways mediating skin cooling-evoked sympathetic thermogenesis in brown adipose tissue. (PMID: 16931649) Nakamura K. … Morrison S.F. (Am. J. Physiol. Regul. Integr. Comp. Physiol. 2007) 25 26
  5. Quantification and regulation of the subcellular distribution of bile acid coenzyme A:amino acid N-acyltransferase activity in rat liver. (PMID: 17379925) Styles N.A. … Falany C.N. (J. Lipid Res. 2007) 25 26

Products for BAAT Gene

Sources for BAAT Gene

Content