Human Gene BAAT (ENST00000259407.7) from GENCODE V44
Description: Homo sapiens bile acid-CoA:amino acid N-acyltransferase (BAAT), transcript variant 1, mRNA. (from RefSeq NM_001701) RefSeq Summary (NM_001701): 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]. Gencode Transcript: ENST00000259407.7 Gencode Gene: ENSG00000136881.12 Transcript (Including UTRs) Position: hg38 chr9:101,360,417-101,385,006 Size: 24,590 Total Exon Count: 4 Strand: - Coding Region Position: hg38 chr9:101,362,428-101,371,404 Size: 8,977 Coding Exon Count: 3
ID:BAAT_HUMAN DESCRIPTION: RecName: Full=Bile acid-CoA:amino acid N-acyltransferase; Short=BACAT; Short=BAT; EC=2.3.1.65; AltName: Full=Glycine N-choloyltransferase; AltName: Full=Long-chain fatty-acyl-CoA hydrolase; EC=3.1.2.2; 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. CATALYTIC ACTIVITY: Choloyl-CoA + glycine = CoA + glycocholate. CATALYTIC ACTIVITY: Palmitoyl-CoA + H(2)O = CoA + palmitate. BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=1.1 mM for taurine toward choloyl-CoA; KM=2.2 mM for 2-fluoro-beta-alanine toward choloyl-CoA; KM=5.8 mM for glycine toward choloyl-CoA; KM=19.3 uM for arachidoyl-CoA; Vmax=0.33 umol/min/mg enzyme with taurine as substrate for acyltransferase activity; Vmax=0.19 umol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferase activity; Vmax=0.77 umol/min/mg enzyme with glycine as substrate for acyltransferase activity; Vmax=223 nmol/min/mg enzyme with arachidoyl-CoA as substrate for acyl-CoA thioesterase activity; SUBUNIT: Monomer. SUBCELLULAR LOCATION: Cytoplasm. TISSUE SPECIFICITY: Expressed in liver, gallbladder mucosa and pancreas. DISEASE: Defects in BAAT are involved in familial hypercholanemia (FHCA) [MIM:607748]. FHCA is a disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. 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. SIMILARITY: Belongs to the C/M/P thioester hydrolase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BAAT";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF08840 - BAAT / Acyl-CoA thioester hydrolase C terminal PF04775 - Acyl-CoA thioester hydrolase/BAAT N-terminal region
ModBase Predicted Comparative 3D Structure on Q14032
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
KJ896483 - Synthetic construct Homo sapiens clone ccsbBroadEn_05877 BAAT gene, encodes complete protein. KR710317 - Synthetic construct Homo sapiens clone CCSBHm_00011464 BAAT (BAAT) mRNA, encodes complete protein. BC039200 - Homo sapiens cDNA clone IMAGE:4767710, containing frame-shift errors. BC009567 - Homo sapiens bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase), mRNA (cDNA clone MGC:12333 IMAGE:4071788), complete cds. BC107424 - Homo sapiens bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase), mRNA (cDNA clone MGC:104432 IMAGE:4766834), complete cds. L34081 - Human bile acid CoA: Amino acid N-acyltransferase mRNA, complete cds. JD091108 - Sequence 72132 from Patent EP1572962. JD547974 - Sequence 528998 from Patent EP1572962. JD314294 - Sequence 295318 from Patent EP1572962. JD262617 - Sequence 243641 from Patent EP1572962. AK315347 - Homo sapiens cDNA, FLJ96391. DQ891910 - Synthetic construct clone IMAGE:100004540; FLH181328.01X; RZPDo839C03136D bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT) gene, encodes complete protein. DQ895095 - Synthetic construct Homo sapiens clone IMAGE:100009555; FLH181324.01L; RZPDo839C03135D bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT) gene, encodes complete protein. CR541918 - Homo sapiens full open reading frame cDNA clone RZPDo834H0733D for gene BAAT, bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase); complete cds, without stopcodon. JD133701 - Sequence 114725 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00120 - Primary bile acid biosynthesis hsa00430 - Taurine and hypotaurine metabolism hsa01040 - Biosynthesis of unsaturated fatty acids hsa01100 - Metabolic pathways hsa04146 - Peroxisome
BioCyc Knowledge Library PWY-6061 - bile acid biosynthesis, neutral pathway
BioCarta from NCI Cancer Genome Anatomy Project h_cb1rPathway - Metabolism of Anandamide, an Endogenous Cannabinoid
Reactome (by CSHL, EBI, and GO)
Protein Q14032 (Reactome details) participates in the following event(s):
R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1 R-HSA-159431 Cytosolic chenodeoxycholoyl-CoA or choloyl-CoA are conjugated with glycine or taurine R-HSA-192312 Choloyl CoA reacts with glycine or taurine to form glycocholate or taurocholate R-HSA-193491 Chenodeoxycholoyl CoA reacts with glycine or taurine to form glycochenodeoxycholate or taurochenodeoxycholate R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex) R-HSA-9033241 Peroxisomal protein import R-HSA-159418 Recycling of bile acids and salts R-HSA-193368 Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol R-HSA-392499 Metabolism of proteins R-HSA-194068 Bile acid and bile salt metabolism R-HSA-192105 Synthesis of bile acids and bile salts R-HSA-8957322 Metabolism of steroids R-HSA-556833 Metabolism of lipids R-HSA-1430728 Metabolism
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