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Aliases & Descriptions for BAAT
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases BACAT 2 , 3 BAT 1 , 2 , 3 EC 2.3.1.65,EC 3.1.2.2 3 FLJ20300 2 MGC104432 2 OTTHUMP00000021802 2
Descriptions Glycine N-choloyltransferase 3 Long-chain fatty-acyl-CoA hydrolase 3 bile acid Coenzyme A: amino acid N-acyltransferase 2 bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) 2
Search outside databases for aliases for BAAT genePrevious GC identifers: GC09M094924 GC09M095867 GC09M097581 GC09M099503 GC09M099502 GC09M101202
Summaries for BAAT (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for BAAT : The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acidsfrom the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bileacid-amino acid conjugates. The bile acid conjugates then act as a detergent in thegastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in thisgene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the sameprotein have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032 Function : Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in theconjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bilecanaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a firststep the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bileacids 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, whichfacilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated bybacteria in the intestine and are recycled back to the liver for reconjugation (secondary bileacids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fattyacids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to thefree fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs
Gene Wiki entry for BAAT
Genomic Location for BAAT
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
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Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the BAAT gene Entrez Gene cytogenetic band: 9q22.3 Ensembl cytogenetic band: 9q31.1 HGNC cytogenetic band: 9q22.3 BAAT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure
GeneLoc location for GC09M103162:
(about GC identifiers )
Start:
103,162,890 bp from pter
End:
103,187,108 bp from pter
Size:
24,219 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000009.10 NT_008470.18 Proteins for BAAT
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032 (See
protein sequence )Recommended Name: Bile acid-CoA:amino acid N-acyltransferase Size : 418 amino acids; 46299 Da
Subunit : Monomer
Subcellular location : Cytoplasm
Miscellaneous : In humans more than 95% of the biliary bile acids are N-acyl amidates with glycineand taurine. In other mammalian species large differences are observed in the relative amounts oftaurine- and glycine-conjugated bile acids formed in bile
Secondary accessions : Q96L31
REFSEQ proteins (2 alternative transcripts):
NP_001121082.1 NP_001692.1 ENSEMBL proteins: ENSP00000259407 ENSP00000378491 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: BAAT 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for BAAT: Assays for BAAT:
Protein
Domains/ Families for BAAT(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q14032 ProtoNet protein and cluster: Q14032
UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032 Similarity : Belongs to the C/M/P thioester hydrolase family
Gene Function for BAAT
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
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Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001701 Applied Biosystems Silencer ® siRNAs for BAAT Sigma-Aldrich siRNA for BAAT Sigma-Aldrich shRNA for BAAT Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127610                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127610                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001127610  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001701 UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032 Function : Involved in bile acid metabolism. In liver hepatocytes catalyzes the second step in theconjugation of C24 bile acids (choloneates) to glycine and taurine before excretion into bilecanaliculi. The major components of bile are cholic acid and chenodeoxycholic acid. In a firststep the bile acids are converted to an acyl-CoA thioester, either in peroxisomes (primary bileacids 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, whichfacilitates lipid and fat-soluble vitamin absorption. In turn, bile acids are deconjugated bybacteria in the intestine and are recycled back to the liver for reconjugation (secondary bileacids). May also act as an acyl-CoA thioesterase that regulates intracellular levels of free fattyacids. In vitro, catalyzes the hydrolysis of long- and very long-chain saturated acyl-CoAs to thefree fatty acid and coenzyme A (CoASH), and conjugates glycine to these acyl-CoAs Catalytic activity : Choloyl-CoA + glycine = CoA + glycocholateCatalytic activity : Palmitoyl-CoA + H(2)O = CoA + palmitateBiophysicochemical properties : Kinetic parameters: KM=1.1 mM for taurine toward choloyl-CoA; KM=2.2mM for 2-fluoro-beta-alanine toward choloyl-CoA; KM=5.8 mM for glycine toward choloyl-CoA; KM=19.3uM for arachidoyl-CoA; Vmax=0.33 umol/min/mg enzyme with taurine as substrate for acyltransferaseactivity; Vmax=0.19 umol/min/mg enzyme with 2-fluoro-beta-alanine as substrate for acyltransferaseactivity; 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; Enzyme Number (IUBMB): EC 2.3.1.65,EC
Genatlas biochemistry entry for BAAT :bile acid-CoA 5/7 Gene Ontology (GO) molecular function terms (links to tree view) (see all 7
):
About this table
Pathways & Interactions for BAAT
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for BAAT (Your Favorite Gene powered by Ingenuity) 5/16 Interacting proteins for BAAT (ENSP00000259407 3 ) via UniProtKB, MINT, and/or STRING (see all 16
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
About this table
Drugs & Compounds for BAAT (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for BAAT 1 Novoseek chemical compound relationship for BAAT gene
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Transcripts for BAAT(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001701 Sigma-Aldrich siRNA for BAAT Sigma-Aldrich shRNA for BAAT Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001127610 NM_001701
REFSEQ mRNAs for BAAT gene (2 alternative transcripts): NM_001127610.1 NM_001701.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001127610 NM_001701
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127610                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_001127610                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_001127610  
Additional cDNA sequence: AK315347.1 BC009567.1 BC039200.1 BC107424.1 CR541918.1 L34081.1
3 DOTS entries : DT.405378 DT.92463991 DT.121206343
24/53 AceView cDNA sequences (see all 53
):CR541918 CB154124 L34081 AA778222 BM052974 CB161998 NM_001701 BQ681322 H91396 BX107922 BG618661 BC009567 BX951462 BG568403 AV692958 BG616473 BG617512 CB154234 BM052699 CB164511 R98624 BG617062 BX643323 BC039200
highest scoring ESTs for BAAT :L34081 BC009567 BC039200 BF126467 BG565219 BG565737 BG568403 BG616473 BG616763 BG618661
Unigene Cluster for BAAT: Bile acid Coenzyme A: amino acid N-acyltransferase (glycine N-choloyltransferase) Hs.284712 [show with all ESTs ] Unigene Representative Sequence: NM_001701 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000259407
ENST00000395051
Expression for BAAT
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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BAAT expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for BAAT 1 / 2 / 3
4 probe-sets matching BAAT gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.284712 Expression variation in blood from EXPOLDB for BAAT
UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032 Tissue specificity : Expressed in liver, gallbladder mucosa and pancreas
Orthologs for BAAT
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for BAAT gene from 4 species
About this table Species with no ortholog for BAAT ENSEMBL Gene Tree for BAAT Paralogs for BAAT (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for BAAT gene ACOT6 2 ACOT4 2 ACOT1 2 ACOT2 2
SNPs/Variants for BAAT (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for BAAT (up to first 250kb)
Disorders & Mutations for BAAT
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
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Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
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OMIM: 602938 disorders : 607748 UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032
Defects in BAAT are involved in familial hypercholanemia (FHCA) [MIM:607748]. FHCA is adisorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption
Human Gene Mutation Database : BAAT Human Genome Epidemiology Navigator: BAAT (1 document)
Medical News for BAAT (Possibly Related Articles in
Doctor's Guide )
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--
Publications for BAAT (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/26 PubMed articles for BAAT gene (see all 26
): Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PubMed id 12704386) 1, 3, 4 Carlton V.E.H.... Bull L.N. (2003) The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine. (PubMed id 12810727) 1, 3, 4 O'Byrne J.... Alexson S.E. (2003) DNA sequence and analysis of human chromosome 9. (PubMed id 15164053) 3, 4 Humphray S.J.... Dunham I. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 3, 4 Gerhard D.S....Malek J. (2004) Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase. (PubMed id 12239217) 3, 4 Sfakianos M.K.... Barnes S. (2002) Glycine and taurine conjugation of bile acids by a single enzyme. Molecular cloning and expression of human liver bile acid CoA:amino acid N-acyltransferase. (PubMed id 8034703) 3, 4 Falany C.N.... Diasio R.B. (1994) Purification and characterization of bile acid-CoA:amino acid N- acyltransferase from human liver. (PubMed id 2037576) 3, 4 Johnson M.R.... Diasio R.B. (1991) Human and rat bile acid-CoA:amino acid N-acyltransferase are liver-specific peroxisomal enzymes: implications for intracellular bile salt transport. (PubMed id 17256745) 1, 3 Pellicoro A....Faber K.N. (2007) Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals. (PubMed id 17495420) 1, 3 Tougou K....Azuma J. (2007) High-resolution mass spectrometry analysis of protein oxidations and resultant loss of function. (PubMed id 18793185) 3 Barnes S....Renfrow M.B. (2008)
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Genome Databases showing BAAT
(According to
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
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Other Databases showing BAAT
(According to HUGE )
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--
Specialized Databases showing BAAT (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
GeneReviews http://www.genetests.org/query?gene=BAAT
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-- Services for BAAT (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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