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BAAT Gene

protein-coding   GIFtS: 63
GCID: GC09M104122

Bile Acid CoA: Amino Acid N-Acyltransferase (Glycine N-Choloyltransferase)

(Previous name: bile acid Coenzyme A: amino acid N-acyltransferase (glycine...)
  See BAAT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bile Acid CoA: Amino Acid N-Acyltransferase (Glycine
N-Choloyltransferase)1 2
     Bile Acid-CoA:Amino Acid N-Acyltransferase2
Bile Acid Coenzyme A: Amino Acid N-Acyltransferase (Glycine
N-Choloyltransferase)1 2
     EC 2.3.1.653
Long-Chain Fatty-Acyl-CoA Hydrolase2 3     EC 3.1.2.23
BACAT2 3     Glycine N-Choloyltransferase3
BAT2 3     

External Ids:    HGNC: 9321   Entrez Gene: 5702   Ensembl: ENSG000001368817   OMIM: 6029385   UniProtKB: Q140323   

Export aliases for BAAT gene to outside databases

Previous GC identifers: GC09M094924 GC09M095867 GC09M097581 GC09M099503 GC09M099502 GC09M101202 GC09M103162 GC09M073722


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (glycine N-choloyltransferase)) is a protein-coding gene. Diseases associated with BAAT include hypercholanemia, familial, and baat-related familial hypercholanemia. GO annotations related to this gene include palmitoyl-CoA hydrolase activity and receptor binding. An important paralog of this gene is ACOT6.

UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032
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

Gene Wiki entry for BAAT Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  NT_187578.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the BAAT gene promoter:
         Egr-3   CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBAAT promoter sequence
   Search Chromatin IP Primers for BAAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BAAT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
BAAT gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M104122:  view genomic region     (about GC identifiers)

Start:
104,122,699 bp from pter      End:
104,147,287 bp from pter
Size:
24,589 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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
Secondary accessions: Q3B7W9 Q96L31

Explore the universe of human proteins at neXtProt for BAAT: NX_Q14032

Explore proteomics data for BAAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BAAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001121082.1  NP_001692.1  

    ENSEMBL proteins: 
     ENSP00000378491   ENSP00000259407  
    Reactome Protein details: Q14032

    BAAT Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR006862 Thio_Ohase/aa_AcTrfase
     IPR014940 BAAT_C
     IPR016662 Acyl-CoA_thioEstase_long-chain

    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


    Find genes that share domains with BAAT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BAAT_HUMAN, Q14032
    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;

         Genatlas biochemistry entry for BAAT:
    bile acid-CoA

         Enzyme Numbers (IUBMB): EC 3.1.2.21 EC 2.3.1.651

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI--
    GO:0016290palmitoyl-CoA hydrolase activity IEA--
    GO:0016410N-acyltransferase activity IDA12239217
    GO:0016790thiolester hydrolase activity ----
    GO:0047963glycine N-choloyltransferase activity IDA12810727
         
    Find genes that share ontologies with BAAT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BAAT:
     Decreased Hepatitis C virus re 

    Animal Models:
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    miRTarBase miRNAs that target BAAT:
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    4 qRT-PCR Assays for microRNAs that regulate BAAT:
    hsa-miR-3149 hsa-miR-548p hsa-miR-4311 hsa-miR-3662
    SwitchGear 3'UTR luciferase reporter plasmidBAAT 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BAAT_HUMAN, Q14032: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    peroxisome4
    cytoskeleton2
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005777peroxisome IDA17256745
    GO:0005782peroxisomal matrix TAS--
    GO:0005829cytosol TAS--

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    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BAAT About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Synthesis of bile acids and bile salts
    Synthesis of bile acids and bile salts0.88
    bile acid biosynthesis, neutral pathway0.48
    Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol0.88
    Recycling of bile acids and salts0.00
    Bile acid and bile salt metabolism0.73
    Primary bile acid biosynthesis0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    metapathway biotransformation0.42
    4Biosynthesis of unsaturated fatty acids
    Biosynthesis of unsaturated fatty acids0.38
    5Taurine and hypotaurine metabolism
    Taurine and hypotaurine metabolism0.31


    Find genes that share SuperPaths with BAAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for BAAT
        bile acid biosynthesis, neutral pathway
    Drug Induction of Bile Acid Pathway
    metapathway biotransformation


    2 Reactome Pathways for BAAT
        Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
    Recycling of bile acids and salts


    Selected Kegg Pathways  (Kegg details for BAAT) (see all 6):
        Primary bile acid biosynthesis
    Taurine and hypotaurine metabolism
    Biosynthesis of unsaturated fatty acids
    Metabolic pathways
    Peroxisome

        Pathway & Disease-focused RT2 Profiler PCR Array including BAAT: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BAAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for BAAT (Q140323 ENSP000002594074) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC7A11Q9UPY53, ENSP000002806124I2D: score=1 STRING: ENSP00000280612
    SLC7A8Q9UHI53, ENSP000003203784I2D: score=1 STRING: ENSP00000320378
    ABCB11ENSP000002638174STRING: ENSP00000263817
    CSADENSP000002670854STRING: ENSP00000267085
    GAD1ENSP000003509284STRING: ENSP00000350928
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0002152bile acid conjugation IDA12810727
    GO:0006544glycine metabolic process IDA8034703
    GO:0006631fatty acid metabolic process IEA--
    GO:0006637acyl-CoA metabolic process IDA12810727

    Find genes that share ontologies with BAAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BAAT

    Selected HMDB Compounds for BAAT (see all 74)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    11'-Carboxy-alpha-chromanol2,5,7,8-Tetramethyl-2-(4',8'-dimethyl-11'-carboxy-undecyl)-6-chromanol;RRR-11'-carboxy-alpha-chromanol;2-(11-carboxy-4,8-dimethylundecyl)-6-hydroxy-2,5,7,8-tetramethylchroman;11'-carboxy-alpha-tocopherol ----
    11'-Carboxy-alpha-tocotrienolalpha-CDMD(en)(2)HC;2-(10-carboxy-4,8-dimethyl-(3E,7E)-decadienyl)-6-hydroxy-2,5,7,8-tetramethylchroman;alpha-CDMD(en)(,2)HC ----
    11'-Carboxy-gama-chromanol2,7,8-trimethyl-2-(11'-carboxy-4',8'-dimethylundecyl)-6-chromanol;2,7,8-trimethyl-2-(11'-carboxy-4',8'-dimethylundecyl)-6-hydroxychroman;RRR-11'-carboxy-gama-chromanol;11'-Carboxy-gama-tocopherol ----
    11'-carboxy-gama-tocotrienolgama-CDMD(en)(2)HC;carboxydimethyldecadienyl hydroxychroman;2-(10-carboxy-4,8-dimethyl-(3E,7E)-decadienyl)-6-hydroxy-2,7,8-trimethylchroman ----
    13'-carboxy-alpha-tocotrienol13AaTE ----

    1 DrugBank Compound for BAAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17379925 16931649 17256745 17416343

    1 Novoseek inferred chemical compound relationship for BAAT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    taurine 79.1 12 1756615 (2), 17256745 (1), 8445347 (1), 8938178 (1) (see all 8)



    Find genes that share compounds with BAAT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BAAT gene (2 alternative transcripts): 
    NM_001127610.1  NM_001701.3  

    Unigene Cluster for BAAT:

    Bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)
    Hs.284712  [show with all ESTs]
    Unigene Representative Sequence: NM_001701
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000395051 ENST00000259407(uc010mtd.3 uc004bbd.4)
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    SwitchGear 3'UTR luciferase reporter plasmidBAAT 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat BAAT

    Additional mRNA sequence: 

    AK315347.1 BC009567.1 BC039200.1 BC107424.1 CR541918.1 L34081.1 

    4 DOTS entries:

    DT.405378  DT.92463991  DT.121206343  DT.100783415 

    Selected AceView cDNA sequences (see all 53):

    CR541918 CB161998 BM052974 BX107922 H91396 L34081 CB154124 AA778222 
    NM_001701 BQ681322 R98624 BG616473 BX643323 BC009567 CB164163 BG568403 
    CB164511 BG617512 BG616763 CB154234 BG618661 BM052699 BG617062 AI033825 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BAAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCAATTAA
    BAAT Expression
    About this image


    BAAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    BAAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BAAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.284712

    UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032
    Tissue specificity: Expressed in liver, gallbladder mucosa and pancreas

        Pathway & Disease-focused RT2 Profiler PCR Array including BAAT: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat BAAT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BAAT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BAAT gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Baat1 , 5 bile acid-Coenzyme A: amino acid N-acyltransferase1, 5 75.68(n)1
    69.38(a)1
      4 (26.51 cM)5
    120121  NM_007519.31  NP_031545.21 
     494894225 
    chicken
    (Gallus gallus)
    Aves BAAT6
    bile acid CoA: amino acid N-acyltransferase (glyci...
    49(a)
    1 ↔ 1
    5(471495-473922)
    lizard
    (Anolis carolinensis)
    Reptilia BAAT6
    bile acid CoA: amino acid N-acyltransferase (glyci...
    51(a)
    1 ↔ 1
    GL343235.1(321989-330027)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkeyp-89c11.26
    si:dkeyp-89c11.2
    30(a)
    many ↔ many
    4(24694234-24707867) ENSDARG00000089159
    worm
    (Caenorhabditis elegans)
    Secernentea W03D8.86
    K05B2.46
    (see all 4)
    Protein K05B2.4 (K05B2.4) mRNA, complete cds
    (see all 4)
    26(a)
    25(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    I(2791689-2794895) WBGene00020989
    X(4919020-4920988) WBGene00019404


    ENSEMBL Gene Tree for BAAT (if available)
    TreeFam Gene Tree for BAAT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BAAT gene
    ACOT62  ACOT42  ACOT12  ACOT22  
    3 SIMAP similar genes for BAAT using alignment to 1 protein entry:     BAAT_HUMAN:
    ACOT4    ACOT2    ACOT1

    Find genes that share paralogs with BAAT           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for BAAT
    PGOHUM00000248227 PGOHUM00000236286


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for BAAT (see all 515)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289375791,2,,4
    CFamilial hypercholanemia (FHCA)4 pathogenic1104146866(-) ACCCCA/GTGGGT 4 M V mis1 ese30--------
    rs341559901,2
    C--73741899(+) TGCCAT/-GTTGA 2 -- int11Minor allele frequency- -:0.00CSA 2
    rs665912981,2
    C--104129399(+) AAAAG-/AAAAAA 2 -- int10--------
    rs113493751,2
    C,F--104134577(+) AAGTTA/-AAAAA 2 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs58994391,2
    C--104134905(+) TTTTT-/T/TT  
            
    GGTCT
    2 -- int11NA 2
    rs1822424681,2
    --104135766(+) CCTTTC/TCAGAG 2 -- ds50010--------
    rs1844256511,2
    --104135774(+) GAGGAA/GAATAC 2 -- ds50010--------
    rs101194991,2
    C,F,H--104135779(+) AAATAC/TGCTAC 2 -- ds50019Minor allele frequency- T:0.03NS EA CSA WA 1148
    rs1392631311,2
    C--104135841(+) TTCAGA/GGCCAG 2 -- ds50010--------
    rs1121544911,2
    C,F--104135963(+) CTTCAA/GGTATG 2 -- ds50012Minor allele frequency- G:0.02NA 122

    HapMap Linkage Disequilibrium report for BAAT (104122699 - 104147287 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BAAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509314CNV Insertion20534489
    nsv6641CNV Insertion18451855

    Human Gene Mutation Database (HGMD): BAAT
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BAAT
    DNA2.0 Custom Variant and Variant Library Synthesis for BAAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602938   
    OMIM disorders: 607748  
    UniProtKB/Swiss-Prot: BAAT_HUMAN, Q14032
  • Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid
    concentrations, itching, and fat malabsorption. Note=The disease may be caused by mutations affecting distinct
    genetic loci, including the gene represented in this entry

  • 2 diseases for BAAT:    
    About MalaCards
    hypercholanemia, familial    baat-related familial hypercholanemia


    Find genes that share disorders with BAAT           About GenesLikeMe

    Genetic Association Database (GAD): BAAT
    Human Genome Epidemiology (HuGE) Navigator: BAAT (3 documents)

    Export disorders for BAAT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BAAT gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with BAAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 7, 9 Pellicoro A....Faber K.N. (Hepatology 2007)
    2. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. (PubMed id 12704386)1, 2, 9 Carlton V.E.H.... Bull L.N. (Nat. Genet. 2003)
    3. The human bile acid-CoA:amino acid N-acyltransferase functions in the conjugation of fatty acids to glycine. (PubMed id 12810727)1, 2, 9 O'Byrne J.... Alexson S.E. (J. Biol. Chem. 2003)
    4. Genetic polymorphism of bile acid CoA: amino acid N-acyltransferase in Japanese individuals. (PubMed id 17495420)1, 4, 9 Tougou K....Azuma J. (Drug Metab. Pharmacokinet. 2007)
    5. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Conserved residues in the putative catalytic triad of human bile acid Coenzyme A:amino acid N-acyltransferase. (PubMed id 12239217)1, 2 Sfakianos M.K.... Barnes S. (J. Biol. Chem. 2002)
    9. 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)1, 2 Falany C.N.... Diasio R.B. (J. Biol. Chem. 1994)
    10. Purification and characterization of bile acid-CoA:amino acid N- acyltransferase from human liver. (PubMed id 2037576)1, 2 Johnson M.R.... Diasio R.B. (J. Biol. Chem. 1991)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 570 HGNC: 932 AceView: BAAT Ensembl:ENSG00000136881 euGenes: HUgn570
    ECgene: BAAT Kegg: 570 H-InvDB: BAAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BAAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/500369/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BAAT gene:
    Search GeneIP for patents involving BAAT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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