LOCUS       NM_001701               3479 bp    mRNA    linear   PRI 27-NOV-2024
DEFINITION  Homo sapiens bile acid-CoA:amino acid N-acyltransferase (BAAT),
            transcript variant 1, mRNA.
ACCESSION   NM_001701
VERSION     NM_001701.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3479)
  AUTHORS   Trammell,S.A.J., Gamon,L.F., Gotfryd,K., Michler,K.T.,
            Alrehaili,B.D., Rix,I., Knop,F.K., Gourdon,P., Lee,Y.K.,
            Davies,M.J., Gillum,M.P. and Grevengoed,T.J.
  TITLE     Identification of bile acid-CoA:amino acid N-acyltransferase as the
            hepatic N-acyl taurine synthase for polyunsaturated fatty acids
  JOURNAL   J Lipid Res 64 (9), 100361 (2023)
   PUBMED   36958721
REFERENCE   2  (bases 1 to 3479)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3479)
  AUTHORS   Kirilenko,B.M., Hagey,L.R., Barnes,S., Falany,C.N. and Hiller,M.
  TITLE     Evolutionary Analysis of Bile Acid-Conjugating Enzymes Reveals a
            Complex Duplication and Reciprocal Loss History
  JOURNAL   Genome Biol Evol 11 (11), 3256-3268 (2019)
   PUBMED   31670760
REFERENCE   4  (bases 1 to 3479)
  AUTHORS   Styles,N.A., Shonsey,E.M., Falany,J.L., Guidry,A.L., Barnes,S. and
            Falany,C.N.
  TITLE     Carboxy-terminal mutations of bile acid CoA:N-acyltransferase alter
            activity and substrate specificity
  JOURNAL   J Lipid Res 57 (7), 1133-1143 (2016)
   PUBMED   27230263
  REMARK    GeneRIF: These results indicate that even small changes in the
            carboxy terminus of BAAT can have significant effects on activity
            and substrate specificity
REFERENCE   5  (bases 1 to 3479)
  AUTHORS   Chen,R., Wang,J., Tang,S.W., Zhang,Y., Lv,X.Z., Wu,S.S., Yang,Z.R.,
            Xia,Y.Y., Chen,D.F. and Zhan,S.Y.
  TITLE     CYP7A1, BAAT and UGT1A1 polymorphisms and susceptibility to
            anti-tuberculosis drug-induced hepatotoxicity
  JOURNAL   Int J Tuberc Lung Dis 20 (6), 812-818 (2016)
   PUBMED   27155186
  REMARK    GeneRIF: BAAT polymorphisms might not be associated with
            anti-tuberculosis drug-induced hepatotoxicity in the Chinese
            population
REFERENCE   6  (bases 1 to 3479)
  AUTHORS   Solaas,K., Ulvestad,A., Soreide,O. and Kase,B.F.
  TITLE     Subcellular organization of bile acid amidation in human liver: a
            key issue in regulating the biosynthesis of bile salts
  JOURNAL   J Lipid Res 41 (7), 1154-1162 (2000)
   PUBMED   10884298
REFERENCE   7  (bases 1 to 3479)
  AUTHORS   Lench,N.J., Telford,E.A., Andersen,S.E., Moynihan,T.P.,
            Robinson,P.A. and Markham,A.F.
  TITLE     An EST and STS-based YAC contig map of human chromosome 9q22.3
  JOURNAL   Genomics 38 (2), 199-205 (1996)
   PUBMED   8954802
REFERENCE   8  (bases 1 to 3479)
  AUTHORS   Falany,C.N., Johnson,M.R., Barnes,S. and Diasio,R.B.
  TITLE     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
  JOURNAL   J Biol Chem 269 (30), 19375-19379 (1994)
   PUBMED   8034703
REFERENCE   9  (bases 1 to 3479)
  AUTHORS   Amendola,M. and Squires,J.E.
  TITLE     Pediatric Genetic Cholestatic Liver Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   36108118
REFERENCE   10 (bases 1 to 3479)
  AUTHORS   Johnson,M.R., Barnes,S., Kwakye,J.B. and Diasio,R.B.
  TITLE     Purification and characterization of bile acid-CoA:amino acid
            N-acyltransferase from human liver
  JOURNAL   J Biol Chem 266 (16), 10227-10233 (1991)
   PUBMED   2037576
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353621.19, BC009567.1,
            BC039200.1, L34081.1 and AL359893.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001701.3.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189664.71185.1, BC039200.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000259407.7/ ENSP00000259407.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL353621.19        8715-8715           c
            2-51                BC009567.1         1-50
            52-269              BC039200.1         50-267
            270-1677            L34081.1           243-1650
            1678-3479           AL359893.16        128753-130554       c
FEATURES             Location/Qualifiers
     source          1..3479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..3479
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /note="bile acid-CoA:amino acid N-acyltransferase"
                     /db_xref="GeneID:570"
                     /db_xref="HGNC:HGNC:932"
                     /db_xref="MIM:602938"
     exon            1..152
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /inference="alignment:Splign:2.1.0"
     exon            153..677
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /inference="alignment:Splign:2.1.0"
     CDS             212..1468
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /EC_number="2.3.1.65"
                     /EC_number="3.1.2.2"
                     /EC_number="3.1.2.27"
                     /note="bile acid Coenzyme A: amino acid N-acyltransferase
                     (glycine N-choloyltransferase); long-chain fatty-acyl-CoA
                     hydrolase; bile acid CoA: amino acid N-acyltransferase
                     (glycine N-choloyltransferase); choloyl-CoA hydrolase;
                     bile acid-CoA thioesterase"
                     /codon_start=1
                     /product="bile acid-CoA:amino acid N-acyltransferase"
                     /protein_id="NP_001692.1"
                     /db_xref="CCDS:CCDS6752.1"
                     /db_xref="GeneID:570"
                     /db_xref="HGNC:HGNC:932"
                     /db_xref="MIM:602938"
                     /translation="MIQLTATPVSALVDEPVHIRATGLIPFQMVSFQASLEDENGDMF
                     YSQAHYRANEFGEVDLNHASSLGGDYMGVHPMGLFWSLKPEKLLTRLLKRDVMNRPFQ
                     VQVKLYDLELIVNNKVASAPKASLTLERWYVAPGVTRIKVREGRLRGALFLPPGEGLF
                     PGVIDLFGGLGGLLEFRASLLASRGFASLALAYHNYEDLPRKPEVTDLEYFEEAANFL
                     LRHPKVFGSGVGVVSVCQGVQIGLSMAIYLKQVTATVLINGTNFPFGIPQVYHGQIHQ
                     PLPHSAQLISTNALGLLELYRTFETTQVGASQYLFPIEEAQGQFLFIVGEGDKTINSK
                     AHAEQAIGQLKRHGKNNWTLLSYPGAGHLIEPPYSPLCCASTTHDLRLHWGGEVIPHA
                     AAQEHAWKEIQRFLRKHLIPDVTSQL"
     exon            678..880
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /inference="alignment:Splign:2.1.0"
     exon            881..3479
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1663..1668
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /note="hexamer: AATAAA"
     polyA_site      1680
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /note="major polyA site"
     regulatory      3454..3459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
                     /note="hexamer: ATTAAA"
     polyA_site      3479
                     /gene="BAAT"
                     /gene_synonym="BACAT; BACD1; BAT; FHCA3; HCHO"
ORIGIN      
        1 ggcctcacgg tcctgctgat atgtgacatc acccccggag gcccagctgt aaattcctct
       61 ctttgtactc tttctcttta tttctcagac cagccgacac ttagggaaaa tagaacctac
      121 gctgaaattt tgggggcagg ttctcttgct aggttttgag gttttgctga agatattcct
      181 gaagaatcat cccaggtgcc acactaaaaa aatgatccag ttgacagcta cccctgtgag
      241 tgcacttgtt gatgagccag tgcatatccg agctacaggc ctgattccct ttcagatggt
      301 gagttttcag gcatcactgg aagatgaaaa cggagacatg ttttattctc aagcccacta
      361 tagggccaat gaattcggtg aggtggacct gaatcatgct tcttcacttg gaggggatta
      421 tatgggagtc caccccatgg gtctcttctg gtctctgaaa cctgaaaagc tattaacaag
      481 actgttgaaa agagatgtga tgaataggcc tttccaggtc caagtaaaac tttatgactt
      541 agagttaata gtgaacaata aagttgccag tgctccaaag gccagcctga ctttggagag
      601 gtggtatgtg gcacctggtg tcacacgaat taaggttcga gaaggccgcc ttcgaggagc
      661 tctctttctc cctccaggag agggtctctt cccaggggta attgatttgt ttggtggttt
      721 gggtgggctg cttgaatttc gggccagcct cctagccagt cgtggcttcg cctccttggc
      781 cttggcttac cataactatg aagacctgcc ccgcaaacca gaagtaacag atttggaata
      841 ttttgaggag gctgccaact ttctcctgag acatccaaag gtctttggct caggcgttgg
      901 ggtagtctct gtatgtcaag gagtacagat tggactatct atggctattt acctaaagca
      961 agtcacagcc acggtactta ttaatgggac caactttcct tttggcattc cacaggtata
     1021 tcatggtcag atccatcagc cccttcccca ttctgcacaa ttaatatcca ccaatgcctt
     1081 ggggttacta gagctctatc gcacttttga gacaactcaa gttggggcca gtcaatattt
     1141 gtttcctatt gaagaggccc aggggcaatt cctcttcatt gtaggagaag gtgataagac
     1201 tatcaacagc aaagcacacg ctgaacaagc cataggacag ctgaagagac atgggaagaa
     1261 caactggacc ctgctatctt accctggggc aggccacctg atagaacctc cctattctcc
     1321 tctgtgctgt gcctcaacga cccacgattt gaggttacac tggggaggag aggtgatccc
     1381 acacgcagct gcacaggaac atgcttggaa ggagatccag agatttctca ggaagcacct
     1441 cattccagat gtgaccagtc aactctaaga agactagata ttcctagaaa ataaagaagc
     1501 aaatctcttt accgggacct tctctcaatt ttcatggcgg aatgtctccc ccagctgcca
     1561 cacacacatt ttgtattaat tttaatgatt aaaaagagca tagggtaaaa acctgatatt
     1621 tcacttatac tgcataacaa gctaaccaaa ctggacatgg tgaataaatc ataaaacaaa
     1681 tcattttact tattatttac atgacttttc tttccatcag gtcttctaaa taggactgag
     1741 gtatagtaca ctggcaaaaa taagaaaagg caaacaagaa tagcaccaaa gtaacagata
     1801 taaaaccaaa taccatgtca gaaaacacta tatagtaaga atttatcaga ttagagcagc
     1861 aggagaaaat taatactaaa ttataatcat tttagtgata tttttcaact tcaccacagt
     1921 aactttgcaa catcattttt catttgtggg gtagtaaaat tcatgtcaaa aaggaaagaa
     1981 ggaatggagg aggtcagtta gttcattgca ataaattacc tcttcagttc ttaaaaacat
     2041 gcccattggc acataactga gacataataa ctaagactgg aagagccttg gtttaagtta
     2101 tgaagcaaat taaaatggaa aatacaagaa aatagaacca attaggttga aaatgcccct
     2161 tactgaaaat ctgtattaaa aataaaatta ataaaagtaa aaaataaaaa tagaaacaca
     2221 actctactag tacaggctag cctggggagt ttgataaact gagtgattgg gtcaactatc
     2281 actgtacttc cataatgaat ttcttcagtc atgttagagt agcacatgaa tgtgagctct
     2341 ataaggacag gtactatatt tccgtaagac ccaatagtta ctgtacatcc cataaataaa
     2401 aaatacttta gtttgctaac caactgaata tatgaggact gcatgtaatt caaccacatg
     2461 gttgtttgct gtacagtcct ttgcaaatat taaaaaattt tttttgctat aaggctttga
     2521 tcatatagtc ctcatagcaa cataactacc atctagcatg taccacattt tgcaagactt
     2581 taagttcaac attccaaact gccaatttgt attatgtcca aatgcagtat ccttgaggaa
     2641 tatagtgggt cagttaaata tctagagaca tacaaacatc tgctaattca tctcattgag
     2701 atggatcatt ctgatctcca tcatccaccc acttttcatc agcttctcct acttcattct
     2761 cctcatagtc tttatcatga gggattctgt atcctgtctc tcatctacac ttgctggcct
     2821 tcctggttgt gatttattgg aacagtctac acaaaaacca tagggtcaag atccatgtct
     2881 tactccaaca ctggctgcta acatgatctt acataccata catttgcatt tttatccttc
     2941 ttgtgcacca agaaatgttt tcttacatgt tttctccaag tgtaaaaagt cacagctaaa
     3001 tgatctcact cctgtatgaa taagcaagtg cttttttagt gtttgtttgc atttggctgc
     3061 atagctacaa tgatggcatt ttaacttatt catgattaga gatgatgata tggtttggat
     3121 atttgttgtg cccaaatttc atgctgaaat gtaatcccta gtgttggagg tgaggcctgg
     3181 tgggagttgt ttgggtcatg ggggtggacc ctcatggctt ggtactgtcc tcatgagagt
     3241 atgatagtga gtgagttctc aagagatatg actgtttaaa agtgtgtggc acctcctccc
     3301 catcctcaca ctctttcttg cctcctctct cgccatgtga gatgcctcct cgctgttcac
     3361 ctgctgccat gattgtaaac ttcctgaggc ctccccagaa gccaagtaga tgcaagcatt
     3421 atgcttctgt aaagcctgca ggaccatgat ccaattaaat ctcttttctt tataaatta
//
