LOCUS       NM_001190               1563 bp    mRNA    linear   PRI 27-APR-2025
DEFINITION  Homo sapiens branched chain amino acid transaminase 2 (BCAT2),
            transcript variant a, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001190
VERSION     NM_001190.4
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 1563)
  AUTHORS   Kang,Z.R., Jiang,S., Han,J.X., Gao,Y., Xie,Y., Chen,J., Liu,Q.,
            Yu,J., Zhao,X., Hong,J., Chen,H., Chen,Y.X., Chen,H. and Fang,J.Y.
  TITLE     Deficiency of BCAT2-mediated branched-chain amino acid catabolism
            promotes colorectal cancer development
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (2), 166941 (2024)
   PUBMED   37926361
  REMARK    GeneRIF: Deficiency of BCAT2-mediated branched-chain amino acid
            catabolism promotes colorectal cancer development.
REFERENCE   2  (bases 1 to 1563)
  AUTHORS   Tian,Y., Ma,J., Wang,H., Yi,X., Wang,H., Zhang,H., Guo,S., Yang,Y.,
            Zhang,B., Du,J., Shi,Q., Gao,T., Guo,W. and Li,C.
  TITLE     BCAT2 promotes melanoma progression by activating lipogenesis via
            the epigenetic regulation of FASN and ACLY expressions
  JOURNAL   Cell Mol Life Sci 80 (11), 315 (2023)
   PUBMED   37801083
  REMARK    GeneRIF: BCAT2 promotes melanoma progression by activating
            lipogenesis via the epigenetic regulation of FASN and ACLY
            expressions.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1563)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   4  (bases 1 to 1563)
  AUTHORS   Vargas-Morales,J.M., Guizar-Heredia,R., Mendez-Garcia,A.L.,
            Palacios-Gonzalez,B., Schcolnik-Cabrera,A., Granados,O.,
            Lopez-Barradas,A.M., Vazquez-Manjarrez,N., Medina-Vera,I.,
            Aguilar-Lopez,M., Tovar-Palacio,C., Ordaz-Nava,G.,
            Rocha-Viggiano,A.K., Medina-Cerda,E., Torres,N., Ordovas,J.M.,
            Tovar,A.R., Guevara-Cruz,M. and Noriega,L.G.
  TITLE     Association of BCAT2 and BCKDH polymorphisms with clinical,
            anthropometric and biochemical parameters in young adults
  JOURNAL   Nutr Metab Cardiovasc Dis 31 (11), 3210-3218 (2021)
   PUBMED   34511290
  REMARK    GeneRIF: Association of BCAT2 and BCKDH polymorphisms with
            clinical, anthropometric and biochemical parameters in young
            adults.
REFERENCE   5  (bases 1 to 1563)
  AUTHORS   Yennawar,N., Dunbar,J., Conway,M., Hutson,S. and Farber,G.
  TITLE     The structure of human mitochondrial branched-chain
            aminotransferase
  JOURNAL   Acta Crystallogr D Biol Crystallogr 57 (Pt 4), 506-515 (2001)
   PUBMED   11264579
REFERENCE   6  (bases 1 to 1563)
  AUTHORS   Than,N.G., Sumegi,B., Than,G.N., Bellyei,S. and Bohn,H.
  TITLE     Molecular cloning and characterization of placental tissue protein
            18 (PP18a)/human mitochondrial branched-chain aminotransferase
            (BCATm) and its novel alternatively spliced PP18b variant
  JOURNAL   Placenta 22 (2-3), 235-243 (2001)
   PUBMED   11170829
REFERENCE   7  (bases 1 to 1563)
  AUTHORS   Bledsoe,R.K., Dawson,P.A. and Hutson,S.M.
  TITLE     Cloning of the rat and human mitochondrial branched chain
            aminotransferases (BCATm)
  JOURNAL   Biochim Biophys Acta 1339 (1), 9-13 (1997)
   PUBMED   9165094
REFERENCE   8  (bases 1 to 1563)
  AUTHORS   Eden,A., Simchen,G. and Benvenisty,N.
  TITLE     Two yeast homologs of ECA39, a target for c-Myc regulation, code
            for cytosolic and mitochondrial branched-chain amino acid
            aminotransferases
  JOURNAL   J Biol Chem 271 (34), 20242-20245 (1996)
   PUBMED   8702755
REFERENCE   9  (bases 1 to 1563)
  AUTHORS   Bohn,H. and Winckler,W.
  TITLE     Isolation and characterization of four new placental tissue
            proteins (PP18, PP19, PP20, PP21)
  JOURNAL   Arch Gynecol 236 (4), 235-242 (1985)
   PUBMED   3896163
REFERENCE   10 (bases 1 to 1563)
  AUTHORS   Naylor,S.L. and Shows,T.B.
  TITLE     Branched-chain aminotransferase deficiency in Chinese hamster cells
            complemented by two independent genes on human chromosomes 12 and
            19
  JOURNAL   Somatic Cell Genet 6 (5), 641-652 (1980)
   PUBMED   6933702
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA129578.1, BC001900.1 and
            CA310873.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001190.3.
            
            Summary: This gene encodes a branched chain aminotransferase found
            in mitochondria. The encoded protein forms a dimer that catalyzes
            the first step in the production of the branched chain amino acids
            leucine, isoleucine, and valine. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (a) encodes the longest isoform
            (a), also known as PP18a.
            
            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 :: SRR5189655.87615.1, AK223522.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000316273.11/
                                                  ENSP00000322991.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 DA129578.1         35-43
            10-1561             BC001900.1         1-1552
            1562-1563           CA310873.1         20-21               c
FEATURES             Location/Qualifiers
     source          1..1563
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..1563
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /note="branched chain amino acid transaminase 2"
                     /db_xref="GeneID:587"
                     /db_xref="HGNC:HGNC:977"
                     /db_xref="MIM:113530"
     exon            1..46
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     CDS             23..1201
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /EC_number="2.6.1.42"
                     /note="isoform a precursor is encoded by transcript
                     variant a; branched chain aminotransferase 2,
                     mitochondrial; placental protein 18; branched chain
                     amino-acid transaminase 2, mitochondrial"
                     /codon_start=1
                     /product="branched-chain-amino-acid aminotransferase,
                     mitochondrial isoform a precursor"
                     /protein_id="NP_001181.2"
                     /db_xref="CCDS:CCDS12735.1"
                     /db_xref="GeneID:587"
                     /db_xref="HGNC:HGNC:977"
                     /db_xref="MIM:113530"
                     /translation="MAAAALGQIWARKLLSVPWLLCGPRRYASSSFKAADLQLEMTQK
                     PHKKPGPGEPLVFGKTFTDHMLMVEWNDKGWGQPRIQPFQNLTLHPASSSLHYSLQLF
                     EGMKAFKGKDQQVRLFRPWLNMDRMLRSAMRLCLPSFDKLELLECIRRLIEVDKDWVP
                     DAAGTSLYVRPVLIGNEPSLGVSQPTRALLFVILCPVGAYFPGGSVTPVSLLADPAFI
                     RAWVGGVGNYKLGGNYGPTVLVQQEALKRGCEQVLWLYGPDHQLTEVGTMNIFVYWTH
                     EDGVLELVTPPLNGVILPGVVRQSLLDMAQTWGEFRVVERTITMKQLLRALEEGRVRE
                     VFGSGTACQVCPVHRILYKDRNLHIPTMENGPELILRFQKELKEIQYGIRAHEWMFPV
                     "
     exon            47..121
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            122..322
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            323..433
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            434..553
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            554..717
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            718..860
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            861..946
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            947..1087
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1162
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1563
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1543..1548
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /note="hexamer: AATAAA"
     polyA_site      1563
                     /gene="BCAT2"
                     /gene_synonym="BCAM; BCATM; BCT2; HVLI; PP18"
                     /note="major polyA site"
ORIGIN      
        1 acagttacgc gccgcacgga tcatggccgc agccgctctg gggcagatct gggcacgaaa
       61 gcttctctct gtcccttggc ttctgtgtgg tcccagaaga tatgcctcct ccagtttcaa
      121 ggctgcagac ctgcagctgg aaatgacaca gaagcctcat aagaagcctg gccccggcga
      181 gcccctggtg tttgggaaga catttaccga ccacatgctg atggtggaat ggaatgacaa
      241 gggctggggc cagccccgaa tccagccctt ccagaacctc acgctgcacc cagcctcctc
      301 cagcctccac tactccctgc agctgtttga gggcatgaag gcgttcaaag gcaaagacca
      361 gcaggtgcgc ctcttccgcc cctggctcaa catggaccgg atgctgcgct cagccatgcg
      421 cctgtgcctg ccgagtttcg acaagctgga gttgctggag tgcatccgcc ggctcatcga
      481 agtggacaag gactgggtcc ccgatgccgc cggcaccagc ctctatgtgc ggcctgtgct
      541 cattgggaac gagccctcgc tgggtgtcag ccagcccacg cgcgcgctcc tgttcgtcat
      601 tctctgccca gtgggtgcct acttccctgg aggctccgtg accccggtct ccctcctggc
      661 cgacccagcc ttcatccggg cctgggtggg cggggtcggc aactacaagt taggtgggaa
      721 ttatgggccc accgtgttag tgcaacagga ggcactcaag cggggctgtg aacaggtcct
      781 ctggctgtat gggcccgacc accagctcac cgaggtggga accatgaaca tctttgtcta
      841 ctggacccac gaagatgggg tgctggagct ggtgacgccc ccgctgaatg gtgttatcct
      901 gcctggagtg gtcagacaga gtctactgga catggctcag acctggggtg agttccgggt
      961 ggtggagcgc acgatcacca tgaagcagtt gctgcgggcc ctggaggagg gccgcgtgcg
     1021 ggaagtcttt ggctcgggca ccgcttgcca ggtctgccca gtgcaccgaa tcctgtacaa
     1081 agacaggaac ctccacattc ccaccatgga aaatgggcct gagctgatcc tccgcttcca
     1141 gaaggagctg aaggagatcc agtacggaat cagagcccac gagtggatgt tcccggtgtg
     1201 aagctgcagg ctgtgctcca gatccaccga cccgtagcat ctcgtcacgc cagcactcgc
     1261 ctccctacca atgactcacc tgaagtgcaa tacgaaataa aaggccagcg ggcggcgtct
     1321 gggtctctgg cgcccccatg tggttgcgac actcccaaag ccgtaagggc cgacccaggc
     1381 atcttggccc ccagcccctc gtcgcgggtt caggtccgcc cattactcct tgtcgtgcgg
     1441 tcaaggatac accttggccc cgattccgga tctctccgtt ctcaggccag acccctggtg
     1501 ctgccgttga tttttttttc tctgtctttg ctgcaatttt gaaataaaat gccaaagaac
     1561 aca
//
