LOCUS       NM_001171690            1634 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens glycine C-acetyltransferase (GCAT), transcript variant
            1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001171690
VERSION     NM_001171690.2
KEYWORDS    RefSeq.
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 1634)
  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   2  (bases 1 to 1634)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1634)
  AUTHORS   Hoshino,A. and Fujii,H.
  TITLE     Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase
            by cold and osmotic stress
  JOURNAL   Cell Stress Chaperones 12 (2), 186-191 (2007)
   PUBMED   17688197
REFERENCE   4  (bases 1 to 1634)
  AUTHORS   Jacquot,C., Lanco,X., Carbonnelle,D., Sevestre,O., Tomasoni,C.,
            Briad,G., Juget,M., Roussis,V. and Roussakis,C.
  TITLE     Effect of four genes (ALDH1, NRF1, JAM and KBL) on proliferation
            arrest in a non-small cell bronchopulmonary cancer line
  JOURNAL   Anticancer Res 22 (4), 2229-2235 (2002)
   PUBMED   12174908
  REMARK    GeneRIF: effect of gene on proliferation arrest in a non-small cell
            bronchopulmonary cancer line.
REFERENCE   5  (bases 1 to 1634)
  AUTHORS   Edgar,A.J. and Polak,J.M.
  TITLE     Molecular cloning of the human and murine 2-amino-3-ketobutyrate
            coenzyme A ligase cDNAs
  JOURNAL   Eur J Biochem 267 (6), 1805-1812 (2000)
   PUBMED   10712613
REFERENCE   6  (bases 1 to 1634)
  AUTHORS   Tressel,T., Thompson,R., Zieske,L.R., Menendez,M.I. and Davis,L.
  TITLE     Interaction between L-threonine dehydrogenase and aminoacetone
            synthetase and mechanism of aminoacetone production
  JOURNAL   J Biol Chem 261 (35), 16428-16437 (1986)
   PUBMED   3536927
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP309052.1, AK123190.1 and
            Z97630.11.
            
            On Aug 13, 2020 this sequence version replaced NM_001171690.1.
            
            Summary: The degradation of L-threonine to glycine consists of a
            two-step biochemical pathway involving the enzymes L-threonine
            dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase.
            L-Threonine is first converted into 2-amino-3-ketobutyrate by
            L-threonine dehydrogenase. This gene encodes the second enzyme in
            this pathway, which then catalyzes the reaction between
            2-amino-3-ketobutyrate and coenzyme A to form glycine and
            acetyl-CoA. The encoded enzyme is considered a class II
            pyridoxal-phosphate-dependent aminotransferase. Alternate splicing
            results in multiple transcript variants. A pseudogene of this gene
            is found on chromosome 14. [provided by RefSeq, Jan 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK123190.1, SRR14038191.167052.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 BP309052.1         30-33
            5-263               AK123190.1         1-259
            264-264             Z97630.11          17851-17851
            265-728             AK123190.1         261-724
            729-1627            AK123190.1         726-1624
            1628-1634           Z97630.11          25046-25052
FEATURES             Location/Qualifiers
     source          1..1634
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..1634
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /note="glycine C-acetyltransferase"
                     /db_xref="GeneID:23464"
                     /db_xref="HGNC:HGNC:4188"
                     /db_xref="MIM:607422"
     exon            1..230
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..1372
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /EC_number="2.3.1.29"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; AKB ligase; aminoacetone synthase;
                     2-amino-3-ketobutyrate-CoA ligase; 2-amino-3-ketobutyrate
                     coenzyme A ligase, mitochondrial; glycine
                     acetyltransferase"
                     /codon_start=1
                     /product="2-amino-3-ketobutyrate coenzyme A ligase,
                     mitochondrial isoform 1 precursor"
                     /protein_id="NP_001165161.1"
                     /db_xref="CCDS:CCDS54527.1"
                     /db_xref="GeneID:23464"
                     /db_xref="HGNC:HGNC:4188"
                     /db_xref="MIM:607422"
                     /translation="MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTW
                     KSERVITSRQGPHIRVDGVSGGPGTVIFPGLPLPHLSCCIHLLSFTSGILNFCANNYL
                     GLSSHPEVIQAGLQALEEFGAGLSSVRFICGTQSIHKNLEAKIARFHQREDAILYPSC
                     YDANAGLFEALLTPEDAVLSDELNHASIIDGIRLCKAHKYRYRHLDMADLEAKLQEAQ
                     KHRLRLVATDGAFSMDGDIAPLQEICCLASRYGALVFMDECHATGFLGPTGRGTDELL
                     GVMDQVTIINSTLGKALGGASGGYTTGPGPLVSLLRQRARPYLFSNSLPPAVVGCASK
                     ALDLLMGSNTIVQSMAAKTQRFRSKMEAAGFTISGASHPICPVMLGDARLASRMADDM
                     LKRGIFVIGFSYPVVPKGKARIRVQISAVHSEEDIDRCVEAFVEVGRLHGALP"
     exon            231..439
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            440..541
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            542..688
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            689..843
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            844..926
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            927..1098
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1099..1220
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1379
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1634
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1611..1616
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /note="hexamer: ACTAAA"
     polyA_site      1634
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /note="major polyA site"
ORIGIN      
        1 aggcaggcag gcgcgctcgg gcgaggtagg agcgatgtgg cctgggaacg cctggcgcgc
       61 cgcactcttc tgggtgcccc gcggccgccg cgcacagtca gcgctggccc agctgcgtgg
      121 cattctggag ggggagctgg aaggcatccg cggagctggc acttggaaga gtgagcgggt
      181 catcacgtcc cgtcaggggc cgcacatccg cgtggacggc gtctccggag ggcctggcac
      241 tgtcatcttt ccaggcctgc ccttgcccca cctgagctgc tgtatccatc tcctctcctt
      301 cacctcagga atccttaact tctgtgccaa caactacctg ggcctgagca gccaccctga
      361 ggtgatccag gcaggtctgc aggctctgga ggagtttgga gctggcctca gctctgtccg
      421 ctttatctgt ggaacccaga gcatccacaa gaatctagaa gcaaaaatag cccgcttcca
      481 ccagcgggag gatgccatcc tctatcccag ctgttatgac gccaacgccg gcctctttga
      541 ggccctgctg accccagagg acgcagtcct gtcggacgag ctgaaccatg cctccatcat
      601 cgacggcatc cggctgtgca aggcccacaa gtaccgctat cgccacctgg acatggccga
      661 cctagaagcc aagctgcagg aggcccagaa gcatcggctg cgcctggtgg ccactgatgg
      721 ggccttttcc atggatggcg acatcgcacc cctgcaggag atctgctgcc tcgcctctag
      781 atatggtgcc ctggtcttca tggatgaatg ccatgccact ggcttcctgg ggcccacagg
      841 acggggcaca gatgagctgc tgggtgtgat ggaccaggtc accatcatca actccaccct
      901 ggggaaggcc ctgggtggag catcaggggg ctacacgaca gggcctgggc ccctggtgtc
      961 cctgctgcgg cagcgcgccc ggccatacct cttctccaac agtctgccac ctgctgtcgt
     1021 tggctgcgcc tccaaggccc tagatctgct gatggggagt aacaccattg tccagtctat
     1081 ggctgccaag acccagaggt tccgtagtaa gatggaagct gctggcttca ctatctcggg
     1141 agccagtcac cccatctgcc ctgtgatgct gggtgatgcc cggctggcct ctcgcatggc
     1201 ggatgacatg ctgaagagag gcatctttgt catcgggttc agctaccccg tggtccccaa
     1261 gggcaaggcc cggatccggg tacagatctc agcagtgcat agcgaggaag acattgaccg
     1321 ctgcgtggag gccttcgtgg aagtggggcg actgcacggg gcactgccct gagctctggg
     1381 cccagtcctg tggccggttg aagaatcagg caggagccag ggctctgagg ggaggcgcct
     1441 gaggactgca gatctccact gacctctttc cctagattaa gatgggaccc agtggccggg
     1501 cacggtggct caggcctgta atcccagcac tttgggaggc caaggtaggc ggatcacctg
     1561 aggtcgggag tttgagacca gcctgaccaa catggagaaa ccccgtctct actaaaaata
     1621 cgaaattagc cagg
//
