LOCUS       NM_014291               1473 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens glycine C-acetyltransferase (GCAT), transcript variant
            2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_014291
VERSION     NM_014291.4
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 1473)
  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 1473)
  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 1473)
  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 1473)
  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 1473)
  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 1473)
  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 AK290093.1 and Z97630.11.
            
            On Feb 27, 2020 this sequence version replaced NM_014291.3.
            
            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 (2) differs in the 3' UTR and uses
            an alternate splice site in the coding region, compared to variant
            1. The encoded isoform (2) is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF077740.1, AK290093.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000248924.11/
                                                  ENSP00000248924.6
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               AK290093.1         23-170
            149-149             Z97630.11          15951-15951
            150-1208            AK290093.1         172-1230
            1209-1473           Z97630.11          24502-24766
FEATURES             Location/Qualifiers
     source          1..1473
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..1473
                     /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..1294
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /EC_number="2.3.1.29"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; 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 2 precursor"
                     /protein_id="NP_055106.1"
                     /db_xref="CCDS:CCDS13957.1"
                     /db_xref="GeneID:23464"
                     /db_xref="HGNC:HGNC:4188"
                     /db_xref="MIM:607422"
                     /translation="MWPGNAWRAALFWVPRGRRAQSALAQLRGILEGELEGIRGAGTW
                     KSERVITSRQGPHIRVDGVSGGILNFCANNYLGLSSHPEVIQAGLQALEEFGAGLSSV
                     RFICGTQSIHKNLEAKIARFHQREDAILYPSCYDANAGLFEALLTPEDAVLSDELNHA
                     SIIDGIRLCKAHKYRYRHLDMADLEAKLQEAQKHRLRLVATDGAFSMDGDIAPLQEIC
                     CLASRYGALVFMDECHATGFLGPTGRGTDELLGVMDQVTIINSTLGKALGGASGGYTT
                     GPGPLVSLLRQRARPYLFSNSLPPAVVGCASKALDLLMGSNTIVQSMAAKTQRFRSKM
                     EAAGFTISGASHPICPVMLGDARLASRMADDMLKRGIFVIGFSYPVVPKGKARIRVQI
                     SAVHSEEDIDRCVEAFVEVGRLHGALP"
     exon            231..361
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            362..463
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            464..610
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            611..765
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            766..848
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1020
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1021..1142
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1473
                     /gene="GCAT"
                     /gene_synonym="KBL"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1473
                     /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 gaatccttaa
      241 cttctgtgcc aacaactacc tgggcctgag cagccaccct gaggtgatcc aggcaggtct
      301 gcaggctctg gaggagtttg gagctggcct cagctctgtc cgctttatct gtggaaccca
      361 gagcatccac aagaatctag aagcaaaaat agcccgcttc caccagcggg aggatgccat
      421 cctctatccc agctgttatg acgccaacgc cggcctcttt gaggccctgc tgaccccaga
      481 ggacgcagtc ctgtcggacg agctgaacca tgcctccatc atcgacggca tccggctgtg
      541 caaggcccac aagtaccgct atcgccacct ggacatggcc gacctagaag ccaagctgca
      601 ggaggcccag aagcatcggc tgcgcctggt ggccactgat ggggcctttt ccatggatgg
      661 cgacatcgca cccctgcagg agatctgctg cctcgcctct agatatggtg ccctggtctt
      721 catggatgaa tgccatgcca ctggcttcct ggggcccaca ggacggggca cagatgagct
      781 gctgggtgtg atggaccagg tcaccatcat caactccacc ctggggaagg ccctgggtgg
      841 agcatcaggg ggctacacga cagggcctgg gcccctggtg tccctgctgc ggcagcgcgc
      901 ccggccatac ctcttctcca acagtctgcc acctgctgtc gttggctgcg cctccaaggc
      961 cctagatctg ctgatgggga gtaacaccat tgtccagtct atggctgcca agacccagag
     1021 gttccgtagt aagatggaag ctgctggctt cactatctcg ggagccagtc accccatctg
     1081 ccctgtgatg ctgggtgatg cccggctggc ctctcgcatg gcggatgaca tgctgaagag
     1141 aggcatcttt gtcatcgggt tcagctaccc cgtggtcccc aagggcaagg cccggatccg
     1201 ggtacagatc tcagcagtgc atagcgagga agacattgac cgctgcgtgg aggccttcgt
     1261 ggaagtgggg cgactgcacg gggcactgcc ctgagctctg ggtaaggacg agaagagcca
     1321 aggtccgcct actgccacag ggtcaaagga ggttttcgat cagcccagac cagaggctct
     1381 gagccctgaa ccaaagtccc agagctgggc tgggacgtga cctgtgctga gggctgtgag
     1441 aatgtgaaac aacagtgtga aaattggctg tga
//
