LOCUS       NM_005326               2619 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens hydroxyacylglutathione hydrolase (HAGH), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005326
VERSION     NM_005326.6
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 2619)
  AUTHORS   Romaldi,B., Scire,A., Minnelli,C., Frontini,A., Casari,G.,
            Cianfruglia,L., Mobbili,G., de Bari,L., Antognelli,C.,
            Pallardo,F.V. and Armeni,T.
  TITLE     Overexpression of Glyoxalase 2 in Human Breast Cancer Cells:
            Implications for Cell Proliferation and Doxorubicin Resistance
  JOURNAL   Int J Mol Sci 25 (20), 10888 (2024)
   PUBMED   39456676
  REMARK    GeneRIF: Overexpression of Glyoxalase 2 in Human Breast Cancer
            Cells: Implications for Cell Proliferation and Doxorubicin
            Resistance.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2619)
  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   3  (bases 1 to 2619)
  AUTHORS   Jennings,E.Q., Ray,J.D., Zerio,C.J., Trujillo,M.N., McDonald,D.M.,
            Chapman,E., Spiegel,D.A. and Galligan,J.J.
  TITLE     Sirtuin 2 Regulates Protein LactoylLys Modifications
  JOURNAL   Chembiochem 22 (12), 2102-2106 (2021)
   PUBMED   33725370
  REMARK    GeneRIF: Sirtuin 2 Regulates Protein LactoylLys Modifications.
REFERENCE   4  (bases 1 to 2619)
  AUTHORS   Ahmad,S., Milan,M.D.C., Hansson,O., Demirkan,A., Agustin,R.,
            Saez,M.E., Giagtzoglou,N., Cabrera-Socorro,A., Bakker,M.H.M.,
            Ramirez,A., Hankemeier,T., Stomrud,E., Mattsson-Carlgren,N.,
            Scheltens,P., van der Flier,W.M., Ikram,M.A., Malarstig,A.,
            Teunissen,C.E., Amin,N. and van Duijn,C.M.
  TITLE     CDH6 and HAGH protein levels in plasma associate with Alzheimer's
            disease in APOE epsilon4 carriers
  JOURNAL   Sci Rep 10 (1), 8233 (2020)
   PUBMED   32427856
  REMARK    GeneRIF: CDH6 and HAGH protein levels in plasma associate with
            Alzheimer's disease in APOE epsilon4 carriers.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2619)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2619)
  AUTHORS   Hamilton,D.S. and Creighton,D.J.
  TITLE     Inhibition of glyoxalase I by the enediol mimic
            S-(N-hydroxy-N-methylcarbamoyl)glutathione. The possible basis of a
            tumor-selective anticancer strategy
  JOURNAL   J Biol Chem 267 (35), 24933-24936 (1992)
   PUBMED   1459997
REFERENCE   7  (bases 1 to 2619)
  AUTHORS   Mulley,J.C., Barton,N. and Callen,D.F.
  TITLE     Localisation of human PGP and HAGH genes to 16p13.3
  JOURNAL   Cytogenet Cell Genet 53 (2-3), 175-176 (1990)
   PUBMED   2164460
REFERENCE   8  (bases 1 to 2619)
  AUTHORS   Talesa,V., Uotila,L., Koivusalo,M., Principato,G., Giovannini,E.
            and Rosi,G.
  TITLE     Demonstration of glyoxalase II in rat liver mitochondria. Partial
            purification and occurrence in multiple forms
  JOURNAL   Biochim Biophys Acta 955 (1), 103-110 (1988)
   PUBMED   3382669
REFERENCE   9  (bases 1 to 2619)
  AUTHORS   Mulley,J.C. and Callen,D.F.
  TITLE     New regional localisations for HAGH and PGP on human chromosome 16
  JOURNAL   Hum Genet 74 (4), 423-424 (1986)
   PUBMED   3025077
REFERENCE   10 (bases 1 to 2619)
  AUTHORS   Kar,N.C. and Pearson,C.M.
  TITLE     Glyoxalase enzyme system in human muscular dystrophy
  JOURNAL   Clin Chim Acta 65 (1), 153-155 (1975)
   PUBMED   1192606
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DR006636.1, BC002627.2,
            BM982247.1 and AC012180.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005326.5.
            
            Summary: The enzyme encoded by this gene is classified as a
            thiolesterase and is responsible for the hydrolysis of
            S-lactoyl-glutathione to reduced glutathione and D-lactate. Three
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Oct 2013].
            
            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 :: SRR1803612.65330.1,
                                           SRR1803615.106892.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144333, SAMEA2144835
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000397356.8/
                                                  ENSP00000380514.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-271               DR006636.1         355-625
            272-1145            BC002627.2         590-1463
            1146-1150           BM982247.1         19-23               c
            1151-2619           AC012180.6         44640-46108         c
FEATURES             Location/Qualifiers
     source          1..2619
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2619
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /note="hydroxyacylglutathione hydrolase"
                     /db_xref="GeneID:3029"
                     /db_xref="HGNC:HGNC:4805"
                     /db_xref="MIM:138760"
     exon            1..114
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..965
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /EC_number="3.1.2.6"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; hydroxyacylglutathione hydroxylase;
                     hydroxyacylglutathione hydrolase, mitochondrial;
                     glyoxalase II"
                     /codon_start=1
                     /product="hydroxyacylglutathione hydrolase, mitochondrial
                     isoform 1 precursor"
                     /protein_id="NP_005317.2"
                     /db_xref="CCDS:CCDS10447.2"
                     /db_xref="GeneID:3029"
                     /db_xref="HGNC:HGNC:4805"
                     /db_xref="MIM:138760"
                     /translation="MVVGRGLLGRRSLAALGAACARRGLGPALLGVFCHTDLRKNLTV
                     DEGTMKVEVLPALTDNYMYLVIDDETKEAAIVDPVQPQKVVDAARKHGVKLTTVLTTH
                     HHWDHAGGNEKLVKLESGLKVYGGDDRIGALTHKITHLSTLQVGSLNVKCLATPCHTS
                     GHICYFVSKPGGSEPPAVFTGDTLFVAGCGKFYEGTADEMCKALLEVLGRLPPDTRVY
                     CGHEYTINNLKFARHVEPGNAAIREKLAWAKEKYSIGEPTVPSTLAEEFTYNPFMRVR
                     EKTVQQHAGETDPVTTMRAVRREKDQFKMPRD"
     exon            115..287
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            288..352
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            353..470
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            471..579
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            580..683
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            684..785
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            786..865
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     exon            866..2619
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1125..1130
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /note="hexamer: AACAAG"
     polyA_site      1145
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
                     /note="major polyA site"
     polyA_site      2619
                     /gene="HAGH"
                     /gene_synonym="GLO2; GLO2D; GLX2; GLXII; HAGH1"
ORIGIN      
        1 agtcctgggc agctcggcag tccagcccgg cccgggtcat ggtggtgggc cgagggctgc
       61 tcggccgccg cagcctcgcc gcgctgggag ccgcctgcgc ccgccgaggc ctcggtccag
      121 ccctgctggg agttttctgc cacacagatt tgcggaagaa cctgaccgtg gacgagggca
      181 ccatgaaggt agaggtgctg cctgccctga ccgacaacta catgtacctg gtcattgatg
      241 atgagaccaa ggaggctgcc attgtggatc cggtgcagcc ccagaaggtc gtggacgcgg
      301 cgagaaagca cggggtgaaa ctgaccacag tgctcaccac ccaccaccac tgggaccatg
      361 ctggcgggaa tgagaaactg gtcaagctgg agtcgggact gaaggtgtac gggggtgacg
      421 accgtatcgg ggccctgact cacaagatca ctcacctgtc cacactgcag gtggggtctc
      481 tgaacgtcaa gtgcctggcg accccgtgcc acacttcagg acacatttgt tacttcgtga
      541 gcaagcccgg aggctcggag ccccctgccg tgttcacagg tgacaccttg tttgtggctg
      601 gctgcgggaa gttctatgaa gggactgcgg atgagatgtg taaagctctg ctggaggtct
      661 tgggccggct ccccccggac acaagagtct actgtggcca cgagtacacc atcaacaacc
      721 tcaagtttgc acgccacgtg gagcccggca atgccgccat ccgggagaag ctggcctggg
      781 ccaaggagaa gtacagcatc ggggagccca cagtgccatc caccctggca gaggagttta
      841 cctacaaccc cttcatgaga gtgagggaga agacggtgca gcagcacgca ggtgagacgg
      901 acccggtgac caccatgcgg gccgtgcgca gggagaagga ccagttcaag atgccccggg
      961 actgaggccg ccctgcacct tcagcggatt tggggattag gctcttttag gtaactggct
     1021 ttcctgctgg tccgtgcggg aaattcagtc ttgatttaac cttaatttta cagcccttgg
     1081 cttgtgttat cggacattct aatgcatatt tataagagaa gtttaacaag tatttattcc
     1141 cataacttcc ccttgcagac tgttttcttc tggcctttag gcctctgctt gtcccctcgg
     1201 gcctccttcc tcctccgtga gccactgcag tccccccacc cacgcttcag gtcaggcgtg
     1261 agccggtgcc tttgctgtgg ccttggctgg gtgctgatgg gactgtcagg cccactgctg
     1321 cggtcggtac ctttgcagcc tgtgcttgtg gtctgatctg ctcaggcccc cggcagggag
     1381 aggtggccgc gtcttcttcc tggaggcggc cagatcgcgc gacctccagg cagtgctcct
     1441 actcggcagc acccacctgc ctctgcttga gaaagcacaa accgccctct ggggaagcag
     1501 ccagctgggg agtgctctcg gcctgtgacc ccgggagggc tgggtaggtg gccacatgtc
     1561 ctgccccggc tctgggtgtg gctggtggca gagggtctat gagggaaggg caggacaaag
     1621 gcaaccccta aggctaatct gaaatttagg gctgggcgtg gtggctaagc ctgtgatccc
     1681 agcactttgg gaggccgagg cgggtggatc acgaggtcag gagatcgagt ccatcctggc
     1741 taacatggtg aaaccccgtc tctactaaaa atacaaaaaa ttagccaggt gtggtggcag
     1801 acacctgtag tcccggctac tcgggaggct aaggcaggag aatggtgtga acccaggagg
     1861 cggggcttgc agtgagccga gatagcgcca ctgcactcca gcctgggaga cagagcaaga
     1921 ctctgtctca aaaaaaaaaa aatatgaaat ttaataataa tctttttaaa aagttacctg
     1981 ggcagggtgg tgtgcagctg tagtcctagc tactcaggag gctgaggcag gaggatcgct
     2041 tgagcccggg agtccaaggc tgcagtgagc attgcttgtg ccactgcatt ctggcttggg
     2101 gaacagggag accctgtctc aaagaaatta attaatcatg cagttgagtg gtatttagtc
     2161 cattcacaat gctgcagccg cctctcgcgt gttctgaaac atttgaccta ttcactgact
     2221 gactgactgc tctgtcagtg agctgtgagg ggaggtgact ctgtgtgggg cccacaccct
     2281 ctgccacctg gtcctataga cagactcttc tgagtggagg ggcagagcgg ccctgggacc
     2341 taggagcaag cctggcccga ggcttgtgga ttgaagagga aggctggcac tgcacttcag
     2401 accacatgca tgccctcccc ccggaggggt cactggtctg ttcgcatact cgcagacccc
     2461 tctgggatgc cacggaagcc aggcgtgtgt gaggaggcag ggcagactgc ttctccggct
     2521 ttcttctccc actacccccg ccccagcgca aagagtttgt tctattgttc agcaaatatt
     2581 cttaggccag aatcttaaat gtttccattc tataacaaa
//
