LOCUS       NM_012203               1250 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens glyoxylate and hydroxypyruvate reductase (GRHPR),
            mRNA.
ACCESSION   NM_012203
VERSION     NM_012203.2
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 1250)
  AUTHORS   Garrelfs,S.F., Chornyi,S., Te Brinke,H., Ruiter,J., Groothoff,J.
            and Wanders,R.J.A.
  TITLE     Glyoxylate reductase: Definitive identification in human liver
            mitochondria, its importance for the compartment-specific
            detoxification of glyoxylate
  JOURNAL   J Inherit Metab Dis 47 (2), 280-288 (2024)
   PUBMED   38200664
  REMARK    GeneRIF: Glyoxylate reductase: Definitive identification in human
            liver mitochondria, its importance for the compartment-specific
            detoxification of glyoxylate.
REFERENCE   2  (bases 1 to 1250)
  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 1250)
  AUTHORS   Katane,M., Matsuda,S., Saitoh,Y., Miyamoto,T., Sekine,M.,
            Sakai-Kato,K. and Homma,H.
  TITLE     Glyoxylate reductase/hydroxypyruvate reductase regulates the free
            d-aspartate level in mammalian cells
  JOURNAL   J Cell Biochem 122 (11), 1639-1652 (2021)
   PUBMED   34289161
  REMARK    GeneRIF: Glyoxylate reductase/hydroxypyruvate reductase regulates
            the free d-aspartate level in mammalian cells.
REFERENCE   4  (bases 1 to 1250)
  AUTHORS   Takayama,T., Takaoka,N., Nagata,M., Johnin,K., Okada,Y., Tanaka,S.,
            Kawamura,M., Inokuchi,T., Ohse,M., Kuhara,T., Tanioka,F.,
            Yamada,H., Sugimura,H. and Ozono,S.
  TITLE     Ethnic differences in GRHPR mutations in patients with primary
            hyperoxaluria type 2
  JOURNAL   Clin Genet 86 (4), 342-348 (2014)
   PUBMED   24116921
  REMARK    GeneRIF: GRHPR was genotyped in Japanese patients with PH2 and all
            GRHPR mutations described to date were reviewed in terms of
            geographic and ethnic association
REFERENCE   5  (bases 1 to 1250)
  AUTHORS   Subramanian,V.S., Nabokina,S.M., Patton,J.R., Marchant,J.S.,
            Moradi,H. and Said,H.M.
  TITLE     Glyoxalate reductase/hydroxypyruvate reductase interacts with the
            sodium-dependent vitamin C transporter-1 to regulate cellular
            vitamin C homeostasis
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 304 (12), G1079-G1086
            (2013)
   PUBMED   23599041
  REMARK    GeneRIF: GRHPR directly interacts with SVCT1.
REFERENCE   6  (bases 1 to 1250)
  AUTHORS   Webster,K.E., Ferree,P.M., Holmes,R.P. and Cramer,S.D.
  TITLE     Identification of missense, nonsense, and deletion mutations in the
            GRHPR gene in patients with primary hyperoxaluria type II (PH2)
  JOURNAL   Hum Genet 107 (2), 176-185 (2000)
   PUBMED   11030416
REFERENCE   7  (bases 1 to 1250)
  AUTHORS   Huang,T., Yang,W., Pereira,A.C., Craigen,W.J. and Shih,V.E.
  TITLE     Cloning and characterization of a putative human d-2-hydroxyacid
            dehydrogenase in chromosome 9q
  JOURNAL   Biochem Biophys Res Commun 268 (2), 298-301 (2000)
   PUBMED   10679197
REFERENCE   8  (bases 1 to 1250)
  AUTHORS   Cramer,S.D., Ferree,P.M., Lin,K., Milliner,D.S. and Holmes,R.P.
  TITLE     The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in
            patients with primary hyperoxaluria type II
  JOURNAL   Hum Mol Genet 8 (11), 2063-2069 (1999)
   PUBMED   10484776
  REMARK    Erratum:[Hum Mol Genet 1999 Dec;8(13):2574]
REFERENCE   9  (bases 1 to 1250)
  AUTHORS   Rumsby,G. and Cregeen,D.P.
  TITLE     Identification and expression of a cDNA for human
            hydroxypyruvate/glyoxylate reductase
  JOURNAL   Biochim Biophys Acta 1446 (3), 383-388 (1999)
   PUBMED   10524214
REFERENCE   10 (bases 1 to 1250)
  AUTHORS   Rumsby,G. and Hulton,S.A.
  TITLE     Primary Hyperoxaluria Type 2
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301742
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158155.24 and AF134895.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 24, 2018 this sequence version replaced NM_012203.1.
            
            Summary: This gene encodes an enzyme with hydroxypyruvate
            reductase, glyoxylate reductase, and D-glycerate dehydrogenase
            enzymatic activities. The enzyme has widespread tissue expression
            and has a role in metabolism. Type II hyperoxaluria is caused by
            mutations in this gene. [provided by RefSeq, Jul 2008].
            
            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 :: AK025978.1, SRR3476690.211442.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318158.11/ ENSP00000313432.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                AL158155.24        149054-149067
            15-1249             AF134895.1         1-1235
            1250-1250           AL158155.24        163348-163348
FEATURES             Location/Qualifiers
     source          1..1250
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p13.2"
     gene            1..1250
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /note="glyoxylate and hydroxypyruvate reductase"
                     /db_xref="GeneID:9380"
                     /db_xref="HGNC:HGNC:4570"
                     /db_xref="MIM:604296"
     exon            1..138
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             56..1042
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /EC_number="1.1.1.79"
                     /EC_number="1.1.1.81"
                     /note="glycerate-2-dehydrogenase; glyoxylate reductase and
                     hydroxypyruvate reductase; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="glyoxylate reductase/hydroxypyruvate reductase"
                     /protein_id="NP_036335.1"
                     /db_xref="CCDS:CCDS6609.1"
                     /db_xref="GeneID:9380"
                     /db_xref="HGNC:HGNC:4570"
                     /db_xref="MIM:604296"
                     /translation="MRPVRLMKVFVTRRIPAEGRVALARAADCEVEQWDSDEPIPAKE
                     LERGVAGAHGLLCLLSDHVDKRILDAAGANLKVISTMSVGIDHLALDEIKKRGIRVGY
                     TPDVLTDTTAELAVSLLLTTCRRLPEAIEEVKNGGWTSWKPLWLCGYGLTQSTVGIIG
                     LGRIGQAIARRLKPFGVQRFLYTGRQPRPEEAAEFQAEFVSTPELAAQSDFIVVACSL
                     TPATEGLCNKDFFQKMKETAVFINISRGDVVNQDDLYQALASGKIAAAGLDVTSPEPL
                     PTNHPLLTLKNCVILPHIGSATHRTRNTMSLLAANNLLAGLRGEPMPSELKL"
     exon            139..269
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            270..342
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            343..459
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            460..548
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            549..653
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            654..789
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            790..920
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1250
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1232..1237
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /note="hexamer: ATTAAA"
     polyA_site      1250
                     /gene="GRHPR"
                     /gene_synonym="GLXR; GLYD; PH2"
                     /note="major polyA site"
ORIGIN      
        1 acattcccgg gccagcttct gtactgccag gtccgggtcg gcggctgcac tgcggatgag
       61 accggtgcga ctcatgaagg tgttcgtcac ccgcaggata cccgccgagg gtagggtcgc
      121 gctcgcccgg gcggcagact gtgaggtgga gcagtgggac tcggatgagc ccatccctgc
      181 caaggagcta gagcgaggtg tggcgggggc ccacggcctg ctctgcctcc tctccgacca
      241 cgtggacaag aggatcctgg atgctgcagg ggccaatctc aaagtcatca gcaccatgtc
      301 tgtgggcatc gaccacttgg ctttggatga aatcaagaag cgtgggatcc gagttggcta
      361 caccccagat gtcctgacag ataccaccgc cgaactcgca gtctccctgc tacttaccac
      421 ctgccgccgg ttgccggagg ccatcgagga agtgaagaat ggtggctgga cctcgtggaa
      481 gcccctctgg ctgtgtggct atggactcac gcagagcact gtcggcatca tcgggctggg
      541 gcgcataggc caggccattg ctcggcgtct gaaaccattc ggtgtccaga gatttctgta
      601 cacagggcgc cagcccaggc ctgaggaagc agcagaattc caggcagagt ttgtgtctac
      661 ccctgagctg gctgcccaat ctgatttcat cgtcgtggcc tgctccttaa cacctgcaac
      721 cgagggactc tgcaacaagg acttcttcca gaagatgaag gaaacagctg tgttcatcaa
      781 catcagcagg ggcgacgtcg taaaccagga cgacctgtac caggccttgg ccagtggtaa
      841 gattgcagct gctggactgg atgtgacgag cccagaacca ctgcctacaa accaccctct
      901 cctgaccctg aagaactgtg tgattctgcc ccacattggc agtgccaccc acagaacccg
      961 caacaccatg tccttgttgg cagctaacaa cttgctggct ggcctgagag gggagccgat
     1021 gcctagtgaa ctcaagctgt agccaaacag tagagatgga gggccgggaa gcaaaccgtg
     1081 ccctggtatt gtcagacaca cccaggcttg atttggatcc acaggcagag ccaagggaag
     1141 gtgtgattct ctgaggaaag agtgattctg atatatgtac ttgtcacatt ggtgttggac
     1201 acatttgcgc caaaagtatg gtaattctat tattaaataa ttctctgaga
//
