LOCUS       NM_138413               2442 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_138413
VERSION     NM_138413.4
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 2442)
  AUTHORS   Ge,Y., Liu,Y., Zhan,R., Zhao,Z., Li,J., Wang,W. and Tian,Y.
  TITLE     HOGA1 variants in Chinese patients with primary hyperoxaluria type
            3: genetic features and genotype-phenotype relationships
  JOURNAL   World J Urol 41 (8), 2141-2148 (2023)
   PUBMED   37318624
  REMARK    GeneRIF: HOGA1 variants in Chinese patients with primary
            hyperoxaluria type 3: genetic features and genotype-phenotype
            relationships.
REFERENCE   2  (bases 1 to 2442)
  AUTHORS   Patel,D.M., Page,N. and Dahl,N.K.
  TITLE     Kidney cysts in patients with HOGA1 variants
  JOURNAL   Clin Nephrol 99 (5), 260-264 (2023)
   PUBMED   36928260
  REMARK    GeneRIF: Kidney cysts in patients with HOGA1 variants.
REFERENCE   3  (bases 1 to 2442)
  AUTHORS   Abid,A., Raza,A., Aziz,T. and Khaliq,S.
  TITLE     HOGA1 gene pathogenic variants in primary hyperoxaluria type III:
            Spectrum of pathogenic sequence variants, and phenotypic
            association
  JOURNAL   Hum Mutat 43 (12), 1757-1779 (2022)
   PUBMED   36259736
  REMARK    GeneRIF: HOGA1 gene pathogenic variants in primary hyperoxaluria
            type III: Spectrum of pathogenic sequence variants, and phenotypic
            association.
            Review article
REFERENCE   4  (bases 1 to 2442)
  AUTHORS   Zhao,Y., Li,Y., Fang,X., He,L., Fan,Y., Geng,H. and Wu,J.
  TITLE     Extended genetic analysis of exome sequencing for primary
            hyperoxaluria in pediatric urolithiasis patients with hyperoxaluria
  JOURNAL   Gene 815, 146155 (2022)
   PUBMED   34995728
  REMARK    GeneRIF: Extended genetic analysis of exome sequencing for primary
            hyperoxaluria in pediatric urolithiasis patients with
            hyperoxaluria.
REFERENCE   5  (bases 1 to 2442)
  AUTHORS   Monico,C.G., Rossetti,S., Belostotsky,R., Cogal,A.G., Herges,R.M.,
            Seide,B.M., Olson,J.B., Bergstrahl,E.J., Williams,H.J., Haley,W.E.,
            Frishberg,Y. and Milliner,D.S.
  TITLE     Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a
            possible risk factor for idiopathic calcium oxalate urolithiasis
  JOURNAL   Clin J Am Soc Nephrol 6 (9), 2289-2295 (2011)
   PUBMED   21896830
  REMARK    GeneRIF: Detection of HOGA1 variants in idiopathic calcium oxalate
            urolithiasis also suggests HOGA1 may be a predisposing factor for
            this condition
REFERENCE   6  (bases 1 to 2442)
  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   7  (bases 1 to 2442)
  AUTHORS   Belostotsky,R., Seboun,E., Idelson,G.H., Milliner,D.S.,
            Becker-Cohen,R., Rinat,C., Monico,C.G., Feinstein,S.,
            Ben-Shalom,E., Magen,D., Weissman,I., Charon,C. and Frishberg,Y.
  TITLE     Mutations in DHDPSL are responsible for primary hyperoxaluria type
            III
  JOURNAL   Am J Hum Genet 87 (3), 392-399 (2010)
   PUBMED   20797690
  REMARK    GeneRIF: DHDPSL is the gene encoding 4-hydroxy-2-oxoglutarate
            aldolase, catalyzing the final step in the metabolic pathway of
            hydroxyproline.
REFERENCE   8  (bases 1 to 2442)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   9  (bases 1 to 2442)
  AUTHORS   Milliner,D.S., Harris,P.C., Sas,D.J. and Lieske,J.C.
  TITLE     Primary Hyperoxaluria Type 3
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26401545
REFERENCE   10 (bases 1 to 2442)
  AUTHORS   MAITRA,U. and DEKKER,E.E.
  TITLE     PURIFICATION AND PROPERTIES OF RAT LIVER 2-KETO-4-HYDROXYGLUTARATE
            ALDOLASE
  JOURNAL   J Biol Chem 239, 1485-1491 (1964)
   PUBMED   14193832
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC011916.2 and BC045550.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_138413.3.
            
            Summary: The authors of PMID:20797690 cloned this gene while
            searching for genes in a region of chromosome 10 linked to primary
            hyperoxalurea type III. They noted that even though the encoded
            protein has been described as a mitochondrial dihydrodipicolinate
            synthase-like enzyme, it shares little homology with E. coli
            dihydrodipicolinate synthase (Dhdps), particularly in the putative
            substrate-binding region. Moreover, neither lysine biosynthesis nor
            sialic acid metabolism, for which Dhdps is responsible, occurs in
            vertebrate mitochondria. They propose that this gene encodes
            mitochondrial 4-hydroxyl-2-oxoglutarate aldolase (EC 4.1.3.16),
            which catalyzes the final step in the metabolic pathway of
            hydroxyproline, releasing glyoxylate and pyruvate. This gene is
            predominantly expressed in the liver and kidney, and mutations in
            this gene are found in patients with primary hyperoxalurea type
            III. Alternatively spliced transcript variants encoding different
            isoforms have been noted for this gene. [provided by RefSeq, Nov
            2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC045550.1, SRR3476690.742212.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142680
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000370646.9/
                                                  ENSP00000359680.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-168               BC011916.2         45-212
            169-1226            BC045550.1         197-1254
            1227-2442           BC011916.2         782-1997
FEATURES             Location/Qualifiers
     source          1..2442
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..2442
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /note="4-hydroxy-2-oxoglutarate aldolase 1"
                     /db_xref="GeneID:112817"
                     /db_xref="HGNC:HGNC:25155"
                     /db_xref="MIM:613597"
     exon            1..526
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     CDS             316..1299
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /EC_number="4.1.3.16"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dihydrodipicolinate synthase-like, mitochondrial;
                     N-acetylneuraminate pyruvate lyase 2 (putative);
                     dihydrodipicolinate synthetase homolog 2; probable
                     4-hydroxy-2-oxoglutarate aldolase, mitochondrial; probable
                     KHG-aldolase; probable 2-keto-4-hydroxyglutarate aldolase;
                     protein 569272; DHDPS-like protein"
                     /codon_start=1
                     /product="4-hydroxy-2-oxoglutarate aldolase, mitochondrial
                     isoform 1"
                     /protein_id="NP_612422.2"
                     /db_xref="CCDS:CCDS7467.1"
                     /db_xref="GeneID:112817"
                     /db_xref="HGNC:HGNC:25155"
                     /db_xref="MIM:613597"
                     /translation="MLGPQVWSSVRQGLSRSLSRNVGVWASGEGKKVDIAGIYPPVTT
                     PFTATAEVDYGKLEENLHKLGTFPFRGFVVQGSNGEFPFLTSSERLEVVSRVRQAMPK
                     NRLLLAGSGCESTQATVEMTVSMAQVGADAAMVVTPCYYRGRMSSAALIHHYTKVADL
                     SPIPVVLYSVPANTGLDLPVDAVVTLSQHPNIVGMKDSGGDVTRIGLIVHKTRKQDFQ
                     VLAGSAGFLMASYALGAVGGVCALANVLGAQVCQLERLCCTGQWEDAQKLQHRLIEPN
                     AAVTRRFGIPGLKKIMDWFGYYGGPCRAPLQELSPAEEEALRMDFTSNGWL"
     exon            527..655
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            656..783
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            784..918
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            919..1015
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1016..1149
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     exon            1150..2442
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2198
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /note="major polyA site"
     regulatory      2422..2427
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /note="hexamer: AATAAA"
     polyA_site      2442
                     /gene="HOGA1"
                     /gene_synonym="C10orf65; DHDPS2; DHDPSL; HP3; NPL2"
                     /note="major polyA site"
ORIGIN      
        1 agatcccact ggagataccg aaggagatac tctttagtat tgggatccca gaaaccagtc
       61 ctatatctgg ccagagggac actgggttgt ggcatctctc tagctgctac ccagaaggaa
      121 cagggccccc tggggcctat aggccttgcc cctgaccctg ggaacaccca gctcaggcct
      181 gccccagtgg ccacaagtca gggaggccgc aaatttttaa ctagaaacat tgatcattaa
      241 tagggggtta gaaagagttc aaactaagtc tcactctggg acatagacca attgtgcttc
      301 aggcctcctg cagagatgct gggtccccaa gtctggtctt ctgtgaggca ggggctaagc
      361 aggagcttgt ccaggaatgt gggggtctgg gcctcagggg aggggaagaa ggtggacatt
      421 gcgggtatct acccccctgt gaccaccccc ttcactgcca ctgcagaggt ggactatggg
      481 aaactggagg agaatctgca caaactgggc accttcccct tccgaggctt cgtggtccag
      541 ggctccaatg gcgagtttcc tttcctgacc agcagtgagc gcctcgaggt ggtgagccgt
      601 gtgcgccagg ccatgcccaa gaacaggctc ctgctagctg gctccggatg cgagtccact
      661 caagccacag tggagatgac cgtcagcatg gcccaggtcg gggctgacgc ggccatggtg
      721 gtgacccctt gctactatcg tggccgcatg agcagtgcgg ccctcattca ccactacacc
      781 aaggttgctg atctctctcc aatccctgtg gtgctgtaca gtgtcccagc caacacaggg
      841 ctggacctgc ctgtggatgc agtggtcacg ctttcccagc acccgaatat tgtgggcatg
      901 aaggacagcg gtggtgatgt gaccaggatt gggctgattg ttcacaagac caggaagcag
      961 gattttcagg tgttggctgg atcggctggc tttctgatgg ccagctatgc cttgggagct
     1021 gtggggggcg tctgcgccct ggccaatgtc ctgggggctc aggtgtgcca gctggagcga
     1081 ctgtgctgca cggggcaatg ggaagatgcc cagaaactgc agcaccgcct cattgagcca
     1141 aacgctgcgg tgacccggcg ctttgggatc ccagggctga agaaaatcat ggactggttt
     1201 ggctactatg gaggcccctg ccgcgccccc ttgcaggagc tgagccccgc tgaggaggag
     1261 gcactgcgca tggatttcac cagcaacggc tggctctgag ggcaggcagg gtccatggct
     1321 ggcctgagcc catctcagcc tcctgccttg cacttgcagc ctgaagcgga gagcacaggg
     1381 ggatgagggt ggcaggcagc ggggagccga tagaggctcc tttgcctgct gtggtcctcc
     1441 aggcagcctt tcacaggcac gcccatgcat atctcctatt ctaacggccc ctgacctctc
     1501 ccttttggat cctaaactgt gtctctggtc tgaagactgg gaaggagcaa tttctcaatt
     1561 tatctttcta ctgtggatgc tttcctacgc cctgaggcac atgaagtcag aaaggaaggg
     1621 cagaggggca agtaggcaca gtaagggaat tttcttttct tttttttttt ttttgagaca
     1681 gagtttcact ctgtcaccca ggctggagtg caatggcatg atctcgcctc ctgggttcaa
     1741 gcgattctcc tgcctcagcc tcccgagtag ctgggattac aggcgcctgc caccacgccc
     1801 agctaatttt tgtattttta gcagagatgg ggtttcaccg tgttggccag gctggtcttg
     1861 aactcctgac ctcaggtgat ccaactgcct cggcctccca aagtgctggg attacagctg
     1921 tgagccactg cacccggccg ggaatttatc aaagggggga ctacttagat ttggggcttc
     1981 aaacctgagt ctagcacaat gcagctggag gccagggcta ctcctacaaa cccaagttct
     2041 gactccttcc agggaagtat cagcttaaga aacttgatca ggaaagtgac actggtcttt
     2101 caaagagccc tctttaccct cccatccctg ccctccacac tgcaagctgc attccagcca
     2161 caacgccctt ttctaaatct attttcattc atctcctatt ctggtctgta gccttgattc
     2221 caaccattga atgcacggag acagcccagt ggcttgtcag attggtaaat aatgacacct
     2281 ggtggataaa tgttacattc tagaagacta ttctggtcag cctaggtctg aaacactaag
     2341 gagacttggc ctgagatagg gccatccact tgcctacagg cactctgctt ttattattaa
     2401 aaatagtcac tttgttacta taataaaatt taacagaaaa aa
//
