LOCUS       NM_017545               1757 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens hydroxyacid oxidase 1 (HAO1), mRNA.
ACCESSION   NM_017545
VERSION     NM_017545.3
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 1757)
  AUTHORS   Patel,Y.P., Patel,S.B., Patel,P., Parikh,A., Soni,S.,
            Srivastava,R., Raval,C., Ganpule,A.P., Desai,M.R., Patel,S.G. and
            Pandey,S.N.
  TITLE     Glycolate oxidase-1 gene variants influence the risk of
            hyperoxaluria and renal stone development
  JOURNAL   World J Urol 42 (1), 28 (2024)
   PUBMED   38214752
  REMARK    GeneRIF: Glycolate oxidase-1 gene variants influence the risk of
            hyperoxaluria and renal stone development.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1757)
  AUTHORS   Esmaeeli,M., Nimtz,M., Jansch,L., Ruddock,L.W. and Leimkuhler,S.
  TITLE     Mechanistic insights into the ROS-mediated inactivation of human
            aldehyde oxidase
  JOURNAL   FEBS Lett 597 (13), 1792-1801 (2023)
   PUBMED   37247262
  REMARK    GeneRIF: Mechanistic insights into the ROS-mediated inactivation of
            human aldehyde oxidase.
REFERENCE   3  (bases 1 to 1757)
  AUTHORS   Nakajima,M., Takahashi,A., Tsuji,T., Karasugi,T., Baba,H.,
            Uchida,K., Kawabata,S., Okawa,A., Shindo,S., Takeuchi,K.,
            Taniguchi,Y., Maeda,S., Kashii,M., Seichi,A., Nakajima,H.,
            Kawaguchi,Y., Fujibayashi,S., Takahata,M., Tanaka,T., Watanabe,K.,
            Kida,K., Kanchiku,T., Ito,Z., Mori,K., Kaito,T., Kobayashi,S.,
            Yamada,K., Takahashi,M., Chiba,K., Matsumoto,M., Furukawa,K.,
            Kubo,M., Toyama,Y. and Ikegawa,S.
  CONSRTM   Genetic Study Group of Investigation Committee on Ossification of
            the Spinal Ligaments
  TITLE     A genome-wide association study identifies susceptibility loci for
            ossification of the posterior longitudinal ligament of the spine
  JOURNAL   Nat Genet 46 (9), 1012-1016 (2014)
   PUBMED   25064007
REFERENCE   4  (bases 1 to 1757)
  AUTHORS   Zhang,B., Jia,W.H., Matsuda,K., Kweon,S.S., Matsuo,K., Xiang,Y.B.,
            Shin,A., Jee,S.H., Kim,D.H., Cai,Q., Long,J., Shi,J., Wen,W.,
            Yang,G., Zhang,Y., Li,C., Li,B., Guo,Y., Ren,Z., Ji,B.T., Pan,Z.Z.,
            Takahashi,A., Shin,M.H., Matsuda,F., Gao,Y.T., Oh,J.H., Kim,S.,
            Ahn,Y.O., Chan,A.T., Chang-Claude,J., Slattery,M.L., Gruber,S.B.,
            Schumacher,F.R., Stenzel,S.L., Casey,G., Kim,H.R., Jeong,J.Y.,
            Park,J.W., Li,H.L., Hosono,S., Cho,S.H., Kubo,M., Shu,X.O.,
            Zeng,Y.X. and Zheng,W.
  CONSRTM   Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO);
            Colorectal Transdisciplinary (CORECT) Study; Colon Cancer Family
            Registry (CCFR)
  TITLE     Large-scale genetic study in East Asians identifies six new loci
            associated with colorectal cancer risk
  JOURNAL   Nat Genet 46 (6), 533-542 (2014)
   PUBMED   24836286
REFERENCE   5  (bases 1 to 1757)
  AUTHORS   Jia,W.H., Zhang,B., Matsuo,K., Shin,A., Xiang,Y.B., Jee,S.H.,
            Kim,D.H., Ren,Z., Cai,Q., Long,J., Shi,J., Wen,W., Yang,G.,
            Delahanty,R.J., Ji,B.T., Pan,Z.Z., Matsuda,F., Gao,Y.T., Oh,J.H.,
            Ahn,Y.O., Park,E.J., Li,H.L., Park,J.W., Jo,J., Jeong,J.Y.,
            Hosono,S., Casey,G., Peters,U., Shu,X.O., Zeng,Y.X. and Zheng,W.
  CONSRTM   Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO);
            Colon Cancer Family Registry (CCFR)
  TITLE     Genome-wide association analyses in East Asians identify new
            susceptibility loci for colorectal cancer
  JOURNAL   Nat Genet 45 (2), 191-196 (2013)
   PUBMED   23263487
REFERENCE   6  (bases 1 to 1757)
  AUTHORS   Danpure,C.J.
  TITLE     Primary hyperoxaluria: from gene defects to designer drugs?
  JOURNAL   Nephrol Dial Transplant 20 (8), 1525-1529 (2005)
   PUBMED   15956068
REFERENCE   7  (bases 1 to 1757)
  AUTHORS   Deloukas,P., Matthews,L.H., Ashurst,J., Burton,J., Gilbert,J.G.,
            Jones,M., Stavrides,G., Almeida,J.P., Babbage,A.K., Bagguley,C.L.,
            Bailey,J., Barlow,K.F., Bates,K.N., Beard,L.M., Beare,D.M.,
            Beasley,O.P., Bird,C.P., Blakey,S.E., Bridgeman,A.M., Brown,A.J.,
            Buck,D., Burrill,W., Butler,A.P., Carder,C., Carter,N.P.,
            Chapman,J.C., Clamp,M., Clark,G., Clark,L.N., Clark,S.Y.,
            Clee,C.M., Clegg,S., Cobley,V.E., Collier,R.E., Connor,R.,
            Corby,N.R., Coulson,A., Coville,G.J., Deadman,R., Dhami,P.,
            Dunn,M., Ellington,A.G., Frankland,J.A., Fraser,A., French,L.,
            Garner,P., Grafham,D.V., Griffiths,C., Griffiths,M.N., Gwilliam,R.,
            Hall,R.E., Hammond,S., Harley,J.L., Heath,P.D., Ho,S., Holden,J.L.,
            Howden,P.J., Huckle,E., Hunt,A.R., Hunt,S.E., Jekosch,K.,
            Johnson,C.M., Johnson,D., Kay,M.P., Kimberley,A.M., King,A.,
            Knights,A., Laird,G.K., Lawlor,S., Lehvaslaiho,M.H., Leversha,M.,
            Lloyd,C., Lloyd,D.M., Lovell,J.D., Marsh,V.L., Martin,S.L.,
            McConnachie,L.J., McLay,K., McMurray,A.A., Milne,S., Mistry,D.,
            Moore,M.J., Mullikin,J.C., Nickerson,T., Oliver,K., Parker,A.,
            Patel,R., Pearce,T.A., Peck,A.I., Phillimore,B.J.,
            Prathalingam,S.R., Plumb,R.W., Ramsay,H., Rice,C.M., Ross,M.T.,
            Scott,C.E., Sehra,H.K., Shownkeen,R., Sims,S., Skuce,C.D.,
            Smith,M.L., Soderlund,C., Steward,C.A., Sulston,J.E., Swann,M.,
            Sycamore,N., Taylor,R., Tee,L., Thomas,D.W., Thorpe,A., Tracey,A.,
            Tromans,A.C., Vaudin,M., Wall,M., Wallis,J.M., Whitehead,S.L.,
            Whittaker,P., Willey,D.L., Williams,L., Williams,S.A., Wilming,L.,
            Wray,P.W., Hubbard,T., Durbin,R.M., Bentley,D.R., Beck,S. and
            Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 20
  JOURNAL   Nature 414 (6866), 865-871 (2001)
   PUBMED   11780052
REFERENCE   8  (bases 1 to 1757)
  AUTHORS   Williams,E., Cregeen,D. and Rumsby,G.
  TITLE     Identification and expression of a cDNA for human glycolate oxidase
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 246-248 (2000)
   PUBMED   10978532
REFERENCE   9  (bases 1 to 1757)
  AUTHORS   Jones,J.M., Morrell,J.C. and Gould,S.J.
  TITLE     Identification and characterization of HAOX1, HAOX2, and HAOX3,
            three human peroxisomal 2-hydroxy acid oxidases
  JOURNAL   J Biol Chem 275 (17), 12590-12597 (2000)
   PUBMED   10777549
REFERENCE   10 (bases 1 to 1757)
  AUTHORS   Kohler,S.A., Menotti,E. and Kuhn,L.C.
  TITLE     Molecular cloning of mouse glycolate oxidase. High evolutionary
            conservation and presence of an iron-responsive element-like
            sequence in the mRNA
  JOURNAL   J Biol Chem 274 (4), 2401-2407 (1999)
   PUBMED   9891009
  REMARK    Erratum:[J Biol Chem 1999 May 28;274(22):15966]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL021879.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 26, 2018 this sequence version replaced NM_017545.2.
            
            Summary: This gene is one of three related genes that have
            2-hydroxyacid oxidase activity yet differ in encoded protein amino
            acid sequence, tissue expression and substrate preference.
            Subcellular location of the encoded protein is the peroxisome.
            Specifically, this gene is expressed primarily in liver and
            pancreas and the encoded protein is most active on glycolate, a
            two-carbon substrate. The protein is also active on 2-hydroxy fatty
            acids. The transcript detected at high levels in pancreas may
            represent an alternatively spliced form or the use of a multiple
            near-consensus upstream polyadenylation site. [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 :: AL121739.1, AF231916.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162895 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378789.4/ ENSP00000368066.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-173               AL021879.3         17427-17599
            174-325             AL021879.3         23250-23401
            326-581             AL021879.3         43466-43721
            582-757             AL021879.3         51556-51731
            758-849             AL021879.3         62661-62752
            850-1008            AL021879.3         72021-72179
            1009-1078           AL021879.3         72295-72364
            1079-1757           AL021879.3         74222-74900
FEATURES             Location/Qualifiers
     source          1..1757
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p12.3"
     gene            1..1757
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /note="hydroxyacid oxidase 1"
                     /db_xref="GeneID:54363"
                     /db_xref="HGNC:HGNC:4809"
                     /db_xref="MIM:605023"
     exon            1..173
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..1149
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /EC_number="1.1.3.15"
                     /EC_number="1.2.3.5"
                     /note="(S)-2-hydroxy-acid oxidase; hydroxyacid oxidase
                     (glycolate oxidase) 1; glycolate oxidase 1; glyoxylate
                     oxidase"
                     /codon_start=1
                     /product="2-Hydroxyacid oxidase 1"
                     /protein_id="NP_060015.1"
                     /db_xref="CCDS:CCDS13100.1"
                     /db_xref="GeneID:54363"
                     /db_xref="HGNC:HGNC:4809"
                     /db_xref="MIM:605023"
                     /translation="MLPRLICINDYEQHAKSVLPKSIYDYYRSGANDEETLADNIAAF
                     SRWKLYPRMLRNVAETDLSTSVLGQRVSMPICVGATAMQRMAHVDGELATVRACQSLG
                     TGMMLSSWATSSIEEVAEAGPEALRWLQLYIYKDREVTKKLVRQAEKMGYKAIFVTVD
                     TPYLGNRLDDVRNRFKLPPQLRMKNFETSTLSFSPEENFGDDSGLAAYVAKAIDPSIS
                     WEDIKWLRRLTSLPIVAKGILRGDDAREAVKHGLNGILVSNHGARQLDGVPATIDVLP
                     EIVEAVEGKVEVFLDGGVRKGTDVLKALALGAKAVFVGRPIVWGLAFQGEKGVQDVLE
                     ILKEEFRLAMALSGCQNVKVIDKTLVRKNPLAVSKI"
     exon            174..325
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            326..581
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            582..757
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            758..849
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            850..1008
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1078
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     exon            1079..1757
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1736..1741
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /note="hexamer: AATAAA"
     polyA_site      1757
                     /gene="HAO1"
                     /gene_synonym="GO; GOX; GOX1; HAOX1"
                     /note="major polyA site"
ORIGIN      
        1 aacgaactcc atctgggata gcaataacct gtgaaaatgc tcccccggct aatttgtatc
       61 aatgattatg aacaacatgc taaatcagta cttccaaagt ctatatatga ctattacagg
      121 tctggggcaa atgatgaaga aactttggct gataatattg cagcattttc cagatggaag
      181 ctgtatccaa ggatgctccg gaatgttgct gaaacagatc tgtcgacttc tgttttagga
      241 cagagggtca gcatgccaat atgtgtgggg gctacggcca tgcagcgcat ggctcatgtg
      301 gacggcgagc ttgccactgt gagagcctgt cagtccctgg gaacgggcat gatgttgagt
      361 tcctgggcca cctcctcaat tgaagaagtg gcggaagctg gtcctgaggc acttcgttgg
      421 ctgcaactgt atatctacaa ggaccgagaa gtcaccaaga agctagtgcg gcaggcagag
      481 aagatgggct acaaggccat atttgtgaca gtggacacac cttacctggg caaccgtctg
      541 gatgatgtgc gtaacagatt caaactgccg ccacaactca ggatgaaaaa ttttgaaacc
      601 agtactttat cattttctcc tgaggaaaat tttggagacg acagtggact tgctgcatat
      661 gtggctaaag caatagaccc atctatcagc tgggaagata tcaaatggct gagaagactg
      721 acatcattgc caattgttgc aaagggcatt ttgagaggtg atgatgccag ggaggctgtt
      781 aaacatggct tgaatgggat cttggtgtcg aatcatgggg ctcgacaact cgatggggtg
      841 ccagccacta ttgatgttct gccagaaatt gtggaggctg tggaagggaa ggtggaagtc
      901 ttcctggacg ggggtgtgcg gaaaggcact gatgttctga aagctctggc tcttggcgcc
      961 aaggctgtgt ttgtggggag accaatcgtt tggggcttag ctttccaggg ggagaaaggt
     1021 gttcaagatg tcctcgagat actaaaggaa gaattccggt tggccatggc tctgagtggg
     1081 tgccagaatg tgaaagtcat cgacaagaca ttggtgagga aaaatccttt ggccgtttcc
     1141 aagatctgac agtgcacaat attttcccat ctgtattatt ttttttcagc atgtattact
     1201 tgacaaagag acactgtgca gagggtgacc acagtctgta attccccact tcaatacaaa
     1261 gggtgtcgtt cttttccaac aaaatagcaa tcccttttat ttcattgctt ttgacttttc
     1321 aatgggtgtc ctaggaacct tttagaaaga aatggacttt catcctggaa atatattaac
     1381 tgttaaaaag aaaacattga aaatgtgttt agacaacgtc atcccctggc aggctaaagt
     1441 gctgtatcct ttagtaaaat tggaggtagc aaacactaag gtgaaaagat aatgatctca
     1501 ttgtttatta acctgtattc tgtttacatg tctttaaaac agtggttctt aaattgtaag
     1561 ctcaggttca aagtgttggt aatgcctgat tcacaacttt gagaaggtag cactggagag
     1621 aattggaatg ggtggcggta attggtgata cttctttgaa tgtagatttc caatcacatc
     1681 tttagtgtct gaatatatcc aaatgtttta ggatgtatgt tacttcttag agagaaataa
     1741 agcatttttg ggaagaa
//
