LOCUS       NM_012205               1256 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens 3-hydroxyanthranilate 3,4-dioxygenase (HAAO), mRNA.
ACCESSION   NM_012205
VERSION     NM_012205.3
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 1256)
  AUTHORS   Thiem,C.E., Stegmann,J.D., Hilger,A.C., Waffenschmidt,L.,
            Bendixen,C., Kollges,R., Schmiedeke,E., Schafer,F.M., Lacher,M.,
            Kosch,F., Grasshoff-Derr,S., Kabs,C., Neser,J., Jenetzky,E.,
            Fazaal,J., Schumacher,J., Hoefele,J., Ludwig,K.U. and Reutter,H.
  TITLE     Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in
            522 individuals with VATER/VACTERL, VACTER/VACTERL-like
            association, and isolated anorectal malformation
  JOURNAL   Birth Defects Res 114 (10), 478-486 (2022)
   PUBMED   35362267
  REMARK    GeneRIF: Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and
            KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like
            association, and isolated anorectal malformation.
REFERENCE   2  (bases 1 to 1256)
  AUTHORS   Higazi,A.M., Kamel,H.M., Abdel-Naeem,E.A., Abdullah,N.M.,
            Mahrous,D.M. and Osman,A.M.
  TITLE     Expression analysis of selected genes involved in tryptophan
            metabolic pathways in Egyptian children with Autism Spectrum
            Disorder and learning disabilities
  JOURNAL   Sci Rep 11 (1), 6931 (2021)
   PUBMED   33767242
  REMARK    GeneRIF: Expression analysis of selected genes involved in
            tryptophan metabolic pathways in Egyptian children with Autism
            Spectrum Disorder and learning disabilities.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1256)
  AUTHORS   Hornigold,N., Dunn,K.R., Craven,R.A., Zougman,A., Trainor,S.,
            Shreeve,R., Brown,J., Sewell,H., Shires,M., Knowles,M.,
            Fukuwatari,T., Maher,E.R., Burns,J., Bhattarai,S., Menon,M.,
            Brazma,A., Scelo,G., Feulner,L., Riazalhosseini,Y., Lathrop,M.,
            Harris,A., Selby,P.J., Banks,R.E. and Vasudev,N.S.
  TITLE     Dysregulation at multiple points of the kynurenine pathway is a
            ubiquitous feature of renal cancer: implications for tumour immune
            evasion
  JOURNAL   Br J Cancer 123 (1), 137-147 (2020)
   PUBMED   32390008
  REMARK    GeneRIF: Dysregulation at multiple points of the kynurenine pathway
            is a ubiquitous feature of renal cancer: implications for tumour
            immune evasion.
REFERENCE   4  (bases 1 to 1256)
  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   5  (bases 1 to 1256)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1256)
  AUTHORS   Calderone,V., Trabucco,M., Menin,V., Negro,A. and Zanotti,G.
  TITLE     Cloning of human 3-hydroxyanthranilic acid dioxygenase in
            Escherichia coli: characterisation of the purified enzyme and its
            in vitro inhibition by Zn2+
  JOURNAL   Biochim Biophys Acta 1596 (2), 283-292 (2002)
   PUBMED   12007609
REFERENCE   7  (bases 1 to 1256)
  AUTHORS   Heyes,M.P., Chen,C.Y., Major,E.O. and Saito,K.
  TITLE     Different kynurenine pathway enzymes limit quinolinic acid
            formation by various human cell types
  JOURNAL   Biochem J 326 (Pt 2) (Pt 2), 351-356 (1997)
   PUBMED   9291104
REFERENCE   8  (bases 1 to 1256)
  AUTHORS   Malherbe,P., Kohler,C., Da Prada,M., Lang,G., Kiefer,V.,
            Schwarcz,R., Lahm,H.W. and Cesura,A.M.
  TITLE     Molecular cloning and functional expression of human
            3-hydroxyanthranilic-acid dioxygenase
  JOURNAL   J Biol Chem 269 (19), 13792-13797 (1994)
   PUBMED   7514594
REFERENCE   9  (bases 1 to 1256)
  AUTHORS   Mark,P. and Dunwoodie,S.
  TITLE     Congenital NAD Deficiency Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   37499065
REFERENCE   10 (bases 1 to 1256)
  AUTHORS   Schwarcz,R., Okuno,E., White,R.J., Bird,E.D. and Whetsell,W.O. Jr.
  TITLE     3-Hydroxyanthranilate oxygenase activity is increased in the brains
            of Huntington disease victims
  JOURNAL   Proc Natl Acad Sci U S A 85 (11), 4079-4081 (1988)
   PUBMED   2967497
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI602406.1, Z29481.1 and
            CB850657.1.
            
            On Nov 23, 2018 this sequence version replaced NM_012205.2.
            
            Summary: 3-Hydroxyanthranilate 3,4-dioxygenase is a monomeric
            cytosolic protein belonging to the family of intramolecular
            dioxygenases containing nonheme ferrous iron. It is widely
            distributed in peripheral organs, such as liver and kidney, and is
            also present in low amounts in the central nervous system. HAAO
            catalyzes the synthesis of quinolinic acid (QUIN) from
            3-hydroxyanthranilic acid. QUIN is an excitotoxin whose toxicity is
            mediated by its ability to activate glutamate N-methyl-D-aspartate
            receptors. Increased cerebral levels of QUIN may participate in the
            pathogenesis of neurologic and inflammatory disorders. HAAO has
            been suggested to play a role in disorders associated with altered
            tissue levels of QUIN. [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 :: SRR5189664.102051.1,
                                           SRR5189652.214891.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2155590 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000294973.11/ ENSP00000294973.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-562               BI602406.1         17-578
            563-940             Z29481.1           556-933
            941-1256            CB850657.1         18-333              c
FEATURES             Location/Qualifiers
     source          1..1256
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p21"
     gene            1..1256
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /note="3-hydroxyanthranilate 3,4-dioxygenase"
                     /db_xref="GeneID:23498"
                     /db_xref="HGNC:HGNC:4796"
                     /db_xref="MIM:604521"
     exon            1..127
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             48..908
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /EC_number="1.13.11.6"
                     /note="3-hydroxyanthranilate oxygenase;
                     3-hydroxyanthranilic acid dioxygenase; HAD"
                     /codon_start=1
                     /product="3-hydroxyanthranilate 3,4-dioxygenase"
                     /protein_id="NP_036337.2"
                     /db_xref="CCDS:CCDS33187.1"
                     /db_xref="GeneID:23498"
                     /db_xref="HGNC:HGNC:4796"
                     /db_xref="MIM:604521"
                     /translation="MERRLGVRAWVKENRGSFQPPVCNKLMHQEQLKVMFIGGPNTRK
                     DYHIEEGEEVFYQLEGDMVLRVLEQGKHRDVVIRQGEIFLLPARVPHSPQRFANTVGL
                     VVERRRLETELDGLRYYVGDTMDVLFEKWFYCKDLGTQLAPIIQEFFSSEQYRTGKPI
                     PDQLLKEPPFPLSTRSIMEPMSLDAWLDSHHRELQAGTPLSLFGDTYETQVIAYGQGS
                     SEGLRQNVDVWLWQLEGSSVVTMGGRRLSLAPDDSLLVLAGTSYAWERTQGSVALSVT
                     QDPACKKPLG"
     exon            128..206
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            207..290
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            291..397
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            398..487
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            488..531
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            532..677
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            678..746
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            747..829
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     exon            830..1256
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1233..1238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /note="hexamer: AATAAA"
     polyA_site      1256
                     /gene="HAAO"
                     /gene_synonym="3-HAO; h3HAO; HAO; VCRL1"
                     /note="major polyA site"
ORIGIN      
        1 ctccgacggc gggaggacag cgctgcgagg aggcgcccgg gacagtcatg gagcgccgcc
       61 tgggagtgag ggcctgggtg aaggagaacc ggggctcctt ccagcccccg gtctgcaaca
      121 agctcatgca ccaggagcag ctcaaagtca tgttcatcgg aggccccaac accaggaagg
      181 actatcacat cgaagagggt gaagaggtat tttaccagct ggagggagac atggttctcc
      241 gagtcctgga gcaagggaaa caccgggatg tggtcattcg gcagggagag atattcctcc
      301 tgcctgccag ggtgccccac tcaccacaga ggtttgccaa caccgtgggg ctggtggttg
      361 agcgaaggcg gctggagacc gagctagatg ggctcaggta ctatgtgggc gacaccatgg
      421 acgttctgtt tgagaagtgg ttctactgca aggacctcgg cacgcagttg gcccccatca
      481 tccaggagtt cttcagctct gagcagtaca gaacaggaaa gcccatccct gaccagctgc
      541 tcaaggagcc accattccct ctgagcacac gatccatcat ggagcccatg tccctggatg
      601 cctggctgga cagccaccac agggagctgc aggcaggcac accactcagc ctgtttgggg
      661 acacctatga gacccaggtg atcgcctatg ggcaaggcag cagcgaaggc ctgagacaga
      721 atgtggacgt gtggctgtgg cagctggagg gctcctcggt ggtgacaatg gggggacggc
      781 gcctgagcct ggcccctgat gacagcctcc tggtgctagc tgggacctcg tatgcctggg
      841 agcgaacaca aggctctgtg gccctgtctg tgacccagga ccctgcctgc aagaagcccc
      901 tggggtgacc ctcttgccat ggcctgaagc agccacaggt gtgccaagca ccctcgagtg
      961 ccatccctgc caaacaactc tcccagcccc cactacctct ctgtgtactg ccgctgtgtc
     1021 ccccacagac ctgcacattg ttgtcaccca ccctcctgcc cttctcagcc cagatgccat
     1081 gcccctgggc gggcagcagc tccccatctt ctctggcaga ctcagcccac tgccttgcca
     1141 gtcttgccag gtggtctacc cccggccccg ctcctgccca ttcctctgtc cctgcagact
     1201 cagtgcagca cttccacacc aagaaggccc tcaataaagg cttcctgagg aacgca
//
