LOCUS       NM_001032386            2319 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens sulfite oxidase (SUOX), transcript variant 2, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001032386
VERSION     NM_001032386.2
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 2319)
  AUTHORS   Enemark,J.H.
  TITLE     Mechanistic complexities of sulfite oxidase: An enzyme with
            multiple domains, subunits, and cofactors
  JOURNAL   J Inorg Biochem 247, 112312 (2023)
   PUBMED   37441922
  REMARK    GeneRIF: Mechanistic complexities of sulfite oxidase: An enzyme
            with multiple domains, subunits, and cofactors.
REFERENCE   2  (bases 1 to 2319)
  AUTHORS   Hong,S.Y. and Lin,C.H.
  TITLE     Epilepsy in sulfite oxidase deficiency and related disorders:
            insights from neuroimaging and genetics
  JOURNAL   Epilepsy Behav 143, 109246 (2023)
   PUBMED   37187015
  REMARK    GeneRIF: Epilepsy in sulfite oxidase deficiency and related
            disorders: insights from neuroimaging and genetics.
            Review article
REFERENCE   3  (bases 1 to 2319)
  AUTHORS   Naito,Y., Akiba,J., Kinjo,Y., Sadashima,E., Ogata,T., Yano,Y.,
            Tanigawa,M., Nakayama,M., Kawahara,A., Okabe,Y., Sakai,H.,
            Hisaka,T., Akagi,Y. and Yano,H.
  TITLE     Predictive and Prognostic Value of SUOX Expression in Pancreatic
            Ductal Adenocarcinoma
  JOURNAL   Anticancer Res 42 (8), 4145-4151 (2022)
   PUBMED   35896256
  REMARK    GeneRIF: Predictive and Prognostic Value of SUOX Expression in
            Pancreatic Ductal Adenocarcinoma.
REFERENCE   4  (bases 1 to 2319)
  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   5  (bases 1 to 2319)
  AUTHORS   Owen,M.J., Lenberg,J., Feigenbaum,A., Gold,J., Chau,K.,
            Bezares-Orin,Z., Ding,Y., Chowdhury,S. and Kingsmore,S.F.
  TITLE     Postmortem whole-genome sequencing on a dried blood spot identifies
            a novel homozygous SUOX variant causing isolated sulfite oxidase
            deficiency
  JOURNAL   Cold Spring Harb Mol Case Stud 7 (3), a006091 (2021)
   PUBMED   34117075
  REMARK    GeneRIF: Postmortem whole-genome sequencing on a dried blood spot
            identifies a novel homozygous SUOX variant causing isolated sulfite
            oxidase deficiency.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2319)
  AUTHORS   Edwards,M.C., Johnson,J.L., Marriage,B., Graf,T.N., Coyne,K.E.,
            Rajagopalan,K.V. and MacDonald,I.M.
  TITLE     Isolated sulfite oxidase deficiency: review of two cases in one
            family
  JOURNAL   Ophthalmology 106 (10), 1957-1961 (1999)
   PUBMED   10519592
REFERENCE   7  (bases 1 to 2319)
  AUTHORS   Garrett,R.M., Johnson,J.L., Graf,T.N., Feigenbaum,A. and
            Rajagopalan,K.V.
  TITLE     Human sulfite oxidase R160Q: identification of the mutation in a
            sulfite oxidase-deficient patient and expression and
            characterization of the mutant enzyme
  JOURNAL   Proc Natl Acad Sci U S A 95 (11), 6394-6398 (1998)
   PUBMED   9600976
REFERENCE   8  (bases 1 to 2319)
  AUTHORS   Kisker,C., Schindelin,H., Pacheco,A., Wehbi,W.A., Garrett,R.M.,
            Rajagopalan,K.V., Enemark,J.H. and Rees,D.C.
  TITLE     Molecular basis of sulfite oxidase deficiency from the structure of
            sulfite oxidase
  JOURNAL   Cell 91 (7), 973-983 (1997)
   PUBMED   9428520
REFERENCE   9  (bases 1 to 2319)
  AUTHORS   Garrett,R.M., Bellissimo,D.B. and Rajagopalan,K.V.
  TITLE     Molecular cloning of human liver sulfite oxidase
  JOURNAL   Biochim Biophys Acta 1262 (2-3), 147-149 (1995)
   PUBMED   7599189
REFERENCE   10 (bases 1 to 2319)
  AUTHORS   Bindu,P.S., Nagappa,M., Bharath,R.D. and Taly,A.B.
  TITLE     Isolated Sulfite Oxidase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28933809
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU126450.1, AU121557.1,
            AC034102.32 and BC065193.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001032386.1.
            
            Summary: Sulfite oxidase is a homodimeric protein localized to the
            intermembrane space of mitochondria. Each subunit contains a heme
            domain and a molybdopterin-binding domain. The enzyme catalyzes the
            oxidation of sulfite to sulfate, the final reaction in the
            oxidative degradation of the sulfur amino acids cysteine and
            methionine. Sulfite oxidase deficiency results in neurological
            abnormalities which are often fatal at an early age. Alternative
            splicing results in multiple transcript variants encoding identical
            proteins. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 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 :: SRR3476690.232437.1,
                                           SRR1660803.17067.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000266971.8/
                                                  ENSP00000266971.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AU126450.1         18-28
            12-628              AU121557.1         1-617
            629-2280            AC034102.32        155813-157464       c
            2281-2319           BC065193.1         2220-2258
FEATURES             Location/Qualifiers
     source          1..2319
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.2"
     gene            1..2319
                     /gene="SUOX"
                     /note="sulfite oxidase"
                     /db_xref="GeneID:6821"
                     /db_xref="HGNC:HGNC:11460"
                     /db_xref="MIM:606887"
     exon            1..64
                     /gene="SUOX"
                     /inference="alignment:Splign:2.1.0"
     exon            65..173
                     /gene="SUOX"
                     /inference="alignment:Splign:2.1.0"
     exon            174..233
                     /gene="SUOX"
                     /inference="alignment:Splign:2.1.0"
     CDS             184..1821
                     /gene="SUOX"
                     /EC_number="1.8.3.1"
                     /codon_start=1
                     /product="sulfite oxidase, mitochondrial"
                     /protein_id="NP_001027558.1"
                     /db_xref="CCDS:CCDS8901.2"
                     /db_xref="GeneID:6821"
                     /db_xref="HGNC:HGNC:11460"
                     /db_xref="MIM:606887"
                     /translation="MLLLHRAVVLRLQQACRLKSIPSRICIQACSTNDSFQPQRPSLT
                     FSGDNSSTQGWRVMGTLLGLGAVLAYQDHRCRAAQESTHIYTKEEVSSHTSPETGIWV
                     TLGSEVFDVTEFVDLHPGGPSKLMLAAGGPLEPFWALYAVHNQSHVRELLAQYKIGEL
                     NPEDKVAPTVETSDPYADDPVRHPALKVNSQRPFNAEPPPELLTENYITPNPIFFTRN
                     HLPVPNLDPDTYRLHVVGAPGGQSLSLSLDDLHNFPRYEITVTLQCAGNRRSEMTQVK
                     EVKGLEWRTGAISTARWAGARLCDVLAQAGHQLCETEAHVCFEGLDSDPTGTAYGASI
                     PLARAMDPEAEVLLAYEMNGQPLPRDHGFPVRVVVPGVVGARHVKWLGRVSVQPEESY
                     SHWQRRDYKGFSPSVDWETVDFDSAPSIQELPVQSAITEPRDGETVESGEVTIKGYAW
                     SGGGRAVIRVDVSLDGGLTWQVAKLDGEEQRPRKAWAWRLWQLKAPVPAGQKELNIVC
                     KAVDDGYNVQPDTVAPIWNLRGVLSNAWHRVHVYVSP"
     exon            234..411
                     /gene="SUOX"
                     /inference="alignment:Splign:2.1.0"
     exon            412..2319
                     /gene="SUOX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2294..2299
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SUOX"
                     /note="hexamer: AATAAA"
     polyA_site      2319
                     /gene="SUOX"
                     /note="major polyA site"
ORIGIN      
        1 gccccttctc gagaactcgc agagctgggc tggtaaaatt gcagtgctga agacactgga
       61 cccgcaaaag gctgtccctc ccaaacctgg gattctgggc tcactgagtt cacctgcgag
      121 tcagccctac ctgcactgct ctggtctagt acaaacaggc tgctggcatt gaggtctgct
      181 acaatgctgc tgctgcacag agctgtggtc ctcaggctcc aacaggcctg cagactcaag
      241 tcaatcccct caaggatctg cattcaggcc tgctccacaa atgattcatt tcagccccag
      301 cgccccagcc tcaccttctc tggtgataac tccagcaccc agggatggag agtcatgggg
      361 accctattag gtctcggtgc agtgttggcc tatcaggacc atcggtgtag ggctgctcag
      421 gagtcaacac acatatacac taaggaggaa gtgagttccc acaccagccc tgagactggg
      481 atctgggtga ctctgggctc tgaggtcttt gatgtcacag aatttgtgga cctacatcca
      541 ggggggcctt caaagctgat gctagcagct gggggtcccc tagagccctt ctgggccctc
      601 tatgctgttc acaaccagtc ccatgtgcgt gagttactgg ctcagtacaa gattggggag
      661 ctgaatcctg aagacaaggt agcccccacc gtggagacct ctgaccctta tgctgatgat
      721 cctgtacgtc acccagccct gaaggtcaac agccagcggc cctttaatgc agagcctccc
      781 cctgagctgc tgacagaaaa ctacatcaca cccaacccta tcttcttcac ccggaaccat
      841 ctgcctgtac ctaacctgga tccagacacc tatcgcttac acgtagtagg agcacctggg
      901 ggtcagtcac tgtctctttc cctggatgac ttgcacaact ttcccaggta cgagatcaca
      961 gtcactctgc agtgtgccgg caaccgacgc tctgagatga ctcaggtcaa agaagtaaaa
     1021 ggtctggagt ggagaacagg agccatcagc actgcacgct gggctggggc acggctctgt
     1081 gatgtgttag cccaggctgg ccaccaactc tgtgaaactg aggcccacgt ctgctttgag
     1141 ggactggact cagaccctac tgggactgcc tatggagcat ccatccctct ggctcgggcc
     1201 atggaccctg aagctgaggt cctgctggca tatgagatga atgggcagcc tctgccacgt
     1261 gaccacggct tccctgtgcg tgtggtggtt cctggagtgg tgggtgcccg ccatgtcaaa
     1321 tggctgggca gagtgagtgt gcagccagag gaaagttaca gccactggca acggcgggat
     1381 tacaaaggct tctctccatc tgtggactgg gagactgtag attttgactc tgctccatcc
     1441 attcaggaac ttcctgtcca gtcggccatc acagagcccc gggatggaga gactgtagaa
     1501 tcaggggagg tgaccatcaa gggctatgca tggagtggtg gtggcagggc tgtgatccgg
     1561 gtggatgtgt ctctggatgg gggcctaacc tggcaggtgg ctaagctgga tggagaggaa
     1621 cagcgcccca ggaaggcctg ggcatggcgt ctgtggcagt tgaaagcccc tgtgccagct
     1681 ggacaaaagg aactgaacat tgtttgtaag gctgtggatg atggttacaa tgtgcagcca
     1741 gacaccgtgg ccccaatctg gaacctgcga ggtgttctca gcaatgcctg gcatcgtgtc
     1801 catgtctatg tctccccatg agcatggaaa ggagccacct ccaccccttt ccccacccat
     1861 tagcctcact gcttcagaaa aatctttccc acctttcaac ttcttggatc acaactctgg
     1921 ccttcctaag ccatacccaa gtacacatat agcacatttc acccaaggac cttccctctt
     1981 tggacactat gttacatacc cctcttggcc tttgaacctg tgccaggaag tgtgagctgt
     2041 tacagcaagg ggctagaagt gaaaaaagta attctggaga caagcactat tttctcttcc
     2101 taccccacct ccatttctaa tgcctactgc catcaaggcc ttgttttgct tttctttttg
     2161 gattgttcag agaaatgtgt gtggcatgtg taagaaaagt gtatatacta tcttatacta
     2221 cctctccagg ttgccagaga gttgcgagga gagcaagggg cacaaccgtc tccctttata
     2281 gttctacttt tctaataaat agtctgttta agatcataa
//
