LOCUS NP_000447 545 aa linear PRI 22-OCT-2008
DEFINITION sulfite oxidase [Homo sapiens].
ACCESSION NP_000447
VERSION NP_000447.2 GI:74099694
DBSOURCE REFSEQ: accession NM_000456.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 545)
AUTHORS Astashkin,A.V., Johnson-Winters,K., Klein,E.L., Feng,C.,
Wilson,H.L., Rajagopalan,K.V., Raitsimring,A.M. and Enemark,J.H.
TITLE Structural studies of the molybdenum center of the pathogenic R160Q
mutant of human sulfite oxidase by pulsed EPR spectroscopy and 17O
and 33S labeling
JOURNAL J. Am. Chem. Soc. 130 (26), 8471-8480 (2008)
PUBMED 18529001
REMARK GeneRIF: EPR study of the Mo(V) center of the pathogenic R160Q
mutant confirms the presence of three distinct species whose
relative abundances depend upon pH.
REFERENCE 2 (residues 1 to 545)
AUTHORS Hakonarson,H., Qu,H.Q., Bradfield,J.P., Marchand,L., Kim,C.E.,
Glessner,J.T., Grabs,R., Casalunovo,T., Taback,S.P.,
Frackelton,E.C., Eckert,A.W., Annaiah,K., Lawson,M.L., Otieno,F.G.,
Santa,E., Shaner,J.L., Smith,R.M., Onyiah,C.C., Skraban,R.,
Chiavacci,R.M., Robinson,L.J., Stanley,C.A., Kirsch,S.E.,
Devoto,M., Monos,D.S., Grant,S.F. and Polychronakos,C.
TITLE A novel susceptibility locus for type 1 diabetes on Chr12q13
identified by a genome-wide association study
JOURNAL Diabetes 57 (4), 1143-1146 (2008)
PUBMED 18198356
REFERENCE 3 (residues 1 to 545)
AUTHORS Dronov,R., Kurth,D.G., Mohwald,H., Spricigo,R., Leimkuhler,S.,
Wollenberger,U., Rajagopalan,K.V., Scheller,F.W. and Lisdat,F.
TITLE Layer-by-layer arrangement by protein-protein interaction of
sulfite oxidase and cytochrome c catalyzing oxidation of sulfite
JOURNAL J. Am. Chem. Soc. 130 (4), 1122-1123 (2008)
PUBMED 18177044
REMARK GeneRIF: analysis of protein-protein interaction of sulfite oxidase
and cytochrome c catalyzing oxidation of sulfite
REFERENCE 4 (residues 1 to 545)
AUTHORS Hoffmann,C., Ben-Zeev,B., Anikster,Y., Nissenkorn,A., Brand,N.,
Kuint,J. and Kushnir,T.
TITLE Magnetic resonance imaging and magnetic resonance spectroscopy in
isolated sulfite oxidase deficiency
JOURNAL J. Child Neurol. 22 (10), 1214-1221 (2007)
PUBMED 17940249
REMARK GeneRIF: Magnetic resonance imaging and MR spectroscopy
measurements may help differentiate isolated sulfite oxidase
deficiency from hypoxic-ischemic condition in patients in whom this
diagnosis is not clinically suspected.
REFERENCE 5 (residues 1 to 545)
AUTHORS Steinberg,K.K., Relling,M.V., Gallagher,M.L., Greene,C.N.,
Rubin,C.S., French,D., Holmes,A.K., Carroll,W.L., Koontz,D.A.,
Sampson,E.J. and Satten,G.A.
TITLE Genetic studies of a cluster of acute lymphoblastic leukemia cases
in Churchill County, Nevada
JOURNAL Environ. Health Perspect. 115 (1), 158-164 (2007)
PUBMED 17366837
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (residues 1 to 545)
AUTHORS Johnson,J.L., Coyne,K.E., Garrett,R.M., Zabot,M.T., Dorche,C.,
Kisker,C. and Rajagopalan,K.V.
TITLE Isolated sulfite oxidase deficiency: identification of 12 novel
SUOX mutations in 10 patients
JOURNAL Hum. Mutat. 20 (1), 74 (2002)
PUBMED 12112661
REFERENCE 7 (residues 1 to 545)
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 8 (residues 1 to 545)
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 9 (residues 1 to 545)
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 10 (residues 1 to 545)
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
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AU126450.1, CR610752.1 and
BC065193.1.
On Sep 2, 2005 this sequence version replaced gi:4557867.
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].
Transcript Variant: This variant (1) represents the longest
transcript.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..545
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="12"
/map="12q13.2"
Protein 1..545
/product="sulfite oxidase"
/EC_number="1.8.3.1"
/calculated_mol_wt=60152
CDS 1..545
/gene="SUOX"
/coded_by="NM_000456.2:327..1964"
/db_xref="CCDS:CCDS8901.2"
/db_xref="GeneID:6821"
/db_xref="HGNC:11460"
/db_xref="HPRD:06055"
/db_xref="MIM:606887"
ORIGIN
1 mlllhravvl rlqqacrlks ipsriciqac stndsfqpqr psltfsgdns stqgwrvmgt
61 llglgavlay qdhrcraaqe sthiytkeev sshtspetgi wvtlgsevfd vtefvdlhpg
121 gpsklmlaag gplepfwaly avhnqshvre llaqykigel npedkvaptv etsdpyaddp
181 vrhpalkvns qrpfnaeppp elltenyitp npifftrnhl pvpnldpdty rlhvvgapgg
241 qslslslddl hnfpryeitv tlqcagnrrs emtqvkevkg lewrtgaist arwagarlcd
301 vlaqaghqlc eteahvcfeg ldsdptgtay gasiplaram dpeaevllay emngqplprd
361 hgfpvrvvvp gvvgarhvkw lgrvsvqpee syshwqrrdy kgfspsvdwe tvdfdsapsi
421 qelpvqsait eprdgetves gevtikgyaw sgggravirv dvsldggltw qvakldgeeq
481 rprkawawrl wqlkapvpag qkelnivcka vddgynvqpd tvapiwnlrg vlsnawhrvh
541 vyvsp
//