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    SUOX sulfite oxidase [ Homo sapiens (human) ]

    Gene ID: 6821, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SUOXprovided by HGNC
    Official Full Name
    sulfite oxidaseprovided by HGNC
    Primary source
    HGNC:HGNC:11460
    See related
    Ensembl:ENSG00000139531 MIM:606887; AllianceGenome:HGNC:11460
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 16.6), liver (RPKM 11.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUOX in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55997276..56005525)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55964339..55972588)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56391060..56399309)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6465 Neighboring gene cyclin dependent kinase 2 Neighboring gene RAB13, member RAS oncogene family pseudogene Neighboring gene RAB5B, member RAS oncogene family Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56390834-56391334 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:56394413-56394603 Neighboring gene Sharpr-MPRA regulatory region 2650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56399919-56400540 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4542 Neighboring gene uncharacterized LOC105369781 Neighboring gene IKAROS family zinc finger 4 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56435423-56436212 Neighboring gene ribosomal protein S26

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The pathogenic human sulfite oxidase mutants G473D and A208D are defective in intramolecular electron transfer. Feng C, et al. Biochemistry, 2005 Oct 25. PMID 16229463
    2. Sulfite Oxidase Catalyzes Single-Electron Transfer at Molybdenum Domain to Reduce Nitrite to Nitric Oxide. Wang J, et al. Antioxid Redox Signal, 2015 Aug 1. PMID 25314640, Free PMC Article
    3. Kinetic results for mutations of conserved residues H304 and R309 of human sulfite oxidase point to mechanistic complexities. Davis AC, et al. Metallomics, 2014 Sep. PMID 24968320, Free PMC Article
    4. SUOX is a promising diagnostic and prognostic biomarker for hepatocellular carcinoma. Jin GZ, et al. J Hepatol, 2013 Sep. PMID 23665285
    5. Effects of mutating aromatic surface residues of the heme domain of human sulfite oxidase on its heme midpoint potential, intramolecular electron transfer, and steady-state kinetics. Davis AC, et al. Dalton Trans, 2013 Mar 7. PMID 22975842

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors.
      Title: Mechanistic complexities of sulfite oxidase: An enzyme with multiple domains, subunits, and cofactors.
    2. Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics.
      Title: Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics.
    3. Predictive and Prognostic Value of SUOX Expression in Pancreatic Ductal Adenocarcinoma.
      Title: Predictive and Prognostic Value of SUOX Expression in Pancreatic Ductal Adenocarcinoma.
    4. Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
      Title: Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency.
    5. this study demonstrates the importance of the orchestrated maturation of SO and provides a first case of Moco-responsive iSOD.
      Title: Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency.
    6. High SUOX expression could predict postoperative biochemical recurrence in patients with prostate cancer after total prostatectomy.
      Title: High sulfite oxidase expression could predict postoperative biochemical recurrence in patients with prostate cancer.
    7. SUOX is negatively associated with the progression and proliferation of oral squamous cell carcinoma.
      Title: SUOX is negatively associated with multistep carcinogenesis and proliferation in oral squamous cell carcinoma.
    8. This is the first description of the prenatal neurodevelopment of brain disruption in isolated sulfite oxidase deficiency.
      Title: Prenatal brain disruption in isolated sulfite oxidase deficiency.
    9. Novel SUOX mutations were detected in 3 Sulfite oxidase deficiency cases
      Title: Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.
    10. Nitrite binds and reduces at the molybdenum site of mammalian sulfite oxidase, which may be allosterically regulated by heme and molybdenum domain interactions, and contributes to the mammalian nitrate-nitrite-NO signaling pathway in human fibroblasts.
      Title: Sulfite Oxidase Catalyzes Single-Electron Transfer at Molybdenum Domain to Reduce Nitrite to Nitric Oxide.
    Submit: New GeneRIF Correction See all GeneRIFs (31)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Sulfite oxidase deficiency
    MedGen: C0268624 OMIM: 272300 GeneReviews: Isolated Sulfite Oxidase Deficiency
    		Compare labs

    EBI GWAS Catalog

    Description
    A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.
    EBI GWAS Catalog
    Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables molybdenum ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables molybdopterin cofactor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sulfite oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in sulfur compound metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sulfur compound metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    sulfite oxidase, mitochondrial
    NP_000447.2
    NP_001027558.1
    NP_001027559.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008136.1 RefSeqGene

      Range
      5018..13267
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000456.3 → NP_000447.2  sulfite oxidase, mitochondrial

      See identical proteins and their annotated locations for NP_000447.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AC034102, AU126450, BC065193
      Consensus CDS
      CCDS8901.2
      UniProtKB/Swiss-Prot
      P51687
      UniProtKB/TrEMBL
      B2R6Y2
      Related
      ENSP00000377674.2, ENST00000394115.6
      Conserved Domains (2) summary
      cd02111
      Location:185 → 543
      eukary_SO_Moco; molybdopterin binding domain of sulfite oxidase (SO). SO catalyzes the terminal reaction in the oxidative degradation of the sulfur-containing amino acids cysteine and methionine. Common features of all known members of the sulfite oxidase (SO) family of ...
      pfam00173
      Location:86 → 160
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    2. NM_001032386.2 → NP_001027558.1  sulfite oxidase, mitochondrial

      See identical proteins and their annotated locations for NP_001027558.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AC034102, AU121557, AU126450, BC065193
      Consensus CDS
      CCDS8901.2
      UniProtKB/Swiss-Prot
      P51687
      UniProtKB/TrEMBL
      B2R6Y2
      Related
      ENSP00000266971.3, ENST00000266971.8
      Conserved Domains (2) summary
      cd02111
      Location:185 → 543
      eukary_SO_Moco; molybdopterin binding domain of sulfite oxidase (SO). SO catalyzes the terminal reaction in the oxidative degradation of the sulfur-containing amino acids cysteine and methionine. Common features of all known members of the sulfite oxidase (SO) family of ...
      pfam00173
      Location:86 → 160
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    3. NM_001032387.2 → NP_001027559.1  sulfite oxidase, mitochondrial

      See identical proteins and their annotated locations for NP_001027559.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1.
      Source sequence(s)
      AC034102, AU126450, BC065193
      Consensus CDS
      CCDS8901.2
      UniProtKB/Swiss-Prot
      P51687
      UniProtKB/TrEMBL
      B2R6Y2
      Related
      ENSP00000348440.4, ENST00000356124.8
      Conserved Domains (2) summary
      cd02111
      Location:185 → 543
      eukary_SO_Moco; molybdopterin binding domain of sulfite oxidase (SO). SO catalyzes the terminal reaction in the oxidative degradation of the sulfur-containing amino acids cysteine and methionine. Common features of all known members of the sulfite oxidase (SO) family of ...
      pfam00173
      Location:86 → 160
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      55997276..56005525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      55964339..55972588
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P51687.2 GenPept UniProtKB/Swiss-Prot:P51687

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