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    SUOX sulfite oxidase [ Homo sapiens (human) ]

    Gene ID: 6821, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_000456.3NP_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:185543
      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:86160
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    2. NM_001032386.2NP_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:185543
      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:86160
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
    3. NM_001032387.2NP_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:185543
      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:86160
      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)