U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

SUOX sulfite oxidase [ Homo sapiens (human) ]

Gene ID: 6821, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12q13.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55997276..56005525)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55964339..55972588)
105.20220307 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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Epilepsy in sulfite oxidase deficiency and related disorders: insights from neuroimaging and genetics. Hong SY, et al. Epilepsy Behav, 2023 Jun. PMID 37187015
  2. Predictive and Prognostic Value of SUOX Expression in Pancreatic Ductal Adenocarcinoma. Naito Y, et al. Anticancer Res, 2022 Aug. PMID 35896256
  3. Postmortem whole-genome sequencing on a dried blood spot identifies a novel homozygous SUOX variant causing isolated sulfite oxidase deficiency. Owen MJ, et al. Cold Spring Harb Mol Case Stud, 2021 Jun. PMID 34117075, Free PMC Article
  4. Impaired mitochondrial maturation of sulfite oxidase in a patient with severe sulfite oxidase deficiency. Bender D, et al. Hum Mol Genet, 2019 Sep 1. PMID 31127934
  5. High sulfite oxidase expression could predict postoperative biochemical recurrence in patients with prostate cancer. Kurose H, et al. Med Mol Morphol, 2019 Sep. PMID 30631948

See all (56) 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

Go to the top of the page Help

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

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
sulfite oxidase, mitochondrial
NP_000447.2
NP_001027558.1
NP_001027559.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_2023_10

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous