SQOR (sulfide quinone oxidoreductase)

Gene

• Entrez ID: 58472
• Gene name: Sulfide quinone oxidoreductase
• Gene symbol: SQOR
• Synonyms (NCBI Gene): CGI-44, PRO1975, SQR, SQRDL
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same prote

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006790	Process	Sulfur compound metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0048038	Function	Quinone binding	IEA
GO:0070221	Process	Sulfide oxidation, using sulfide:quinone oxidoreductase	IBA
GO:0070221	Process	Sulfide oxidation, using sulfide:quinone oxidoreductase	IDA	22852582
GO:0070224	Function	Sulfide:quinone oxidoreductase activity	IBA
GO:0070224	Function	Sulfide:quinone oxidoreductase activity	IDA	22852582
GO:0070224	Function	Sulfide:quinone oxidoreductase activity	IEA
GO:0071949	Function	FAD binding	IBA
GO:0106436	Function	Glutathione-dependent sulfide quinone oxidoreductase activity	IDA	25225291
GO:0106436	Function	Glutathione-dependent sulfide quinone oxidoreductase activity	IEA

Other IDs

• MIM: 617658
• HGNC: 20390
• e!Ensembl: ENSG00000137767

Protein

• UniProt ID: Q9Y6N5
• Protein name: Sulfide:quinone oxidoreductase, mitochondrial (SQOR) (EC 1.8.5.8) (Sulfide dehydrogenase-like) (Sulfide quinone oxidoreductase)
• Protein function: Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone-10, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or c
• PDB: 6MO6, 6MP5, 6OI5, 6OI6, 6OIB, 6OIC, 6WH6, 8DHK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07992	Pyr_redox_2	44 → 192	Pyridine nucleotide-disulphide oxidoreductase	Domain

• Sequence:

  MVPLVAVVSGPRAQLFACLLRLGTQQVGPLQLHTGASHAARNHYEVLVLGGGSGGITMAA
  RMKRKVGAENVAIVEPSERHFYQPIWTLVGAGAKQLSSSGRPTASVIPSGVEWIKARVTE
  LNPDKNCIHTDDDEKISYRYLIIALGIQLDYEKIKGLPEGFAHPKIGSNYSVKTVEKTWK
  ALQDFKEGNAIFTFPNTPVKCAGAPQKIMYLSEAYFRKTGKRSKANIIFNTSLGAIFGVK
  KYADALQEIIQERNLTVNYKKNLIEVRADKQEAVFENLDKPGETQVISYEMLHVTPPMSP
  PDVLKTSPVADAAGWVDVDKETLQHRRYPNVFGIGDCTNLPTSKTAAAVAAQSGILDRTI
  SVIMKNQTPTKKYDGYTSCPLVTGYNRVILAEFDYKAEPLETFPFDQSKERLSMYLMKAD
  LMPFLYWNMMLRGYWGGPAFLRKLFHLGMS

• Sequence length: 450

Pathways

KEGG:

Sulfur metabolism
Metabolic pathways

Reactome:

Sulfide oxidation to sulfate

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Sulfide quinone oxidoreductase deficiency	Pathogenic	rs762256045, rs755490059	RCV001310242 RCV001310243	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQOR-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Brain Diseases	Associate	32160317	★☆☆☆☆ Found in Text Mining only
HIV Infections	Associate	31779701	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	32160317	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Associate	32160317	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Associate	26258864	★☆☆☆☆ Found in Text Mining only