SQOR (sulfide quinone oxidoreductase)

2017-09-01 Affiliation

Identity

HGNC

SQOR

LOCATION

15q21.1

LOCUSID

58472

ALIAS

CGI-44,PRO1975,SQR,SQRDL

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 58472
MIM: 617658
HGNC: 20390
Ensembl: ENSG00000137767

Variants:

dbSNP: 58472
ClinVar: 58472
TCGA: ENSG00000137767
COSMIC: SQOR

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137767	ENST00000260324	Q9Y6N5
ENSG00000137767	ENST00000260324	A0A024R5X2
ENSG00000137767	ENST00000561493	H3BV36
ENSG00000137767	ENST00000561735	A0A1B0GXB4
ENSG00000137767	ENST00000563296	H3BT21
ENSG00000137767	ENST00000565227	H3BUD7
ENSG00000137767	ENST00000565997	H3BNP9
ENSG00000137767	ENST00000566934	H3BMS6
ENSG00000137767	ENST00000568606	Q9Y6N5
ENSG00000137767	ENST00000568606	A0A024R5X2

Pathways

Pathway	Source	External ID
Sulfur metabolism	KEGG	ko00920
Sulfur metabolism	KEGG	hsa00920
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Sulfur amino acid metabolism	REACTOME	R-HSA-1614635
Degradation of cysteine and homocysteine	REACTOME	R-HSA-1614558
Sulfide oxidation to sulfate	REACTOME	R-HSA-1614517

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32160317	2020	Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.	24
32160317	2020	Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.	24
30905673	2019	X-Ray Structure of Human Sulfide:Quinone Oxidoreductase: Insights into the Mechanism of Mitochondrial Hydrogen Sulfide Oxidation.	19
30905673	2019	X-Ray Structure of Human Sulfide:Quinone Oxidoreductase: Insights into the Mechanism of Mitochondrial Hydrogen Sulfide Oxidation.	19
29855663	2018	Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene.	9
29855663	2018	Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene.	9
27856619	2017	CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.	38
28512131	2017	H(2)S oxidation by nanodisc-embedded human sulfide quinone oxidoreductase.	37
27856619	2017	CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.	38
28512131	2017	H(2)S oxidation by nanodisc-embedded human sulfide quinone oxidoreductase.	37
26258864	2015	Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women.	9
26318450	2015	Transient Kinetic Analysis of Hydrogen Sulfide Oxidation Catalyzed by Human Sulfide Quinone Oxidoreductase.	33
26258864	2015	Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women.	9
26318450	2015	Transient Kinetic Analysis of Hydrogen Sulfide Oxidation Catalyzed by Human Sulfide Quinone Oxidoreductase.	33
25225291	2014	Organization of the human mitochondrial hydrogen sulfide oxidation pathway.	123

Citation

Dessen P

SQOR (sulfide quinone oxidoreductase)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/79813/sqor-(sulfide-quinone-oxidoreductase)