SQOR
entrez
58472
canonical
uniprot
Q9Y6N5
canonical
ensembl
ENSG00000137767
resolver
ensp
ENSP00000260324
resolver
ensp
ENSP00000456019
resolver
ensp
ENSP00000558152
resolver
ensp
ENSP00000558153
resolver
ensp
ENSP00000558154
resolver
ensp
ENSP00000558155
resolver
ensp
ENSP00000558156
resolver
ensp
ENSP00000558158
resolver
ensp
ENSP00000558159
resolver
ensp
ENSP00000558160
resolver
ensp
ENSP00000558163
resolver
ensp
ENSP00000558166
resolver
ensp
ENSP00000558167
resolver
ensp
ENSP00000558168
resolver
ensp
ENSP00000558169
resolver
ensp
ENSP00000558170
resolver
ensp
ENSP00000558171
resolver
ensp
ENSP00000558172
resolver
ensp
ENSP00000558173
resolver
ensp
ENSP00000613798
resolver
ensp
ENSP00000613799
resolver
ensp
ENSP00000613804
resolver
ensp
ENSP00000613806
resolver
ensp
ENSP00000613807
resolver
enst
ENST00000260324
resolver
enst
ENST00000568606
resolver
enst
ENST00000888093
resolver
enst
ENST00000888094
resolver
enst
ENST00000888095
resolver
enst
ENST00000888096
resolver
enst
ENST00000888097
resolver
enst
ENST00000888099
resolver
enst
ENST00000888100
resolver
enst
ENST00000888101
resolver
enst
ENST00000888104
resolver
enst
ENST00000888107
resolver
enst
ENST00000888108
resolver
enst
ENST00000888109
resolver
enst
ENST00000888110
resolver
enst
ENST00000888111
resolver
enst
ENST00000888112
resolver
enst
ENST00000888113
resolver
enst
ENST00000888114
resolver
enst
ENST00000943739
resolver
enst
ENST00000943740
resolver
enst
ENST00000943745
resolver
enst
ENST00000943747
resolver
enst
ENST00000943748
resolver
genesymbol
SQOR
resolver
genesymbol_syn
SQRDL
resolver
hgnc
HGNC:20390
resolver
uniprot
Q9UQM8
resolver
uniprot_entry
SQOR_HUMAN
resolver
uniprot_sec
Q9UQM8
resolver
amino_acid_sequence
MVPLVAVVSGPRAQLFACLLRLGTQQVGPLQLHTGASHAARNHYEVLVLGGGSGGITMAARMKRKVGAENVAIVEPSERHFYQPIWTLVGAGAKQLSSSGRPTASVIPSGVEWIKARVTELNPDKNCIHTDDDEKISYRYLIIALGIQLDYEKIKGLPEGFAHPKIGSNYSVKTVEKTWKALQDFKEGNAIFTFPNTPVKCAGAPQKIMYLSEAYFRKTGKRSKANIIFNTSLGAIFGVKKYADALQEIIQERNLTVNYKKNLIEVRADKQEAVFENLDKPGETQVISYEMLHVTPPMSPPDVLKTSPVADAAGWVDVDKETLQHRRYPNVFGIGDCTNLPTSKTAAAVAAQSGILDRTISVIMKNQTPTKKYDGYTSCPLVTGYNRVILAEFDYKAEPLETFPFDQSKERLSMYLMKADLMPFLYWNMMLRGYWGGPAFLRKLFHLGMS
uniprot
proteins
disease_involvement
DISEASE: Sulfide:quinone oxidoreductase deficiency (SQORD) [MIM:619221]: An autosomal recessive disorder of hydrogen sulfide metabolism characterized by a variable phenotype. Some patients present with encephalopathy, clinical manifestations of Leigh syndrome, and may have a fatal disease course. Others are asymptomatic. Additional features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues. {ECO:0000269|PubMed:32160317}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.8.5.8
uniprot
proteins
function
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 cyanide (in vitro) (PubMed:22852582). It is believed the in vivo electron acceptor is glutathione (PubMed:25225291, PubMed:29715001). {ECO:0000269|PubMed:22852582, ECO:0000269|PubMed:25225291, ECO:0000269|PubMed:29715001, ECO:0000269|PubMed:32160317}.
uniprot
proteins
mass_dalton
49961
uniprot
proteins
protein_family
SQRD family
uniprot
proteins
pubmed
10224084
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22852582
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25225291
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29715001
uniprot
proteins
pubmed
30905673
uniprot
proteins
pubmed
32160317
uniprot
proteins
sequence_length
450
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
uniprot
proteins