SQOR - sulfide quinone oxidoreductase Gene

Also Known as SQR; SQRDL; CGI-44; PRO1975

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 58472

About SQOR

Cytogenetic location: 15q21.1 Genomic coordinates (GRCh38): 15:45,631,148-45,691,281 (from NCBI)

This gene has 8 transcripts (splice variants), 222 orthologues and is associated with 1 phenotype. Broad expression in colon (RPKM 63.6), esophagus (RPKM 32.6) and 21 other tissues.

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 protein. [provided by RefSeq, Sep 2012]

SQOR Products (2)

mRNA Protein Name
NM_001271213.2 NP_001258142.1 sulfide:quinone oxidoreductase, mitochondrial
NM_021199.4 NP_067022.1 sulfide:quinone oxidoreductase, mitochondrial
Molecular Function GO Annotation Evidence References Source
enables glutathione-dependent sulfide quinone oxidoreductase activity IDA
IDA: Inferred from direct assay
25225291 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 GOA
enables sulfide:quinone oxidoreductase activity IDA
IDA: Inferred from direct assay
22852582 GOA
Biological Process GO Annotation Evidence References Source
involved in sulfide oxidation, using sulfide:quinone oxidoreductase IDA
IDA: Inferred from direct assay
22852582 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SQOR Protein Structure

Pyr_redox_2

Pyr_redox_2: Pyridine nucleotide-disulphide oxidoreductase (46 - 339)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 450 a.a.
Protein Preferred Names Protein Names

sulfide:quinone oxidoreductase, mitochondrial

  • sulfide dehydrogenase like

Related Diseases

Diseases Alias
Sulfide:Quinone Oxidoreductase Deficiency
  • SQORD

  • Sulfide Quinone Oxidoreductase Deficiency

Encephalopathy, Ethylmalonic
  • Ethylmalonic Encephalopathy

  • EE

  • Epema Syndrome

  • Encephalopathy, Petechiae, And Ethylmalonic Aciduria

  • Ethe1 Deficiency

  • Eme

  • Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Cystathioninuria
  • Cystathionase Deficiency

  • Gamma-Cystathionase Deficiency

  • Cystathione Gamma-Lyase Deficiency Syndrome

  • Cystathionine Gamma-Lyase Deficiency Syndrome

  • CSTNU

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Lactic Acidosis
  • Acidosis, Lactic

  • Acidosis Lactic

Interstitial Nephritis, Karyomegalic
  • Karyomegalic Interstitial Nephritis

  • KMIN

  • Kin

  • Systemic Karyomegaly

  • Karyomegalic Tubulointerstitial Nephritis

  • Ktn

Leber Congenital Amaurosis 1
  • LCA1

  • Amaurosis Congenita Of Leber I

  • Lca

  • Retinal Blindness, Congenital

  • Crb

  • Leber Congenital Amaurosis Type I

  • Leber Congenital Amaurosis, Type 1

  • Amaurosis Congenita Of Leber, Type 1

Inflammatory Bowel Disease
  • Inflammatory Bowel Diseases

  • Bowel Disease, Inflammatory

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SQOR RGD RGD:1564504
Bos taurus SQOR VGNC VGNC:101453
Macaca mulatta SQOR VGNC VGNC:99244
Mus musculus SQOR MGD MGI:1929899
Felis catus SQOR VGNC VGNC:101465
Canis familiaris SQOR VGNC VGNC:101445
Others SQOR NCBI