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SQOR sulfide quinone oxidoreductase [ Homo sapiens (human) ]

Gene ID: 58472, updated on 10-Dec-2024

Summary

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Official Symbol
SQORprovided by HGNC
Official Full Name
sulfide quinone oxidoreductaseprovided by HGNC
Primary source
HGNC:HGNC:20390
See related
Ensembl:ENSG00000137767 MIM:617658; AllianceGenome:HGNC:20390
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
Also known as
SQR; SQRDL; CGI-44; PRO1975
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]
Expression
Broad expression in colon (RPKM 63.6), esophagus (RPKM 32.6) and 21 other tissues See more
Orthologs
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Genomic context

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See SQOR in Genome Data Viewer
Location:
15q21.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45631148..45691281)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43439309..43499454)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45923346..45983479)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2326 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9363 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:45880103-45880723 Neighboring gene developmental pluripotency associated 5 pseudogene 2 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45926371-45927366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9369 Neighboring gene uncharacterized LOC124903484 Neighboring gene uncharacterized LOC105370802 Neighboring gene small nucleolar RNA SNORD71

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. Friederich MW, et al. J Inherit Metab Dis, 2020 Sep. PMID 32160317, Free PMC Article
  2. X-Ray Structure of Human Sulfide:Quinone Oxidoreductase: Insights into the Mechanism of Mitochondrial Hydrogen Sulfide Oxidation. Jackson MR, et al. Structure, 2019 May 7. PMID 30905673, Free PMC Article
  3. Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria. Hildebrandt TM, et al. FEBS J, 2008 Jul. PMID 18494801
  4. Organization of the human mitochondrial hydrogen sulfide oxidation pathway. Libiad M, et al. J Biol Chem, 2014 Nov 7. PMID 25225291, Free PMC Article
  5. Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene. Cai X, et al. Osteoporos Int, 2018 Sep. PMID 29855663

See all (70) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
    Title: Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
  2. human SQOR contains unique features: an electropositive surface depression implicated as a binding site for sulfane sulfur acceptors and postulated to funnel negatively charged substrates to a hydrophilic H2S-oxidizing active site, which is connected to a hydrophobic internal tunnel that binds coenzyme Q
    Title: X-Ray Structure of Human Sulfide:Quinone Oxidoreductase: Insights into the Mechanism of Mitochondrial Hydrogen Sulfide Oxidation.
  3. The evidence supported the significant role of SQRDL in the etiology of postmenopausal osteoporosis and suggest that it may be a genetic risk factor for BMD and osteoporosis in Han Chinese postmenopausal women.
    Title: Genetic susceptibility of postmenopausal osteoporosis on sulfide quinone reductase-like gene.
  4. Hydrogen Sulfide Oxidation Catalyzed by Human Sulfide Quinone Oxidoreductase
    Title: Transient Kinetic Analysis of Hydrogen Sulfide Oxidation Catalyzed by Human Sulfide Quinone Oxidoreductase.
  5. Therefore, this study reveals the reduction in SQR activity as one of the pathomechanisms associated with Coenzyme Q deficiency syndrome.
    Title: CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.
  6. Data, including data from studies using recombinant SQR immobilized by embedding in nanodiscs, suggest that immobilized SQR exhibits enhanced catalytic performance; pre-steady-state kinetic characterization of immobilized SQR catalytic cycle indicates that glutathione serves as physiologically relevant sulfur acceptor during hydrogen sulfide oxidation.
    Title: H(2)S oxidation by nanodisc-embedded human sulfide quinone oxidoreductase.
  7. The I264T SQRDL polymorphism is associaated with osteoporosis in Korean postmenopausal women.
    Title: Association of the I264T variant in the sulfide quinone reductase-like (SQRDL) gene with osteoporosis in Korean postmenopausal women.
  8. SQR is part of the human mitochondrial hydrogen sulfide oxidation pathway
    Title: Organization of the human mitochondrial hydrogen sulfide oxidation pathway.
  9. Sulfide:quinone oxidoreductase catalyzes the first step in hydrogen sulfide metabolism and produces a sulfane sulfur metabolite.
    Title: Human sulfide:quinone oxidoreductase catalyzes the first step in hydrogen sulfide metabolism and produces a sulfane sulfur metabolite.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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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
Sulfide quinone oxidoreductase deficiency
MedGen: C5543168 OMIM: 619221 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of sulfide quinone reductase-like (SQRDL) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables FAD binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutathione-dependent sulfide quinone oxidoreductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables quinone binding IEA
Inferred from Electronic Annotation
more info
  
enables sulfide:quinone oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables sulfide:quinone oxidoreductase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in sulfide oxidation, using sulfide:quinone oxidoreductase IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in sulfide oxidation, using sulfide:quinone oxidoreductase IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
sulfide:quinone oxidoreductase, mitochondrial
Names
sulfide dehydrogenase like
sulfide quinone reductase-like
NP_001258142.1
NP_067022.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001271213.2 → NP_001258142.1  sulfide:quinone oxidoreductase, mitochondrial

    See identical proteins and their annotated locations for NP_001258142.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI240325, AK130140
    Consensus CDS
    CCDS10127.1
    UniProtKB/Swiss-Prot
    Q9UQM8, Q9Y6N5
    UniProtKB/TrEMBL
    B2R7T6, Q53HW7
    Related
    ENSP00000456019.1, ENST00000568606.5
    Conserved Domains (1) summary
    COG0446
    Location:56 → 398
    FadH2; NADPH-dependent 2,4-dienoyl-CoA reductase, sulfur reductase, or a related oxidoreductase [Lipid transport and metabolism]

  2. NM_021199.4 → NP_067022.1  sulfide:quinone oxidoreductase, mitochondrial

    See identical proteins and their annotated locations for NP_067022.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF042284, DA821218
    Consensus CDS
    CCDS10127.1
    UniProtKB/Swiss-Prot
    Q9UQM8, Q9Y6N5
    UniProtKB/TrEMBL
    B2R7T6, Q53HW7
    Related
    ENSP00000260324.7, ENST00000260324.12
    Conserved Domains (1) summary
    COG0446
    Location:56 → 398
    FadH2; NADPH-dependent 2,4-dienoyl-CoA reductase, sulfur reductase, or a related oxidoreductase [Lipid transport and metabolism]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    45631148..45691281
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    43439309..43499454
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6N5.1 GenPept UniProtKB/Swiss-Prot:Q9Y6N5

Gene LinkOut

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