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    SQOR sulfide quinone oxidoreductase [ Homo sapiens (human) ]

    Gene ID: 58472, updated on 2-Nov-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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    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
    		Compare labs

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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