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SQOR sulfide quinone oxidoreductase [ Homo sapiens (human) ]

Gene ID: 58472, updated on 5-May-2024

Summary

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

See SQOR in Genome Data Viewer
Location:
15q21.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45631148..45691281)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43439309..43499454)
105.20220307 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 
Component Evidence Code Pubs
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

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_001271213.2NP_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:56398
    FadH2; NADPH-dependent 2,4-dienoyl-CoA reductase, sulfur reductase, or a related oxidoreductase [Lipid transport and metabolism]
  2. NM_021199.4NP_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:56398
    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_2023_10

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)