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    QSOX1 quiescin sulfhydryl oxidase 1 [ Homo sapiens (human) ]

    Gene ID: 5768, updated on 2-Nov-2024

    Summary

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    Official Symbol
    QSOX1provided by HGNC
    Official Full Name
    quiescin sulfhydryl oxidase 1provided by HGNC
    Primary source
    HGNC:HGNC:9756
    See related
    Ensembl:ENSG00000116260 MIM:603120; AllianceGenome:HGNC:9756
    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
    Q6; QSCN6
    Summary
    This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in gall bladder (RPKM 86.5), stomach (RPKM 79.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See QSOX1 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (180154869..180204030)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (179510604..179559769)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (180124004..180173165)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 350 Neighboring gene ribosomal protein S24 pseudogene 5 Neighboring gene MPRA-validated peak480 silencer Neighboring gene uncharacterized LOC105371636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180134845-180135502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180135503-180136160 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180136161-180136816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180136817-180137474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180162034-180162705 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1382 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_1383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1593 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180213501-180214248 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180217481-180217981 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180218267-180219247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180223097-180223616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:180227074-180227843 Neighboring gene Sharpr-MPRA regulatory region 8966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:180240649-180241576 Neighboring gene LIM homeobox 4 Neighboring gene LHX4 antisense RNA 1 Neighboring gene MPRA-validated peak481 silencer Neighboring gene MPRA-validated peak482 silencer Neighboring gene acyl-CoA binding domain containing 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:180295724-180296224 Neighboring gene MPRA-validated peak483 silencer Neighboring gene MPRA-validated peak484 silencer Neighboring gene uncharacterized LOC124904702

    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. Aberrant m5C hypermethylation mediates intrinsic resistance to gefitinib through NSUN2/YBX1/QSOX1 axis in EGFR-mutant non-small-cell lung cancer.
      Title: Aberrant m5C hypermethylation mediates intrinsic resistance to gefitinib through NSUN2/YBX1/QSOX1 axis in EGFR-mutant non-small-cell lung cancer.
    2. Quiescin sulfhydryl oxidase 1 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by driving EGFR endosomal trafficking and inhibiting NRF2 activation.
      Title: Quiescin sulfhydryl oxidase 1 promotes sorafenib-induced ferroptosis in hepatocellular carcinoma by driving EGFR endosomal trafficking and inhibiting NRF2 activation.
    3. QSOX1 promotes mitochondrial apoptosis of hepatocellular carcinoma cells during anchorage-independent growth by inhibiting lipid synthesis.
      Title: QSOX1 promotes mitochondrial apoptosis of hepatocellular carcinoma cells during anchorage-independent growth by inhibiting lipid synthesis.
    4. Hypoxia-induced upregulation of QSOX1 and a consequent elevation in intracellular H2O2 increased apoptosis in placentae of pregnancies complicated by Preeclampsia.
      Title: QSOX1 regulates trophoblastic apoptosis in preeclampsia through hydrogen peroxide production.
    5. mutation of a conserved cis-proline amino acid, analogous to a mutation used to trap substrates of a bacterial disulfide catalyst, has a dramatic effect on the physiological function of the mammalian disulfide catalyst QSOX1.
      Title: cis-Proline mutants of quiescin sulfhydryl oxidase 1 with altered redox properties undermine extracellular matrix integrity and cell adhesion in fibroblast cultures.
    6. QSOX1 might be a lung cancer tissue-derived biomarker and be involved in the promotion of lung cancers, and thus can be a therapeutic target for lung cancers.
      Title: Quiescin Sulfhydryl Oxidase 1 (QSOX1) Secreted by Lung Cancer Cells Promotes Cancer Metastasis.
    7. This study provides a key example of the effect of glycosylation on Golgi exit and contributes to an understanding of late secretory sorting and quality control.
      Title: Quiescin sulfhydryl oxidase 1 (QSOX1) glycosite mutation perturbs secretion but not Golgi localization.
    8. High QSOX1 expression correlates with tumor invasiveness
      Title: High expression of QSOX1 is associated with tumor invasiveness and high grades groups in prostate cancer.
    9. High QSOX1 expression is a strong and independent factor of reduced survival in breast cancer and may represent a biomarker for aggressive disease and a potential treatment target
      Title: QSOX1 expression is associated with aggressive tumor features and reduced survival in breast carcinomas.
    10. Data indicate ebselen as an in vitro inhibitor of quiescin sulfhydryl oxidase 1 (QSOX1) enzymatic activity.
      Title: Ebselen inhibits QSOX1 enzymatic activity and suppresses invasion of pancreatic and renal cancer cell lines.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ23867, FLJ34858, DKFZp666A2410

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables FAD binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables flavin-dependent sulfhydryl oxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables flavin-dependent sulfhydryl oxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein disulfide isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein disulfide isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in extracellular matrix assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intercellular bridge IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in specific granule lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in tertiary granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sulfhydryl oxidase 1
    Names
    quiescin Q6 sulfhydryl oxidase 1
    testis tissue sperm-binding protein Li 62n
    thiol oxidase 1
    NP_001004128.1
    NP_002817.2
    XP_047282186.1
    XP_054193878.1

    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_001004128.3 → NP_001004128.1  sulfhydryl oxidase 1 isoform b precursor

      See identical proteins and their annotated locations for NP_001004128.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding segment compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      AF361868, BC017692, BX382719, L42379, U97276
      Consensus CDS
      CCDS30950.1
      UniProtKB/TrEMBL
      A0A140VKE5, A8K477, A8K4C2
      Related
      ENSP00000356572.5, ENST00000367600.5
      Conserved Domains (2) summary
      cd02992
      Location:40 → 152
      PDI_a_QSOX; PDIa family, Quiescin-sulfhydryl oxidase (QSOX) subfamily; QSOX is a eukaryotic protein containing an N-terminal redox active TRX domain, similar to that of PDI, and a small C-terminal flavin adenine dinucleotide (FAD)-binding domain homologous to the ...
      pfam04777
      Location:406 → 501
      Evr1_Alr; Erv1 / Alr family

    2. NM_002826.5 → NP_002817.2  sulfhydryl oxidase 1 isoform a precursor

      See identical proteins and their annotated locations for NP_002817.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL390718, BC017692, BX382719, L42379, U97276
      Consensus CDS
      CCDS1337.1
      UniProtKB/Swiss-Prot
      O00391, Q59G29, Q5T2X0, Q8TDL6, Q8WVP4
      UniProtKB/TrEMBL
      A8K477, A8K4C2
      Related
      ENSP00000356574.3, ENST00000367602.8
      Conserved Domains (2) summary
      cd02992
      Location:40 → 152
      PDI_a_QSOX; PDIa family, Quiescin-sulfhydryl oxidase (QSOX) subfamily; QSOX is a eukaryotic protein containing an N-terminal redox active TRX domain, similar to that of PDI, and a small C-terminal flavin adenine dinucleotide (FAD)-binding domain homologous to the ...
      pfam04777
      Location:406 → 501
      Evr1_Alr; Erv1 / Alr family

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      180154869..180204030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426230.1 → XP_047282186.1  sulfhydryl oxidase 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      179510604..179559769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337903.1 → XP_054193878.1  sulfhydryl oxidase 1 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_026900.1: Suppressed sequence

      Description
      NR_026900.1: This RefSeq was removed because it is primarily UTR sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00391.3 GenPept UniProtKB/Swiss-Prot:O00391

    Gene LinkOut

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

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