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

Gene ID: 5768, updated on 23-Dec-2018

Summary

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
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

Genomic context

See QSOX1 in Genome Data Viewer
Location:
1q25.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (180154833..180198034)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (180123968..180169430)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene centrosomal protein 350 Neighboring gene ribosomal protein S24 pseudogene 5 Neighboring gene uncharacterized LOC105371636 Neighboring gene LIM homeobox 4 Neighboring gene LHX4 antisense RNA 1 Neighboring gene acyl-CoA binding domain containing 6 Neighboring gene uncharacterized LOC105371637

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23867, FLJ34858, DKFZp666A2410

Gene Ontology Provided by GOA

Function Evidence Code Pubs
flavin-linked sulfhydryl oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
flavin-linked sulfhydryl oxidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein disulfide isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein disulfide isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell redox homeostasis IEA
Inferred from Electronic Annotation
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
post-translational protein modification TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
integral component of Golgi membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
intercellular bridge IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001004128.2NP_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, CB137990, L42379, U97276
    Consensus CDS
    CCDS30950.1
    UniProtKB/Swiss-Prot
    O00391
    UniProtKB/TrEMBL
    A0A140VKE5, Q13876
    Related
    ENSP00000356572.5, ENST00000367600.5
    Conserved Domains (2) summary
    cd02992
    Location:40152
    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:406501
    Evr1_Alr; Erv1 / Alr family
  2. NM_002826.5NP_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
    UniProtKB/TrEMBL
    Q13876
    Related
    ENSP00000356574.3, ENST00000367602.7
    Conserved Domains (2) summary
    cd02992
    Location:40152
    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:406501
    Evr1_Alr; Erv1 / Alr family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    180154833..180198034
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
  2. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    180198009..180200725
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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