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

Gene ID: 5768, updated on 10-Dec-2024

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; 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
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Genomic context

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

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

EBI GWAS Catalog

Description
Genetic variants associated with disordered eating.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001004128.3NP_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: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, Q59G29, Q5T2X0, Q8TDL6, Q8WVP4
    UniProtKB/TrEMBL
    A8K477, A8K4C2
    Related
    ENSP00000356574.3, ENST00000367602.8
    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: 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_047426230.1XP_047282186.1  sulfhydryl oxidase 1 isoform X1

    UniProtKB/TrEMBL
    A8K477, A8K4C2

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_054337903.1XP_054193878.1  sulfhydryl oxidase 1 isoform X1

    UniProtKB/TrEMBL
    A8K477, A8K4C2

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.