Gene Gene information from NCBI Gene database.
Entrez ID 5768
Gene name Quiescin sulfhydryl oxidase 1
Gene symbol QSOX1
Synonyms (NCBI Gene)
Q6QSCN6
Chromosome 1
Chromosome location 1q25.2
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 play
miRNA miRNA information provided by mirtarbase database.
251
miRTarBase ID miRNA Experiments Reference
MIRT022900 hsa-miR-124-3p Microarray 18668037
MIRT051544 hsa-let-7e-5p CLASH 23622248
MIRT722484 hsa-miR-4301 HITS-CLIP 19536157
MIRT722483 hsa-miR-532-3p HITS-CLIP 19536157
MIRT722482 hsa-miR-6859-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IDA 17331072, 29757379
GO:0000139 Component Golgi membrane IEA
GO:0003756 Function Protein disulfide isomerase activity IBA
GO:0003756 Function Protein disulfide isomerase activity IDA 17331072, 18393449
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603120 9756 ENSG00000116260
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00391
Protein name Sulfhydryl oxidase 1 (hQSOX) (EC 1.8.3.2) (Quiescin Q6)
Protein function Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide (PubMed:17331072, PubMed:18393449, PubMed:23704371, PubMed:23867277, PubMed:30367560). Plays a role in dis
PDB 3LLI , 3LLK , 3Q6O , 4IJ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00085 Thioredoxin 42 147 Thioredoxin Domain
PF18108 QSOX_Trx1 162 269 QSOX Trx-like domain Domain
PF18371 FAD_SOX 295 396 Flavin adenine dinucleotide (FAD)-dependent sulfhydryl oxidase Domain
PF04777 Evr1_Alr 405 504 Erv1 / Alr family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, placenta, lung, liver, skeletal muscle, pancreas and very weakly in brain and kidney. {ECO:0000269|PubMed:10708601, ECO:0000269|Ref.8}.
Sequence
MRRCNSGSGPPPSLLLLLLWLLAVPGANAAPRSALYSPSDPLTLLQADTVRGAVLGSRSA
WAVEFFASWCGHCIAFAPTWKALAEDVKAWRPALYLAALDCAEETNSAVCRDFNIPGFPT
VRFFKAFTKNGSGAVFPVAGADVQTLR
ERLIDALESHHDTWPPACPPLEPAKLEEIDGFF
ARNNEEYLALIFEKGGSYLGREVALDLSQHKGVAVRRVLNTEANVVRKFGVTDFPSCYLL
FRNGSVSRVPVLMESRSFYTAYLQRLSGL
TREAAQTTVAPTTANKIAPTVWKLADRSKIY
MADLESALHYILRIEVGRFPVLEGQRLVALKKFVAVLAKYFPGRPLVQNFLHSVNEWLKR
QKRNKIPYSFFKTALDDRKEGAVLAKKVNWIGCQGS
EPHFRGFPCSLWVLFHFLTVQAAR
QNVDHSQEAAKAKEVLPAIRGYVHYFFGCRDCASHFEQMAAASMHRVGSPNAAVLWLWSS
HNRVNARLAGAPSEDPQFPKVQWP
PRELCSACHNERLDVPVWDVEATLNFLKAHFSPSNI
ILDFPAAGSAARRDVQNVAAAPELAMGALELESRNSTLDPGKPEMMKSPTNTTPHVPAEG
PEASRPPKLHPGLRAAPGQEPPEHMAELQRNEQEQPLGQWHLSKRDTGAALLAESRAEKN
RLWGPLEVRRVGRSSKQLVDIPEGQLEARAGRGRGQWLQVLGGGFSYLDISLCVGLYSLS
FMGLLAMYTYFQAKIRALKGHAGHPAA
Sequence length 747
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Platelet degranulation
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EATING DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 29757379
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 23098186
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 26976451
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23098186, 23460839, 23536962, 23680167, 24359107, 24475161
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30336636
★☆☆☆☆
Found in Text Mining only
Ductal Carcinoma Ductal Carcinoma BEFREE 23098186
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 28977922
★☆☆☆☆
Found in Text Mining only
Liver Cirrhosis Liver Cirrhosis BEFREE 28977922
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 23098186, 23460839, 23536962, 23680167, 24359107, 24475161
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of lung Lung Cancer BEFREE 30336636
★☆☆☆☆
Found in Text Mining only