ADAMTS1: Polycystic Ovarian Syndrome Database

ADAMTS1

Gene Information
 
Gene Symbol
ADAMTS1
 
Aliases
C3-C5, METH1
 
Entrez Gene ID
 
Gene Name
ADAM metallopeptidase with thrombospondin type 1 motif 1
 
Chromosomal Location
21q21.3
 
HGNC ID
 
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0007229 Biological process Integrin-mediated signaling pathway TAS 8995297
GO:0008285 Biological process Negative regulation of cell proliferation TAS 10438512
GO:1900087 Biological process Positive regulation of G1/S transition of mitotic cell cycle IGI 28890348
GO:1904707 Biological process Positive regulation of vascular smooth muscle cell proliferation IGI 28890348
GO:1904754 Biological process Positive regulation of vascular associated smooth muscle cell migration IGI 28890348
Protein Information
 
Protein Name
A disintegrin and metalloproteinase with thrombospondin motifs 1, ADAM-TS 1, ADAM-TS1, ADAMTS-1, METH-1, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1, human metalloproteinase with thrombospondin type 1 motifs
 
Function
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF05986 ADAM_spacer1
PF01562 Pep_M12B_propep
PF01421 Reprolysin
PF00090 TSP_1
Pathways
 
Reactome
 

 

Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins

Interactions
 
STRING MINT IntAct
ENSP00000362524 Q9UKU9
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Neoplasms
Lung Cancer
Breast Cancer
Liver Cancer
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
 
 
 
Direct 
Women with PCOS (n = 21) and normal ovulatory controls (n = 22) 
Altered levels of ADAMTS-1 and aggrecan may have a partial role in the etiopathogenesis of PCOS, and ADAMTS-1 could be a predictive marker for implantation success in PCOS patients. 
ADAMTS5, ADAMTS9, IL?17A, IL?23, IL?33,CRP, TNF-?, IL-1, IL-6, IL-18, ADAMTS16, IL-4 
Insulin resistance, impaired glucose tolerance (IGT), type 2 diabetes mellitus (DM type 2) , metabolic syndrome, malignancy and cardiovascular diseases. 
 
Rotterdam criteria 
Direct 
43 patients undergoing IVF treatment—21 diagnosed as PCOS and 22 diagnosed as normal ovulatory women (the control group) 
ADAMTS and IL molecules have a role in the pathogenesis of the PCOS. 

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