ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)

2007-02-01  

Identity

HGNC
LOCATION
9q34.2
LOCUSID
ALIAS
ADAM-TS13,ADAMTS-13,C9orf8,VWFCP,vWF-CP
FUSION GENES

Other Information

Locus ID:

NCBI: 11093
MIM: 604134
HGNC: 1366
Ensembl: ENSG00000160323

Variants:

dbSNP: 11093
ClinVar: 11093
TCGA: ENSG00000160323
COSMIC: ADAMTS13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160323ENST00000355699Q76LX8
ENSG00000160323ENST00000356589Q76LX8
ENSG00000160323ENST00000371910A0A0C4DFV8
ENSG00000160323ENST00000371911A0A0B4J229
ENSG00000160323ENST00000371916E7EV88
ENSG00000160323ENST00000371929Q76LX8
ENSG00000160323ENST00000474918F6V803
ENSG00000160323ENST00000495234A0A0B4J229

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-glycosylation of TSR domain-containing proteinsREACTOMER-HSA-5173214
DiseaseREACTOMER-HSA-1643685
Diseases of glycosylationREACTOMER-HSA-3781865
Diseases associated with O-glycosylation of proteinsREACTOMER-HSA-3906995
Defective B3GALTL causes Peters-plus syndrome (PpS)REACTOMER-HSA-5083635

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
115863512001Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.300
123933972002ADAMTS-13 rapidly cleaves newly secreted ultralarge von Willebrand factor multimers on the endothelial surface under flowing conditions.230
187259992008Platelet glycoprotein Ibalpha forms catch bonds with human WT vWF but not with type 2B von Willebrand disease vWF.129
161892762006Severe secondary deficiency of von Willebrand factor-cleaving protease (ADAMTS13) in patients with sepsis-induced disseminated intravascular coagulation: its correlation with development of renal failure.84
158552802005Localization of ADAMTS13 to the stellate cells of human liver.70
121814892002Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.65
217153062011Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor.64
179012482008Platelet-VWF complexes are preferred substrates of ADAMTS13 under fluid shear stress.61
128695062003ADAMTS-13 cysteine-rich/spacer domains are functionally essential for von Willebrand factor cleavage.58
198807492009Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor.55

Citation

Dessen P

ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif 13)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45779/adamts13