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ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_139025 Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_139026 Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_139027 Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol ADAMTS13
Entrez Gene ID 11093
Full Name ADAM metallopeptidase with thrombospondin type 1 motif, 13
Synonyms ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
General protein information
Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 13
Names
A disintegrin and metalloproteinase with thrombospondin motifs 13
vWF-cleaving protease
von Willebrand factor-cleaving protease
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
NP_620594.1
NP_620595.1
NP_620596.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q34

Summary This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013].
Disorder

MIM: 604134

Thrombotic thrombocytopenic purpura, familial, 274150 (3)

mRNA Protein Product Sequence Price Select
NM_139025, 525313719 NP_620594, 21265034 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein ORF Sequence $1500.00
NM_139026, 525313726 NP_620595, 21265043 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein ORF Sequence $1500.00
NM_139027, 525313722 NP_620596, 73695936 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein ORF Sequence $1500.00
Reactome
REACT_17015Metabolism of proteins
REACT_22161Post-translational protein modification
REACT_200727O-linked glycosylation
REACT_200626O-glycosylation of TSR domain-containing proteins
Homo sapiens (human)ADAMTS13NP_620594.1
Pan troglodytes (chimpanzee)ADAMTS13XP_003312433.1
Canis lupus familiaris (dog)ADAMTS13NP_001229641.1
Bos taurus (cattle)ADAMTS13XP_002691670.2
Mus musculus (house mouse)Adamts13NP_001001322.1
Rattus norvegicus (Norway rat)LOC102554393XP_006233941.1
Gallus gallus (chicken)ADAMTS13XP_415435.4
Danio rerio (zebrafish)adamts13XP_002663267.3
Xenopus (Silurana) tropicalis (western clawed frog)adamts13XP_002942962.2
Process
IDNameEvidence
GO:0006508proteolysisIDA
GO:0007160cell-matrix adhesionNAS
GO:0007229integrin-mediated signaling pathwayNAS
GO:0009100glycoprotein metabolic processNAS
GO:0016485protein processingTAS
GO:0030168platelet activationNAS
GO:0034341response to interferon-gammaIEA
GO:0034612response to tumor necrosis factorIEA
GO:0043171peptide catabolic processIDA
GO:0070670response to interleukin-4IEA
Component
IDNameEvidence
GO:0005578proteinaceous extracellular matrixTAS
GO:0005615extracellular spaceIEA
GO:0009986cell surfaceNAS
Function
IDNameEvidence
GO:0004222metalloendopeptidase activityIEA
GO:0005178integrin bindingTAS
GO:0005509calcium ion bindingTAS
GO:0005515protein bindingIPI
GO:0008237metallopeptidase activityTAS
GO:0008270zinc ion bindingTAS
GeneCards ADAMTS13
UniProt Q76LX8
Vega OTTHUMG00000020876
MIM 604134
Ensembl ENSG00000160323
HGNC 1366
HPRD 04994

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the ADAMTS13 gene?

The ADAMTS13 gene provides instructions for making an enzyme that is involved in blood clotting. After an injury, clots normally protect the body by sealing off damaged blood vessels and preventing further blood loss.

The ADAMTS13 enzyme processes a large protein called von Willebrand factor, which also plays a role in clot formation. The unprocessed form of von Willebrand factor interacts easily with cell fragments called platelets, which circulate in the bloodstream and are essential for blood clotting. The factor helps platelets stick together and adhere to the walls of blood vessels, forming temporary clots. The ADAMTS13 enzyme cuts von Willebrand factor into smaller pieces. By processing von Willebrand factor in this way, the enzyme prevents it from triggering the formation of unnecessary blood clots.

Interactant

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