Homo sapiens Gene: ADAMTS13
Summary
InnateDB Gene IDBG-91330.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ADAMTS13
Gene Name ADAM metallopeptidase with thrombospondin type 1 motif, 13
Synonyms ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP;
Species Homo sapiens
Ensembl Gene ENSG00000160323
Encoded Proteins
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 enzyme encoded by this gene is the von Willebrand Factor (vWF)-cleaving protease, which is responsible for cleaving at the site of Tyr842-Met843 of the vWF molecule. A deficiency of this enzyme is associated with thrombotic thrombocytopenic purpura. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:133414358-133459402
Strand Forward strand
Band q34.2
Transcripts
ENST00000371929 ENSP00000360997
ENST00000355699 ENSP00000347927
ENST00000356589 ENSP00000348997
ENST00000371916 ENSP00000360984
ENST00000371911 ENSP00000360979
ENST00000371910 ENSP00000360978
ENST00000485925
ENST00000495234 ENSP00000435274
ENST00000474918 ENSP00000435305
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0005178 integrin binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0006508 proteolysis
GO:0007160 cell-matrix adhesion
GO:0007229 integrin-mediated signaling pathway
GO:0009100 glycoprotein metabolic process
GO:0009636 response to toxic substance
GO:0016485 protein processing
GO:0030168 platelet activation
GO:0034341 response to interferon-gamma
GO:0034612 response to tumor necrosis factor
GO:0043171 peptide catabolic process
GO:0070670 response to interleukin-4
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0009986 cell surface
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Post-translational protein modification pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
O-glycosylation of TSR domain-containing proteins pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q76LX8
TrEMBL
UniProt Splice Variant
Entrez Gene 11093
UniGene Hs.131433
RefSeq NM_139025 NM_139026 NM_139027
HUGO HGNC:1366
OMIM 604134
CCDS CCDS6970 CCDS6971 CCDS6972
HPRD 04994
IMGT
EMBL AB069698 AF414401 AJ305314 AJ420810 AL136809 AL158826 AL593848 AY055376 AY358118 DQ422807
GenPept AAL11095 AAL17652 AAQ88485 ABD72606 BAB69487 CAB66743 CAC83682 CAD12729 CAI12850 CAI12851 CAI12852
RNA Seq Atlas 11093