Homo sapiens Gene: ADAMTS13 | |||||||||||||||||||||||
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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
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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] |
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Gene Information | |||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||
Genomic Location | Chromosome 9:133414358-133459402 | ||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||
Band | q34.2 | ||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||
REACTOME |
Post-translational protein modification pathway
O-linked glycosylation pathway
Metabolism of proteins pathway
O-glycosylation of TSR domain-containing proteins pathway
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KEGG | |||||||||||||||||||||||
INOH | |||||||||||||||||||||||
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Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||
UniGene | Hs.131433 | ||||||||||||||||||||||
RefSeq | NM_139025 NM_139026 NM_139027 | ||||||||||||||||||||||
HUGO | |||||||||||||||||||||||
OMIM | |||||||||||||||||||||||
CCDS | CCDS6970 CCDS6971 CCDS6972 | ||||||||||||||||||||||
HPRD | 04994 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | |||||||||||||||||||||||
GenPept | |||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||