InnateDB Protein
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IDBP-91346.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ADAMTS13
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Protein Name
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ADAM metallopeptidase with thrombospondin type 1 motif, 13
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Synonyms
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ADAM-TS13; ADAMTS-13; C9orf8; vWF-CP; VWFCP;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000360978
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InnateDB Gene
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IDBG-91330 (ADAMTS13)
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Protein Structure
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Function |
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation. {ECO:0000269PubMed:19880749}.
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Subcellular Localization |
Secreted {ECO:0000269PubMed:12791682}. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats.
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Disease Associations |
Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]: A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. recessive. {ECO:0000269PubMed:11586351, ECO:0000269PubMed:12181489, ECO:0000269PubMed:12393505, ECO:0000269PubMed:12614216, ECO:0000269PubMed:12753286, ECO:0000269PubMed:14512317, ECO:0000269PubMed:14563640, ECO:0000269PubMed:15009458, ECO:0000269PubMed:15126318, ECO:0000269PubMed:15327386, ECO:0000269PubMed:16449289, ECO:0000269PubMed:16453338, ECO:0000269PubMed:16796708, ECO:0000269PubMed:16807643, ECO:0000269PubMed:17003922, ECO:0000269PubMed:18443791, ECO:0000269PubMed:19055667, ECO:0000269PubMed:19116307, ECO:0000269PubMed:22075512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Plasma. Expressed primarily in liver. {ECO:0000269PubMed:11574066}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000859
CUB domain
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PFAM |
PF00431
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PRINTS |
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PIRSF |
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SMART |
SM00042
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TIGRFAMs |
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Modification |
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SwissProt |
Q76LX8
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PhosphoSite |
PhosphoSite-Q76LX8
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
11093
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UniGene |
Hs.131433
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RefSeq |
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HUGO |
HGNC:1366
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OMIM |
604134
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CCDS |
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HPRD |
04994
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IMGT |
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EMBL |
AB069698
AF414401
AJ305314
AJ420810
AL136809
AL158826
AL593848
AY055376
AY358118
DQ422807
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GenPept |
AAL11095
AAL17652
AAQ88485
ABD72606
BAB69487
CAB66743
CAC83682
CAD12729
CAI12850
CAI12851
CAI12852
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