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ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif, 13)

Identity

Other namesADAM-TS13
ADAMTS-13
C9orf8
VWFCP
vWF-CP
HGNC (Hugo) ADAMTS13
LocusID (NCBI) 11093
Atlas_Id 45779
Location 9q34.2
Location_base_pair Starts at 136287120 and ends at 136324525 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ADAMTS13   1366
Cards
Entrez_Gene (NCBI)ADAMTS13  11093  ADAM metallopeptidase with thrombospondin type 1 motif, 13
GeneCards (Weizmann)ADAMTS13
Ensembl hg19 (Hinxton)ENSG00000160323 [Gene_View]  chr9:136287120-136324525 [Contig_View]  ADAMTS13 [Vega]
Ensembl hg38 (Hinxton)ENSG00000160323 [Gene_View]  chr9:136287120-136324525 [Contig_View]  ADAMTS13 [Vega]
ICGC DataPortalENSG00000160323
TCGA cBioPortalADAMTS13
AceView (NCBI)ADAMTS13
Genatlas (Paris)ADAMTS13
WikiGenes11093
SOURCE (Princeton)ADAMTS13
Genomic and cartography
GoldenPath hg19 (UCSC)ADAMTS13  -     chr9:136287120-136324525 +  9q34.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ADAMTS13  -     9q34.2   [Description]    (hg38-Dec_2013)
EnsemblADAMTS13 - 9q34.2 [CytoView hg19]  ADAMTS13 - 9q34.2 [CytoView hg38]
Mapping of homologs : NCBIADAMTS13 [Mapview hg19]  ADAMTS13 [Mapview hg38]
OMIM274150   604134   
Gene and transcription
Genbank (Entrez)AB069698 AF414400 AF414401 AJ011374 AJ305314
RefSeq transcript (Entrez)NM_139025 NM_139026 NM_139027 NM_139028
RefSeq genomic (Entrez)NC_000009 NC_018920 NG_011934 NT_008470 NW_004929367 NW_009646201
Consensus coding sequences : CCDS (NCBI)ADAMTS13
Cluster EST : UnigeneHs.131433 [ NCBI ]
CGAP (NCI)Hs.131433
Alternative Splicing : Fast-db (Paris)GSHG0030547
Alternative Splicing GalleryENSG00000160323
Gene ExpressionADAMTS13 [ NCBI-GEO ]     ADAMTS13 [ SEEK ]   ADAMTS13 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ76LX8 (Uniprot)
NextProtQ76LX8  [Medical]
With graphics : InterProQ76LX8
Splice isoforms : SwissVarQ76LX8 (Swissvar)
Catalytic activity : Enzyme3.4.24.87 [ Enzyme-Expasy ]   3.4.24.873.4.24.87 [ IntEnz-EBI ]   3.4.24.87 [ BRENDA ]   3.4.24.87 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)ADAM_MEPRO (PS50215)    TSP1 (PS50092)    ZINC_PROTEASE (PS00142)   
Domains : Interpro (EBI)CUB_dom    MetalloPept_cat_dom    Peptidase_M12B    Peptidase_M12B_ADAM-TS    Thrombospondin_1_rpt   
Related proteins : CluSTrQ76LX8
Domain families : Pfam (Sanger)Reprolysin (PF01421)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam01421    pfam00090   
Domain families : Smart (EMBL)TSP1 (SM00209)  
DMDM Disease mutations11093
Blocks (Seattle)Q76LX8
PDB (SRS)3GHM    3GHN    3VN4   
PDB (PDBSum)3GHM    3GHN    3VN4   
PDB (IMB)3GHM    3GHN    3VN4   
PDB (RSDB)3GHM    3GHN    3VN4   
Human Protein AtlasENSG00000160323
Peptide AtlasQ76LX8
HPRD04994
IPIIPI00449028   IPI00453457   IPI00427822   IPI00645987   IPI00334996   IPI01018932   IPI00160506   IPI00843978   
Protein Interaction databases
DIP (DOE-UCLA)Q76LX8
IntAct (EBI)Q76LX8
FunCoupENSG00000160323
BioGRIDADAMTS13
IntegromeDBADAMTS13
STRING (EMBL)ADAMTS13
Ontologies - Pathways
QuickGOQ76LX8
Ontology : AmiGOmetalloendopeptidase activity  integrin binding  calcium ion binding  protein binding  proteinaceous extracellular matrix  extracellular space  endoplasmic reticulum lumen  protein O-linked glycosylation  proteolysis  cell-matrix adhesion  integrin-mediated signaling pathway  metallopeptidase activity  zinc ion binding  glycoprotein metabolic process  response to toxic substance  cell surface  protein processing  platelet activation  response to interferon-gamma  response to tumor necrosis factor  protein O-linked fucosylation  peptide catabolic process  post-translational protein modification  cellular protein metabolic process  response to interleukin-4  
Ontology : EGO-EBImetalloendopeptidase activity  integrin binding  calcium ion binding  protein binding  proteinaceous extracellular matrix  extracellular space  endoplasmic reticulum lumen  protein O-linked glycosylation  proteolysis  cell-matrix adhesion  integrin-mediated signaling pathway  metallopeptidase activity  zinc ion binding  glycoprotein metabolic process  response to toxic substance  cell surface  protein processing  platelet activation  response to interferon-gamma  response to tumor necrosis factor  protein O-linked fucosylation  peptide catabolic process  post-translational protein modification  cellular protein metabolic process  response to interleukin-4  
Protein Interaction DatabaseADAMTS13
DoCM (Curated mutations)ADAMTS13
Wikipedia pathwaysADAMTS13
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerADAMTS13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ADAMTS13
dbVarADAMTS13
ClinVarADAMTS13
1000_GenomesADAMTS13 
Exome Variant ServerADAMTS13
SNP (GeneSNP Utah)ADAMTS13
SNP : HGBaseADAMTS13
Genetic variants : HAPMAPADAMTS13
Genomic Variants (DGV)ADAMTS13 [DGVbeta]
Mutations
ICGC Data PortalADAMTS13 
TCGA Data PortalADAMTS13 
Tumor PortalADAMTS13
Somatic Mutations in Cancer : COSMICADAMTS13 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)9:136287120-136324525
CONAN: Copy Number AnalysisADAMTS13 
Mutations and Diseases : HGMDADAMTS13
OMIM274150    604134   
MedgenADAMTS13
NextProtQ76LX8 [Medical]
GENETestsADAMTS13
Disease Genetic AssociationADAMTS13
Huge Navigator ADAMTS13 [HugePedia]  ADAMTS13 [HugeCancerGEM]
snp3D : Map Gene to Disease11093
DGIdb (Drug Gene Interaction db)ADAMTS13
General knowledge
Homologs : HomoloGeneADAMTS13
Homology/Alignments : Family Browser (UCSC)ADAMTS13
Phylogenetic Trees/Animal Genes : TreeFamADAMTS13
Chemical/Protein Interactions : CTD11093
Chemical/Pharm GKB GenePA24539
Clinical trialADAMTS13
Cancer Resource (Charite)ENSG00000160323
Other databases
Probes
Litterature
PubMed322 Pubmed reference(s) in Entrez
CoreMineADAMTS13
GoPubMedADAMTS13
iHOPADAMTS13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 18:43:54 CEST 2015

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