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ADAMTS13 Gene

protein-coding   GIFtS: 60
GCID: GC09P136279

ADAM Metallopeptidase With Thrombospondin Type 1 Motif,...

(Previous names: a disintegrin-like and metalloprotease (reprolysin type)...)
(Previous symbol: C9orf8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 131 2     VWFCP2 5
C9orf81 2 3     A Disintegrin And Metalloproteinase With Thrombospondin Motifs 132
A Disintegrin-Like And Metalloprotease (Reprolysin Type) With
Thrombospondin Type 1 Motif, 131 2
     EC 3.4.24.873
ADAM-TS132 3     ADAM-TS 133
ADAMTS-132 3     TTP5
vWF-CP2 3     EC 3.4.24.148
Von Willebrand Factor-Cleaving Protease2 3     EC 3.4.24.828
VWF-Cleaving Protease2 3     

External Ids:    HGNC: 13661   Entrez Gene: 110932   Ensembl: ENSG000001603237   OMIM: 6041345   UniProtKB: Q76LX83   

Export aliases for ADAMTS13 gene to outside databases

Previous GC identifers: GC09P127376 GC09P127843 GC09P129634 GC09P131563 GC09P133316 GC09P135276 GC09P105781


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ADAMTS13 Gene:
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)

GeneCards Summary for ADAMTS13 Gene:
ADAMTS13 (ADAM metallopeptidase with thrombospondin type 1 motif, 13) is a protein-coding gene. Diseases associated with ADAMTS13 include thrombotic thrombocytopenic purpura, and evans' syndrome. GO annotations related to this gene include integrin binding and calcium ion binding. An important paralog of this gene is ADAMTSL4.

UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
Function: Cleaves the vWF multimers in plasma into smaller forms

Gene Wiki entry for ADAMTS13 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADAMTS13 gene promoter:
         CREB   NF-1   AP-1   deltaCREB   XBP-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADAMTS13 promoter sequence
   Search Chromatin IP Primers for ADAMTS13

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADAMTS13


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q34

ADAMTS13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADAMTS13 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P136279:  view genomic region     (about GC identifiers)

Start:
136,279,459 bp from pter      End:
136,324,508 bp from pter
Size:
45,050 bases      Orientation:
plus strand

1 alternative location:
Chr9+,NW_003315925 240,433-285,480     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8 (See protein sequence)
Recommended Name: A disintegrin and metalloproteinase with thrombospondin motifs 13 precursor  
Size: 1427 amino acids; 153604 Da
Cofactor: Binds 1 zinc ion per subunit (By similarity)
Cofactor: Binds 4 calcium ions (Potential)
Sequence caution: Sequence=AAQ88485.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAB66743.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
3 PDB 3D structures from and Proteopedia for ADAMTS13:
3GHM (3D)        3GHN (3D)        3VN4 (3D)    
Secondary accessions: Q6UY16 Q710F6 Q711T8 Q96L37 Q9H0G3
Alternative splicing: 3 isoforms:  Q76LX8-1   Q76LX8-2   Q76LX8-3   

Explore the universe of human proteins at neXtProt for ADAMTS13: NX_Q76LX8

Explore proteomics data for ADAMTS13 at MOPED

Post-translational modifications: 

  • Glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence
    C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of
    the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a
    beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of
    ADAMTS13. May also be C-glycosylated on tryptophan residues within the consensus sequence W-X-X-W of the TPRs,
    and also N-glycosylated. These other glycosylations can also facilitate secretion1
  • The precursor is processed by a furin endopeptidase which cleaves off the pro-domain1
  • Glycosylation2 at Asn142, Asn146, Asn552, Asn579, Asn614, Asn667, Ser698, Asn707, Ser757, Asn828,
                                 Ser907, Ser965, Ser1027, Ser1087, Asn1235, Asn1354
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ADAMTS13 (Q76LX8)
     VCGGDNS  CSRSCGGG 


    See ADAMTS13 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_620594.1  NP_620595.1  NP_620596.2  

    ENSEMBL proteins: 
     ENSP00000360997   ENSP00000435274   ENSP00000347927   ENSP00000348997   ENSP00000435305  
     ENSP00000360978   ENSP00000360984   ENSP00000360979   ENSP00000444504  
    Reactome Protein details: Q76LX8

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    Novus Biologicals ADAMTS13 Proteins
    Novus Biologicals ADAMTS13 Lysate
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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ADAMTS: ADAM metallopeptidases with thrombospondin type 1 motif

    IUPHAR Guide to PHARMACOLOGY protein family classification: ADAMTS13
    ADAMTS family

    5 InterPro protein domains:
     IPR000884 Thrombospondin_1_rpt
     IPR024079 MetalloPept_cat_dom
     IPR013273 Peptidase_M12B_ADAM-TS
     IPR000859 CUB_dom
     IPR001590 Peptidase_M12B

    Graphical View of Domain Structure for InterPro Entry Q76LX8

    ProtoNet protein and cluster: Q76LX8

    2 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB001762 Disintegrin


    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
    Domain: The pro-domain is not required for folding or secretion and does not perform the common function of
    maintening enzyme latency
    Domain: The spacer domain is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains may
    modulate this interaction
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 disintegrin domain
    Similarity: Contains 1 peptidase M12B domain
    Similarity: Contains 8 TSP type-1 domains


    ADAMTS13 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATS13_HUMAN, Q76LX8
    Function: Cleaves the vWF multimers in plasma into smaller forms
    Catalytic activity: Cleaves the vWF at the 842-Tyr- -Met-843 in the A2 domain of the vWF subunit
    Catalytic activity: The enzyme cleaves the von Willebrand factor at bond Tyr(842)- -Met(843) within the A2 domain
    Enzyme regulation: Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is
    not required for protease activity. Dependence on calcium for proteolytic activity is mediated by the high
    affinity site

         Enzyme Numbers (IUBMB): EC 3.4.24.142 EC 3.4.24.822 EC 3.4.24.871

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity ----
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005178integrin binding TAS11557746
    GO:0005509calcium ion binding TAS11557746
    GO:0005515protein binding IPI12775718
         
    ADAMTS13 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADAMTS13:
     Decreased viability of wild-ty 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Adamts13):
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  no phenotypic analysis 
     normal 

    ADAMTS13 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ADAMTS13: Adamts13tm1Dgi Adamts13tm1Myta Adamts13tm2.1Dgi

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADAMTS13
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADAMTS13

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADAMTS13
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADAMTS13

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    Inhib. RNA
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    Clone
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATS13_HUMAN, Q76LX8: Secreted. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix TAS11557746
    GO:0005615extracellular space IEA--
    GO:0009986cell surface NAS11557746
    GO:0031012extracellular matrix ----

    ADAMTS13 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Pathways by sourceSee SuperPaths
    Show all pathways


    1 Reactome Pathway for ADAMTS13
        O-glycosylation of TSR domain-containing proteins



    ADAMTS13 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including ADAMTS13: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ADAMTS13

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ADAMTS13 (Q76LX81, 3 ENSP000003609974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VWFP042751, 3, ENSP000002614054EBI-981764,EBI-981819 I2D: score=3 STRING: ENSP00000261405
    F8ENSP000003533934STRING: ENSP00000353393
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IDA11535495
    GO:0007160cell-matrix adhesion NAS11557746
    GO:0007229integrin-mediated signaling pathway NAS11557746
    GO:0009100glycoprotein metabolic process NAS11557746
    GO:0016485protein processing TAS11557746

    ADAMTS13 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ADAMTS13 (ATS13)

    1 HMDB Compound for ADAMTS13    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for ADAMTS13 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ristocetin 68.5 9 16293984 (2), 12590947 (1), 12223999 (1), 15809291 (1) (see all 7)
    rituximab 64.1 15 17562094 (3), 19190804 (2), 15009067 (1), 17233471 (1) (see all 8)
    ticlopidine 56.1 6 16104532 (2), 14687031 (1), 16388413 (1), 17868804 (1)
    vincristine 28.2 3 10348715 (1), 15009067 (1), 9531594 (1)
    cyclosporin a 20.4 6 17910638 (2), 16113782 (1), 17603247 (1), 12438949 (1)
    zinc 17.9 14 16286459 (5), 16201838 (1), 15809291 (1), 14631548 (1) (see all 10)
    desmopressin 17.3 9 12393734 (3), 15735809 (1), 15238142 (1)
    steroid 14.2 1 16787872 (1)
    fibrinogen 7.78 4 17561859 (2), 18988930 (1)
    barium 7.21 4 16286459 (3), 16269936 (1)



    ADAMTS13 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ADAMTS13 gene (4 alternative transcripts): 
    NM_139025.4  NM_139026.4  NM_139027.4  NM_139028.2  

    Unigene Cluster for ADAMTS13:

    ADAM metallopeptidase with thrombospondin type 1 motif, 13
    Hs.131433  [show with all ESTs]
    Unigene Representative Sequence: AB069698
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485925(uc004cdp.4) ENST00000371929(uc004cdq.1 uc004cdt.1 uc004cdu.1 uc004cdv.4 uc004cdw.4 uc004cdx.4 uc004cdz.4)
    ENST00000495234 ENST00000355699 ENST00000356589 ENST00000474918 ENST00000371910(uc004cea.1 uc004ceb.4)
    ENST00000371916(uc004cdr.1 uc004cds.1) ENST00000371911 ENST00000536611(uc004cdy.1)

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    Additional mRNA sequence: 

    AB069698.2 AF414400.1 AF414401.1 AJ305314.1 AJ420810.1 AJ420811.1 AK124983.1 AK292439.1 
    AL136809.1 AY055376.1 AY358118.1 BC034404.1 BC103830.1 NR_024514.1 

    14 DOTS entries:

    DT.75101298  DT.95149106  DT.95149107  DT.101982583  DT.95112538  DT.100747384  DT.121151719  DT.75100402 
    DT.101966600  DT.121151795  DT.97812160  DT.99964038  DT.99993596  DT.40254772 

    Selected AceView cDNA sequences (see all 57):

    AY358118 AL136809 AV647043 AI202898 BQ721578 AF414401 AV647504 AW135955 
    BI043112 NM_139027 NM_139026 AY055376 AF414400 BI043018 AJ305314 AB069698 
    NM_139025 AJ420810 AJ420811 T12572 CD636625 NM_139028 AI474749 AW294887 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS13 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
    SP1:                                                  -                 -                                         -                                             
    SP2:                                                  -                 -                                         -                                             
    SP3:                                                  -     -           -                                         -                                             
    SP4:                                            -     -     -     -     -                 -                       -                       -     -     -         
    SP5:                                            -     -     -     -     -           -     -     -     -     -     -                                             

    ExUns: 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b
    SP1:                                                              -                 -                     
    SP2:                                                        -     -                 -                     
    SP3:                                                        -     -                 -                     
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for ADAMTS13

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ADAMTS13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGGCTGAAA
    ADAMTS13 Expression
    About this image


    ADAMTS13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Colon (Gastrointestinal Tract)
    ADAMTS13 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADAMTS13 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.131433

    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
    Tissue specificity: Plasma. Expressed primarily in liver

        Pathway & Disease-focused RT2 Profiler PCR Array including ADAMTS13: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ADAMTS13 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adamts131 , 5 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 less1, 5 76.64(n)1
    71.65(a)1
      2 (19.14 cM)5
    2790281  NM_001001322.21  NP_001001322.11 
     269734165 
    chicken
    (Gallus gallus)
    Aves ADAMTS131 ADAM metallopeptidase with thrombospondin type 1 motif, 13 less 61.96(n)
    57.53(a)
      417152  XM_415435.4  XP_415435.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    20(a)
    many ↔ many
    4(70717077-70764592)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adamts131 ADAM metallopeptidase with thrombospondin type 1 motif, 13 less 54.12(n)
    48.3(a)
      100485801  XM_002942916.2  XP_002942962.2 
    zebrafish
    (Danio rerio)
    Actinopterygii adamts131 ADAM metallopeptidase with thrombospondin type 1 motif, 13 less 50.35(n)
    43.27(a)
      100320289  XM_002663221.3  XP_002663267.3 


    ENSEMBL Gene Tree for ADAMTS13 (if available)
    TreeFam Gene Tree for ADAMTS13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADAMTS13 gene
    ADAMTSL42  ADAMTS72  ADAMTS122  THSD42  ADAMTSL22  PAPLN2  ADAMTSL52  ADAMTSL12  
    ENSG000002156162  ADAMTSL32  
    11 SIMAP similar genes for ADAMTS13 using alignment to 8 protein entries:     ATS13_HUMAN (see all proteins):
    C9orf8    ADAMTS12    ADAMTS17    ADAMTS1    ADAMTS20    DKFZp686E01144
    ADAMTS8    PAPLN    ADAMTS9    ADAMTS19    ADAMTS2

    ADAMTS13 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ADAMTS13
    PGOHUM00000236785


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ATS13_HUMAN, Q76LX8: Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent
    on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene
    expression, thereby altering the phenotype of ADAMTS13 deficiency


    Selected SNPs for ADAMTS13 (see all 1182)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1425722181,2,,4
    C,FThrombotic thrombocytopenic purpura congenital (TTP)4 untested1106086670(+) TGGTGC/TGGCCC 7 R W mis12Minor allele frequency- T:0.00NA EU 5673
    rs1219084721,2,,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106086778(+) GCCCAT/GGTTCG 7 /G /C mis11Minor allele frequency- G:0.00NA 4548
    rs2818753011,2,,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 untested1106095409(+) CTCCTA/C/GCGGGC 11 Y S C mis10--------
    rs1219084751,2,,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106098716(+) CTGTGC/TGTGGG 7 R C mis1 int11Minor allele frequency- T:0.00EU 1101
    rs2818752901,2,,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 untested1106100846(+) TCGTGC/GCTGGG 7 P A mis10--------
    rs1219084711,2,,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106107743(+) CTCCCA/GCTCCT 7 H R mis1 int10--------
    rs1219084701,2,,4
    CThrombotic thrombocytopenic purpura congenital (TTP)4 pathogenic1106114828(+) CGTCAC/TCCAGC 7 T I mis10--------
    rs115759331,2,,4
    C,Fpathogenic1106104278(+) CTGTAC/TCACAC 7 P S mis1 int13Minor allele frequency- T:0.00NA 2938
    rs1219084761,2
    Cpathogenic1106104356(+) CGCAAC/TAGTGC 7 Q * stg1 int10--------
    rs23016121,2,,4
    C,F,A,Hpathogenic1106104359(+) TGTCGC/GAACAG 7 Q E mis1 int122Minor allele frequency- G:0.24NS EA NA EU 5661

    HapMap Linkage Disequilibrium report for ADAMTS13 (136279459 - 136324508 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ADAMTS13 (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739138CNV Deletion23290073
    nsv894096CNV Loss21882294
    nsv894081CNV Loss21882294
    esv26825CNV Loss19812545
    nsv894091CNV Loss21882294
    nsv894090CNV Loss21882294
    dgv8329n71CNV Loss21882294
    dgv8328n71CNV Loss21882294
    dgv8325n71CNV Loss21882294
    nsv894095CNV Loss21882294

    Human Gene Mutation Database (HGMD): ADAMTS13
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADAMTS13
    DNA2.0 Custom Variant and Variant Library Synthesis for ADAMTS13

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604134   
    OMIM disorders: 274150  
    UniProtKB/Swiss-Prot: ATS13_HUMAN, Q76LX8
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for ADAMTS13 (see all 61):    
    About MalaCards
    thrombotic thrombocytopenic purpura    evans' syndrome    familial thrombotic thrombocytopenia purpura    purpura
    thrombotic thrombocytopenic purpura, congenital    type 1 von willebrand disease    malignant hypertension    type 2b von willebrand disease
    catastrophic antiphospholipid syndrome    von willebrand's disease    hellp syndrome    antiphospholipid syndrome
    alcoholic hepatitis    autoimmune thrombocytopenic purpura    disseminated intravascular coagulation    hemolytic-uremic syndrome
    connective tissue disease    nephrosclerosis    atypical hemolytic-uremic syndrome    mixed connective tissue disease

    5 diseases from the University of Copenhagen DISEASES database for ADAMTS13:
    Thrombotic thrombocytopenic purpura     Thrombocytopenia     Anemia     Von Willebrand's disease
    Kidney failure

    ADAMTS13 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ADAMTS13 gene (see all 53)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    purpura thrombotic thrombocytopenic 97.9 294 18332284 (6), 10961577 (4), 18223285 (3), 15561695 (3) (see all 99)
    idiopathic thrombotic thrombocytopenic purpura 94.5 14 17898570 (2), 20121555 (2), 17910638 (1), 15232311 (1) (see all 10)
    anemia hemolytic microangiopathic 89.1 3 19847791 (1), 11992240 (1), 14727262 (1)
    uremic syndrome 85 9 17058049 (1), 18561752 (1), 16167049 (1), 15298154 (1) (see all 9)
    thrombocytopenia 82.7 36 16528712 (2), 19260037 (2), 18988930 (2), 12434890 (1) (see all 26)
    anemia hemolytic 76.5 2 12923683 (1), 15524133 (1)
    von willebrand disease 71.3 12 15166929 (1), 15755288 (1), 14631548 (1), 14525793 (1) (see all 10)
    hemolytic-uremic syndrome 69.6 4 16411392 (1), 14631548 (1), 11992240 (1), 17627784 (1)
    hemolysis 64.1 18 19253359 (2), 12714826 (1), 17124092 (1), 12605663 (1) (see all 13)
    thrombosis 62.4 38 16201838 (2), 14631548 (2), 19180123 (2), 20058209 (2) (see all 22)

    Genetic Association Database (GAD): ADAMTS13
    Human Genome Epidemiology (HuGE) Navigator: ADAMTS13 (13 documents)

    Export disorders for ADAMTS13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ADAMTS13 gene, integrated from 10 sources (see all 503):
    (articles sorted by number of sources associating them with ADAMTS13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. (PubMed id 14512317)1, 2, 4, 9 Pimanda J.E....Hogg P.J. (Blood 2004)
    2. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. (PubMed id 11557746)1, 2, 3, 9 Zheng X....Fujikawa K. (J. Biol. Chem. 2001)
    3. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. (PubMed id 11535495)1, 2, 3 Fujikawa K.... Chung D. (Blood 2001)
    4. Zinc and calcium ions cooperatively modulate ADAMTS13 activity. (PubMed id 16286459)1, 2, 9 Anderson P.J.... Sadler J.E. (J. Biol. Chem. 2006)
    5. Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura. (PubMed id 18031293)1, 4, 9 Camilleri R.S....Machin S.J. (J. Thromb. Haemost. 2008)
    6. O-fucosylation is required for ADAMTS13 secretion. (PubMed id 17395589)1, 2, 9 Ricketts L.M....Majerus E.M. (J. Biol. Chem. 2007)
    7. Lower levels of ADAMTS13 are associated with cardiovascular disease in young patients. (PubMed id 19439298)1, 4, 9 Bongers T.N....Leebeek F.W. (Atherosclerosis 2009)
    8. Frequency of Pro475Ser polymorphism of ADAMTS13 gene and its association with ADAMTS-13 activity in the Korean population. (PubMed id 18581589)1, 4, 9 Jang M.J....Oh D. (Yonsei Med. J. 2008)
    9. Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity. (PubMed id 12181489)1, 2, 9 Kokame K.... Fujimura Y. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). (PubMed id 15009458)1, 2, 9 Veyradier A.... Girma J.P. (J. Thromb. Haemost. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 11093 HGNC: 1366 AceView: ADAMTS13 Ensembl:ENSG00000160323 euGenes: HUgn11093
    ECgene: ADAMTS13 H-InvDB: ADAMTS13

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ADAMTS13 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/ADAMTS13
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ADAMTS13[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/adamts13/

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADAMTS13 gene:
    Search GeneIP for patents involving ADAMTS13

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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