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    ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 [ Homo sapiens (human) ]

    Gene ID: 11093, updated on 31-Mar-2013
    Official Symbol
    ADAMTS13provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif, 13provided by HGNC
    Primary source
    HGNC:1366
    Locus tag
    UNQ6102/PRO20085
    See related
    Ensembl:ENSG00000160323; HPRD:04994; MIM:604134; Vega:OTTHUMG00000020876
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    13; TTP; VWFCP; C9orf8; vWF-CP; ADAM-TS; ADAM-TS13; ADAMTS-13
    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]
    Location :
    9q34
    Sequence :
    Chromosome: 9; NC_000009.11 (136279459..136324508)
    See ADAMTS13 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene surfeit 4 Neighboring gene chromosome 9 open reading frame 96 Neighboring gene REX4, RNA exonuclease 4 homolog (S. cerevisiae) Neighboring gene calcium channel flower domain containing 1 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 6

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Role of reduced ADAMTS13 in arterial ischemic stroke: a pediatric cohort study. Lambers M, et al. Ann Neurol, 2013 Jan. PMID 23225307.
    2. Cyclosporin A impairs the secretion and activity of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeat). Hershko K, et al. J Biol Chem, 2012 Dec 28. PMID 23144461.
    3. Simultaneous exposure of sites in von Willebrand factor for glycoprotein Ib binding and ADAMTS13 cleavage: studies with ristocetin. Chen J, et al. Arterioscler Thromb Vasc Biol, 2012 Nov. PMID 22922961.
    4. Protective anti-inflammatory effect of ADAMTS13 on myocardial ischemia/reperfusion injury in mice. De Meyer SF, et al. Blood, 2012 Dec 20. PMID 22915644.
    5. Light chain of factor VIII is sufficient for accelerating cleavage of von Willebrand factor by ADAMTS13 metalloprotease. Cao W, et al. J Biol Chem, 2012 Sep 21. PMID 22854959.

    See all (263) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Reduced ADAMTS13 activity is a risk factor for pediatric arterial ischemic stroke.
      Title: Role of reduced ADAMTS13 in arterial ischemic stroke: a pediatric cohort study.
    2. Cyclophilin B activity regulated secretion and activity of ADAMTS13.
      Title: Cyclosporin A impairs the secretion and activity of ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 repeat).
    3. ADAMTS13 reduces myocardial ischemia/reperfusion injury in mice and rhADAMTS13 could be of therapeutic value to limit myocardial ischemia/reperfusion injury.
      Title: Protective anti-inflammatory effect of ADAMTS13 on myocardial ischemia/reperfusion injury in mice.
    4. study confirms the heterogeneity of ADAMTS13 defects and an association between ADAMTS13 genotypes and thrombotic thrombocytopenic purpura phenotype
      Title: A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.
    5. ADAMTS-13 activity and autoantibodies classes and subclasses are of predictive value for acute episode severity in patients with acquired thrombotic thrombocytopenic purpura.
      Title: ADAMTS-13 activity and autoantibodies classes and subclasses as prognostic predictors in acquired thrombotic thrombocytopenic purpura.
    6. Data indicate that exposure of von Willebrand factor sites for glycoprotein Ibalpha binding and ADAMTS13 cleavage are coupled.
      Title: Simultaneous exposure of sites in von Willebrand factor for glycoprotein Ib binding and ADAMTS13 cleavage: studies with ristocetin.
    7. A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy [case report]
      Title: A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy.
    8. The effects of six synonymous and six non-synonymous variations, previously found in the gene of ADAMTS13, the von Willebrand Factor (VWF) cleaving hemostatic protease, have been investigated.
      Title: Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches.
    9. Light chain of factor VIII is sufficient for accelerating cleavage of von Willebrand factor by ADAMTS13 metalloprotease.
      Title: Light chain of factor VIII is sufficient for accelerating cleavage of von Willebrand factor by ADAMTS13 metalloprotease.
    10. chimeric proteases and substrates to examine the role of C-terminal domains of ADAMTS13 and ADAMTS5 in the recognition of their physiological cleavage sites in von Willebrand factor (VWF) and aggrecan, respectively
      Title: Rearranging exosites in noncatalytic domains can redirect the substrate specificity of ADAMTS proteases.
    Submit: New GeneRIF Correction See all (240)

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Q76LX8 P04275 VWF    HPRD  PubMed  

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ42993, MGC118899, MGC118900, DKFZp434C2322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    integrin binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metallopeptidase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    zinc ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cell-matrix adhesion NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    glycoprotein metabolic process NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    peptide catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    platelet activation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    protein processing TAS
    Traceable Author Statement
    more info
    		 PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cell surface NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    proteinaceous extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    Names
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    ADAM-TS 13
    vWF-cleaving protease
    von Willebrand factor-cleaving protease
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
    NP_620594.1
    NP_620595.1
    NP_620596.2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011934.1 RefSeqGene

      Range
      5001..42389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139025.3 → NP_620594.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB069698, AW197188, AY055376, AY358118
      Consensus CDS
      CCDS6970.1
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000360997, OTTHUMP00000022496, ENST00000371929, OTTHUMT00000054920
      Conserved Domains (2) summary
      cd04273
      Location:80 – 283
      Blast Score: 653
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      smart00209
      Location:387 – 439
      Blast Score: 165
      TSP1; Thrombospondin type 1 repeats

    2. NM_139026.3 → NP_620595.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region, compared to variant 1. It encodes isoform 3 which lacks two internal segments, compared to isoform 1.
      Source sequence(s)
      AB069698, AJ305314, AK124983, AY358118
      Consensus CDS
      CCDS6971.1
      UniProtKB/TrEMBL
      B3KWF7
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000348997, OTTHUMP00000022498, ENST00000356589, OTTHUMT00000054922
      Conserved Domains (2) summary
      cd04273
      Location:80 – 277
      Blast Score: 628
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      smart00209
      Location:356 – 408
      Blast Score: 165
      TSP1; Thrombospondin type 1 repeats

    3. NM_139027.3 → NP_620596.2  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a fragment in the 3' coding region, as compared to variant 1. It encodes isoform 2 which lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      AB069698, AJ420810, AK124983, AY358118
      Consensus CDS
      CCDS6972.1
      UniProtKB/TrEMBL
      B3KWF7
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000347927, OTTHUMP00000022497, ENST00000355699, OTTHUMT00000054921
      Conserved Domains (2) summary
      cd04273
      Location:80 – 283
      Blast Score: 652
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      smart00209
      Location:387 – 439
      Blast Score: 165
      TSP1; Thrombospondin type 1 repeats

    RNA

    1. NR_024514.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon and has multiple coding region differences compared to variant 1. The predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AL158826, AY358118, BC034404, DB069518

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 PATCHES

    Genomic

    1. NW_003315925.1 Reference GRCh37.p10 PATCHES

      Range
      240433..285480
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p10 Primary Assembly

      Range
      136279459..136324508
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      105781289..105826202
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018920.1 Alternate CHM1_1.0

      Range
      136296479..136341526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139028.2: Suppressed sequence

      Description
      NM_139028.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01032457.1 (31451..58804) None
    genomic ABBA01032458.1 None
    genomic AL158826.23 CAI12850.1
      CAI12851.1
      CAI12852.1
    genomic AL593848.15 (65854..110901) None
    genomic AMYH01021802.1 (20952..35179) None
    genomic AMYH01021803.1 None
    genomic AMYH01021804.1 None
    genomic AY532929.1 AAS54901.1
    genomic AY532930.1 AAS54902.1
    genomic AY532931.1 AAS54903.1
    genomic AY532932.1 AAS54904.1
    genomic CH471090.1 EAW88083.1
      EAW88084.1
      EAW88085.1
      EAW88086.1
      EAW88087.1
      EAW88088.1
    genomic DQ422807.1 ABD72606.1
    mRNA AB069698.2 BAB69487.2
    mRNA AF414401.1 AAL11095.1
    mRNA AJ011374.1 CAB66157.1
    mRNA AJ305314.1 CAC83682.1
    mRNA AJ420810.1 CAD12729.1
    mRNA AJ420811.1 CAD12730.1
    mRNA AK124983.1 BAG54119.1
    mRNA AK292439.1 BAF85128.1
    mRNA AL136809.1 CAB66743.1
    mRNA AW197188.1 None
    mRNA AY055376.1 AAL17652.1
    mRNA AY358118.1 AAQ88485.1
    mRNA BC034404.1 None
    mRNA BC039251.1 None
    mRNA BC103828.1 None
    mRNA BC103829.1 None
    mRNA BC103830.1 None
    mRNA DB069518.1 None
    other-genetic BC172369.1 AAI72369.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q76LX8.1 GenPept UniProtKB/Swiss-Prot:Q76LX8

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
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        Citations in PubMed identified from shared sequence and PMC links.
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