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

    Gene ID: 11093, updated on 2-Aug-2021

    Summary

    Official Symbol
    ADAMTS13provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 13provided by HGNC
    Primary source
    HGNC:HGNC:1366
    See related
    Ensembl:ENSG00000160323 MIM:604134
    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
    VWFCP; C9orf8; vWF-CP; ADAM-TS13; ADAMTS-13
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 4.0), testis (RPKM 2.7) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See ADAMTS13 in Genome Data Viewer
    Location:
    9q34.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (133414337..133459403)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136279457..136324508)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene surfeit 2 Neighboring gene surfeit 4 Neighboring gene serine/threonine kinase like domain containing 1 Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene Sharpr-MPRA regulatory region 9315 Neighboring gene calcium channel flower domain containing 1 Neighboring gene solute carrier family 2 member 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    GeneReviews: Not available
    Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
    GeneReviews: Not available
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    GeneReviews: Not available
    Upshaw-Schulman syndrome
    MedGen: C1268935 OMIM: 274150 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ42993, MGC118899, MGC118900, DKFZp434C2322

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables integrin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables metallopeptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-matrix adhesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to interferon-gamma IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to interleukin-4 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glycoprotein metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in integrin-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in peptide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein processing TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to amine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to potassium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
    vWF-cleaving protease
    von Willebrand factor-cleaving protease
    NP_620594.1
    NP_620595.1
    NP_620596.2
    XP_011516478.1
    XP_011516480.1
    XP_011516481.1
    XP_016869721.1
    XP_016869722.1
    XP_016869723.1
    XP_016869724.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011934.2 RefSeqGene

      Range
      12662..50065
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_544

    mRNA and Protein(s)

    1. NM_139025.5NP_620594.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_620594.1

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Consensus CDS
      CCDS6970.1
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000360997.3, ENST00000371929.7
      Conserved Domains (3) summary
      smart00209
      Location:387439
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:80283
      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 ...
      pfam05986
      Location:559680
      ADAM_spacer1; ADAM-TS Spacer 1
    2. NM_139026.6NP_620595.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_620595.1

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Consensus CDS
      CCDS6971.1
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000348997.2, ENST00000356589.6
      Conserved Domains (3) summary
      smart00209
      Location:356408
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:80277
      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 ...
      pfam05986
      Location:528649
      ADAM_spacer1; ADAM-TS Spacer 1
    3. NM_139027.6NP_620596.2  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_620596.2

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Consensus CDS
      CCDS6972.1
      UniProtKB/Swiss-Prot
      Q76LX8
      Related
      ENSP00000347927.2, ENST00000355699.7
      Conserved Domains (3) summary
      smart00209
      Location:387439
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:80283
      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 ...
      pfam05986
      Location:559680
      ADAM_spacer1; ADAM-TS Spacer 1

    RNA

    1. NR_024514.3 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL593848
      Related
      ENST00000485925.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

      Range
      133414337..133459403
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014233.1XP_016869722.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

      Conserved Domains (3) summary
      smart00209
      Location:257309
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:429550
      ADAM_spacer1; ADAM-TS Spacer 1
      cl00064
      Location:1153
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
    2. XM_017014232.1XP_016869721.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

    3. XM_017014235.1XP_016869724.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

    4. XM_017014234.2XP_016869723.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

      Conserved Domains (2) summary
      smart00209
      Location:57109
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:229350
      ADAM_spacer1; ADAM-TS Spacer 1
    5. XM_011518176.3XP_011516478.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

      See identical proteins and their annotated locations for XP_011516478.1

      Conserved Domains (2) summary
      smart00209
      Location:59111
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:231352
      ADAM_spacer1; ADAM-TS Spacer 1
    6. XM_011518179.1XP_011516481.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

      See identical proteins and their annotated locations for XP_011516481.1

      Conserved Domains (1) summary
      smart00209
      Location:301360
      TSP1; Thrombospondin type 1 repeats
    7. XM_011518178.2XP_011516480.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

      See identical proteins and their annotated locations for XP_011516480.1

      Conserved Domains (1) summary
      pfam05986
      Location:114235
      ADAM_spacer1; ADAM-TS Spacer 1

    RNA

    1. XR_001746171.1 RNA Sequence

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_009646201.1 Reference GRCh38.p13 PATCHES

      Range
      240431..285480
      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.
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