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    Adamts13 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13 [ Mus musculus (house mouse) ]

    Gene ID: 279028, updated on 13-Mar-2018
    Official Symbol
    Adamts13provided by MGI
    Official Full Name
    a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13provided by MGI
    Primary source
    MGI:MGI:2685556
    See related
    Ensembl:ENSMUSG00000014852 Vega:OTTMUSG00000011842
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm710; vWF-CP; ADAM-TS13; ADAMTS-13
    Summary
    This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in liver adult (RPKM 2.2), liver E18 (RPKM 1.0) and 14 other tissues See more
    Orthologs
    Location:
    2; 2 A3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 2 NC_000068.7 (26973416..27009628)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (26828936..26865145)

    Chromosome 2 - NC_000068.7Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase-like domain containing 1 Neighboring gene predicted gene, 39775 Neighboring gene REX4, 3'-5' exonuclease Neighboring gene predicted gene, 36649 Neighboring gene calcium channel flower domain containing 1 Neighboring gene solute carrier family 2 (facilitated glucose transporter), member 6

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metallopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    hemostasis IEA
    Inferred from Electronic Annotation
    more info
     
    peptide catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    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-CP mRNA for von Willebrand factor-cleaving
    vWF-cleaving protease
    von Willebrand factor-cleaving protease
    NP_001001322.1
    NP_001277392.1
    NP_001277393.1
    NP_001277394.1
    XP_006498161.1
    XP_006498163.1
    XP_006498166.1
    XP_006498167.1

    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.

    mRNA and Protein(s)

    1. NM_001001322.2NP_001001322.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001001322.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB095445, AB112362
      Consensus CDS
      CCDS15820.1
      UniProtKB/Swiss-Prot
      Q769J6
      Related
      ENSMUSP00000099955.3, OTTMUSP00000012637, ENSMUST00000102891.3, OTTMUST00000027822
      Conserved Domains (3) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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:565683
      ADAM_spacer1; ADAM-TS Spacer 1
    2. NM_001290463.1NP_001277392.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AB095445, AB112362
      UniProtKB/Swiss-Prot
      Q769J6
      Conserved Domains (3) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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:565683
      ADAM_spacer1; ADAM-TS Spacer 1
    3. NM_001290464.1NP_001277393.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform IAP-a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IAP-a) lacks seven 3' exons but instead contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (IAP-a) has a distinct C-terminus and is shorter than isoform 1. This isoform (IAP-a) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AL773563, AL845266
      Consensus CDS
      CCDS71010.1
      UniProtKB/TrEMBL
      A2ALB3
      Related
      ENSMUSP00000014996.7, OTTMUSP00000012638, ENSMUST00000014996.13, OTTMUST00000027823
      Conserved Domains (3) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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:565683
      ADAM_spacer1; ADAM-TS Spacer 1
    4. NM_001290465.1NP_001277394.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform IAP-b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (IAP-b) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, and it also lacks seven 3' exons but instead contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (IAP-b) has a distinct C-terminus and is shorter than isoform 1. This isoform (IAP-b) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AL773563, AL845266, EU034706
      UniProtKB/TrEMBL
      A7LM19
      Conserved Domains (2) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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 ...

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000068.7 Reference GRCm38.p4 C57BL/6J

      Range
      26973416..27009628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006498098.2XP_006498161.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

      Conserved Domains (2) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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 ...
    2. XM_006498100.3XP_006498163.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

      Conserved Domains (3) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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:565683
      ADAM_spacer1; ADAM-TS Spacer 1
    3. XM_006498104.3XP_006498167.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

      Conserved Domains (3) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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:565683
      ADAM_spacer1; ADAM-TS Spacer 1
    4. XM_006498103.3XP_006498166.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

      Conserved Domains (3) summary
      smart00209
      Location:392444
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:82286
      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:565683
      ADAM_spacer1; ADAM-TS Spacer 1

    RNA

    1. XR_374099.2 RNA Sequence

    2. XR_001782991.1 RNA Sequence

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