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    Adamts17 ADAM metallopeptidase with thrombospondin type 1 motif 17 [ Mus musculus (house mouse) ]

    Gene ID: 233332, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Adamts17provided by MGI
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 17provided by MGI
    Primary source
    MGI:MGI:3588195
    See related
    Ensembl:ENSMUSG00000058145 AllianceGenome:MGI:3588195
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization and proteolysis. Located in collagen-containing extracellular matrix. Is expressed in embryo and eye. Used to study Weill-Marchesani syndrome. Human ortholog(s) of this gene implicated in Weill-Marchesani syndrome. Orthologous to human ADAMTS17 (ADAM metallopeptidase with thrombospondin type 1 motif 17). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 4.9), lung adult (RPKM 1.5) and 17 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Adamts17 in Genome Data Viewer
    Location:
    7 C; 7 36.26 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (66487387..66802373)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (66839699..67153171)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1735 Neighboring gene ankyrin repeat and SOCS box-containing 7 Neighboring gene lines homolog 1 Neighboring gene ceramide synthase 3 Neighboring gene STARR-seq mESC enhancer starr_19091 Neighboring gene predicted gene, 33627 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:74058062-74058215 Neighboring gene predicted gene, 51511 Neighboring gene predicted gene, 53393 Neighboring gene Y box protein 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_19094 Neighboring gene RIKEN cDNA 1700112J16 gene Neighboring gene STARR-positive B cell enhancer ABC_E4933 Neighboring gene LysM, putative peptidoglycan-binding, domain containing 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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

    Bibliography

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    Related articles in PubMed

    1. Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Morales J, et al. Am J Hum Genet, 2009 Nov. PMID 19836009, Free PMC Article
    2. Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. Oichi T, et al. Cell Mol Life Sci, 2019 Dec. PMID 31201465, Free PMC Article
    3. Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics. Dubail J, et al. Matrix Biol, 2015 May-Jul. PMID 25770910
    4. Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development. Mead TJ, et al. Elife, 2022 May 3. PMID 35503090, Free PMC Article
    5. Tracing the origin of hair follicle stem cells. Morita R, et al. Nature, 2021 Jun. PMID 34108685

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 17
    Names
    a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17
    disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17

    NCBI Reference Sequences (RefSeq)

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    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_001033877.4 → NP_001029049.2  A disintegrin and metalloproteinase with thrombospondin motifs 17 precursor

      Status: VALIDATED

      Source sequence(s)
      AC119810, AK053131, BG085304, CF741491, CN530432, CO043544, CX769149
      Consensus CDS
      CCDS21349.2
      UniProtKB/TrEMBL
      D3YX90, E9Q4D1
      Related
      ENSMUSP00000095984.4, ENSMUST00000098382.10
      Conserved Domains (7) summary
      smart00209
      Location:544 → 596
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:230 → 447
      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 ...
      pfam00090
      Location:892 → 946
      TSP_1; Thrombospondin type 1 domain
      pfam01421
      Location:230 → 447
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:75 → 179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:698 → 808
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1080 → 1106
      PLAC; PLAC (protease and lacunin) domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      66487387..66802373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540842.5 → XP_006540905.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X1

      Conserved Domains (5) summary
      smart00209
      Location:544 → 596
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:230 → 447
      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 ...
      pfam01562
      Location:35 → 179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:698 → 808
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam17771
      Location:464 → 531
      ADAM_CR_2; ADAM cysteine-rich domain

    2. XM_006540843.5 → XP_006540906.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X2

      Conserved Domains (5) summary
      smart00209
      Location:544 → 596
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:230 → 447
      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 ...
      pfam01562
      Location:35 → 179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:698 → 808
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam17771
      Location:464 → 531
      ADAM_CR_2; ADAM cysteine-rich domain

    3. XM_006540844.5 → XP_006540907.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X3

      Conserved Domains (5) summary
      smart00209
      Location:544 → 596
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:230 → 447
      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 ...
      pfam01562
      Location:35 → 179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:698 → 808
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam17771
      Location:464 → 531
      ADAM_CR_2; ADAM cysteine-rich domain

    4. XM_006540845.5 → XP_006540908.1  A disintegrin and metalloproteinase with thrombospondin motifs 17 isoform X4

      Conserved Domains (5) summary
      smart00209
      Location:303 → 355
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:1 → 206
      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:457 → 567
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam17771
      Location:223 → 290
      ADAM_CR_2; ADAM cysteine-rich domain
      cl15278
      Location:651 → 705
      TSP_1; Thrombospondin type 1 domain
    Nucleotide Protein Strain
    Heading Accession and Version

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