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    Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 [ Mus musculus (house mouse) ]

    Gene ID: 330119, updated on 9-Dec-2024

    Summary

    Official Symbol
    Adamts3provided by MGI
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 3provided by MGI
    Primary source
    MGI:MGI:3045353
    See related
    Ensembl:ENSMUSG00000043635 AllianceGenome:MGI:3045353
    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
    Also known as
    1100001H14Rik; 6330442E02Rik
    Summary
    Enables peptidase activity. Acts upstream of or within in utero embryonic development and protein processing. Predicted to be located in extracellular space. Predicted to be active in extracellular matrix. Is expressed in embryo; footplate apical ectodermal ridge; and handplate apical ectodermal ridge. Human ortholog(s) of this gene implicated in Hennekam syndrome. Orthologous to human ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 3.5), CNS E18 (RPKM 3.3) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Adamts3 in Genome Data Viewer
    Location:
    5 E1; 5 44.32 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (89821700..90031521, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (89673841..89883668, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_13586 Neighboring gene neuropeptide FF receptor 2 Neighboring gene predicted gene 7056 Neighboring gene predicted gene, 42162 Neighboring gene STARR-seq mESC enhancer starr_13588 Neighboring gene predicted gene, 25758 Neighboring gene STARR-seq mESC enhancer starr_13590 Neighboring gene eukaryotic translation initiation factor 5A-like 3, pseudogene Neighboring gene predicted gene, 35936

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    Variation

    Alleles

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

    General gene information

    Markers

    Clone Names

    • MGC189989

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in collagen biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular endothelial growth factor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vascular endothelial growth factor production ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 3
    Names
    a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3
    NP_001074870.1
    NP_808540.2
    XP_017176420.1
    XP_036021118.1

    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.

    mRNA and Protein(s)

    1. NM_001081401.2NP_001074870.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001074870.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC102039, AC102056, AC156611
      Consensus CDS
      CCDS39140.1
      UniProtKB/TrEMBL
      B2RY57, G3X9D2
      Related
      ENSMUSP00000058552.6, ENSMUST00000061427.10
      Conserved Domains (6) summary
      smart00209
      Location:554605
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:256457
      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 ...
      pfam01421
      Location:258460
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:66200
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:713827
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10231051
      PLAC; PLAC (protease and lacunin) domain
    2. NM_177872.2NP_808540.2  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC102039, AC102056, AC156611
      Consensus CDS
      CCDS51542.1
      UniProtKB/TrEMBL
      B2RY45, E9Q287
      Related
      ENSMUSP00000132219.2, ENSMUST00000163159.8
      Conserved Domains (6) summary
      smart00209
      Location:554605
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:256457
      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 ...
      pfam01421
      Location:258460
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:66200
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:713828
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10241052
      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_000071.7 Reference GRCm39 C57BL/6J

      Range
      89821700..90031521 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036165225.1XP_036021118.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X1

      Conserved Domains (6) summary
      smart00209
      Location:554605
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:256457
      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:713827
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam01562
      Location:43201
      Pep_M12B_propep; Reprolysin family propeptide
      pfam17771
      Location:472540
      ADAM_CR_2; ADAM cysteine-rich domain
      pfam19030
      Location:849904
      TSP1_ADAMTS; Thrombospondin type 1 domain
    2. XM_017320931.3XP_017176420.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X2

      Conserved Domains (4) summary
      smart00209
      Location:554605
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:256457
      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:43201
      Pep_M12B_propep; Reprolysin family propeptide
      pfam17771
      Location:472540
      ADAM_CR_2; ADAM cysteine-rich domain