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    Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif 20 [ Mus musculus (house mouse) ]

    Gene ID: 223838, updated on 9-Dec-2024

    Summary

    Official Symbol
    Adamts20provided by MGI
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 20provided by MGI
    Primary source
    MGI:MGI:2660628
    See related
    Ensembl:ENSMUSG00000022449 AllianceGenome:MGI:2660628
    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
    bt; Adamst20
    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. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in CNS E11.5 (RPKM 1.8), CNS E18 (RPKM 1.4) and 10 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See Adamts20 in Genome Data Viewer
    Location:
    15 E3; 15 48.2 cM
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (94166177..94329966, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (94268314..94432074, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41388 Neighboring gene STARR-seq mESC enhancer starr_39543 Neighboring gene STARR-seq mESC enhancer starr_39544 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:94018122-94018312 Neighboring gene RIKEN cDNA D630010B17 gene Neighboring gene STARR-seq mESC enhancer starr_39547 Neighboring gene STARR-positive B cell enhancer mm9_chr15:94351032-94351333 Neighboring gene STARR-positive B cell enhancer ABC_E3153 Neighboring gene STARR-seq mESC enhancer starr_39549 Neighboring gene pseudouridylate synthase 7-like Neighboring gene interleukin-1 receptor-associated kinase 4

    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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (12) 
    • Endonuclease-mediated (1) 
    • Spontaneous (13)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within extracellular matrix organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of melanocyte differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of melanocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of melanocyte differentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of melanocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of developmental pigmentation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within regulation of developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 20
    Names
    a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20

    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_001164785.2NP_001158257.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC084382, AC084384
      Consensus CDS
      CCDS49711.1
      UniProtKB/TrEMBL
      Q3UQW9
      Related
      ENSMUSP00000121696.2, ENSMUST00000155907.2
      Conserved Domains (5) summary
      smart00209
      Location:556608
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:255461
      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:255464
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:64185
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:718836
      ADAM_spacer1; ADAM-TS Spacer 1
    2. NM_001164786.2NP_001158258.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1. This isoform (3) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC084382, AC084384
      UniProtKB/TrEMBL
      Q3ULV2
      Related
      ENSMUST00000129195.8
      Conserved Domains (1) summary
      cd04273
      Location:255461
      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 ...
    3. NM_177431.6NP_803180.3  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_803180.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC084382, AC084384
      Consensus CDS
      CCDS27770.1
      UniProtKB/Swiss-Prot
      E9QLA1, P59511
      UniProtKB/TrEMBL
      Q0V926
      Related
      ENSMUSP00000036330.5, ENSMUST00000035342.11
      Conserved Domains (6) summary
      smart00209
      Location:556608
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:255461
      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:255464
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:64185
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:718836
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17101905
      GON; GON 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_000081.7 Reference GRCm39 C57BL/6J

      Range
      94166177..94329966 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006520863.4XP_006520926.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1

      UniProtKB/TrEMBL
      Q0V926
      Conserved Domains (6) summary
      smart00209
      Location:565617
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:264470
      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:50195
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:727845
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17191914
      GON; GON domain
      pfam17771
      Location:485552
      ADAM_CR_2; ADAM cysteine-rich domain
    2. XM_011245594.4XP_011243896.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

      UniProtKB/TrEMBL
      Q0V926
      Conserved Domains (6) summary
      smart00209
      Location:556608
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:255461
      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:41186
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:718836
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17101824
      GON; GON domain
      pfam17771
      Location:476543
      ADAM_CR_2; ADAM cysteine-rich domain
    3. XM_017316581.3XP_017172070.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X3

      Conserved Domains (3) summary
      smart00209
      Location:626682
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:140258
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:11321246
      GON; GON domain

    RNA

    1. XR_001781518.2 RNA Sequence