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    ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 [ Homo sapiens (human) ]

    Gene ID: 80070, updated on 3-Dec-2024

    Summary

    Official Symbol
    ADAMTS20provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 20provided by HGNC
    Primary source
    HGNC:HGNC:17178
    See related
    Ensembl:ENSG00000173157 MIM:611681; AllianceGenome:HGNC:17178
    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
    GON-1; ADAM-TS20; ADAMTS-20
    Summary
    The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADAMTS20 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (43352763..43552203, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (43312136..43512777, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (43747669..43946006, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak1696 silencer Neighboring gene mitochondrial ribosomal protein S36 pseudogene 5 Neighboring gene MPRA-validated peak1697 silencer Neighboring gene long intergenic non-protein coding RNA 2461 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:43666029-43666616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:43864991-43865531 Neighboring gene ribosomal protein L21 pseudogene 101 Neighboring gene THAP domain containing 12 pseudogene

    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

    EBI GWAS Catalog

    Description
    Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of signal transduction 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
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 20
    Names
    a disintegrin-like and metalloprotease (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.

    Genomic

    1. NG_028228.1 RefSeqGene

      Range
      4719..203056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025003.5NP_079279.3  A disintegrin and metalloproteinase with thrombospondin motifs 20 preproprotein

      See identical proteins and their annotated locations for NP_079279.3

      Status: REVIEWED

      Source sequence(s)
      AC090525, AC120104, AF488804, AJ515153, CN292892
      Consensus CDS
      CCDS31778.2
      UniProtKB/Swiss-Prot
      A6NNC9, J3QT00, P59510
      Related
      ENSP00000374071.3, ENST00000389420.8
      Conserved Domains (7) summary
      smart00209
      Location:559611
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:259464
      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:259467
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:64185
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:721840
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17141909
      GON; GON domain
      cl15278
      Location:14821525
      TSP_1; Thrombospondin type 1 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      43352763..43552203 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011538754.3XP_011537056.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1

      UniProtKB/Swiss-Prot
      A6NNC9, J3QT00, P59510
      Conserved Domains (7) summary
      smart00209
      Location:560612
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:259464
      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:259467
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:64185
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:722841
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17151910
      GON; GON domain
      cl15278
      Location:14831526
      TSP_1; Thrombospondin type 1 domain
    2. XM_017019979.2XP_016875468.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

      Conserved Domains (3) summary
      smart00209
      Location:155207
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:317436
      ADAM_spacer1; ADAM-TS Spacer 1
      cl00064
      Location:459
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      43312136..43512777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373256.1XP_054229231.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1

      UniProtKB/Swiss-Prot
      A6NNC9, J3QT00, P59510
    2. XM_054373257.1XP_054229232.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175851.1: Suppressed sequence

      Description
      NM_175851.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.