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    ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif 10 [ Homo sapiens (human) ]

    Gene ID: 81794, updated on 17-Jun-2024

    Summary

    Official Symbol
    ADAMTS10provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 10provided by HGNC
    Primary source
    HGNC:HGNC:13201
    See related
    Ensembl:ENSG00000142303 MIM:608990; AllianceGenome:HGNC:13201
    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
    WMS; WMS1; ADAM-TS10; ADAMTS-10
    Summary
    This gene belongs to the ADAMTS (a disintegrin and metalloproteinase domain with thrombospondin type-1 motifs) family of zinc-dependent proteases. ADAMTS proteases are complex secreted enzymes containing a prometalloprotease domain of the reprolysin type attached to an ancillary domain with a highly conserved structure that includes at least one thrombospondin type 1 repeat. They have been demonstrated to have important roles in connective tissue organization, coagulation, inflammation, arthritis, angiogenesis and cell migration. The product of this gene plays a major role in growth and in skin, lens, and heart development. It is also a candidate gene for autosomal recessive Weill-Marchesani syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in endometrium (RPKM 4.7), fat (RPKM 3.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADAMTS10 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8580240..8610715, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8567599..8598065, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8645124..8675600, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8576283-8577173 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8587561-8588060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10031 Neighboring gene zinc finger protein 414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8590637-8591612 Neighboring gene uncharacterized LOC124904633 Neighboring gene myosin IF Neighboring gene MPRA-validated peak3335 silencer Neighboring gene MPRA-validated peak3337 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13920 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13923 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10033 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8643658-8643852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8649461-8650040 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:8651198-8651775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8656685-8657283 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8674492-8674914 Neighboring gene Sharpr-MPRA regulatory region 9055 Neighboring gene NFIL3 like basic leucine zipper Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13924 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:8794921-8795103 Neighboring gene actin like 9

    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

    Associated conditions

    Description Tests
    Weill-Marchesani syndrome 1
    MedGen: C4552002 OMIM: 277600 GeneReviews: Weill-Marchesani Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    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 IDA
    Inferred from Direct Assay
    more info
    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
     
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 10
    Names
    ADAM-TS 10
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10
    zinc metalloendopeptidase

    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_011840.2 RefSeqGene

      Range
      4988..35463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001282352.2NP_001269281.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons, uses an alternate 5'-terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC130469, AF163762, AK131414, BC029308, BF510205
      Consensus CDS
      CCDS62529.1
      UniProtKB/TrEMBL
      Q6ZN14
      Related
      ENSP00000470501.1, ENST00000595838.5
      Conserved Domains (3) summary
      smart00209
      Location:497541
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:193305
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:556587
      PLAC; PLAC (protease and lacunin) domain
    2. NM_030957.4NP_112219.3  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB209515, AC130469, AF163762, AK131414, BC029308, BF510205, CN431169
      Consensus CDS
      CCDS12206.1
      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
      UniProtKB/TrEMBL
      A0A0A0MQW6
      Related
      ENSP00000471851.1, ENST00000597188.6
      Conserved Domains (6) summary
      smart00209
      Location:550602
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:239454
      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:239457
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:73179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:706818
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10691100
      PLAC; PLAC (protease and lacunin) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      8580240..8610715 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027338.3XP_016882827.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2

      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
      UniProtKB/TrEMBL
      A0A0A0MQW6
      Conserved Domains (6) summary
      smart00209
      Location:550602
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:239454
      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:239457
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:73179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:706818
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10691100
      PLAC; PLAC (protease and lacunin) domain
    2. XM_047439480.1XP_047295436.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
    3. XM_047439481.1XP_047295437.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
    4. XM_047439483.1XP_047295439.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4

    5. XM_047439482.1XP_047295438.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X3

    6. XM_047439484.1XP_047295440.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X5

    RNA

    1. XR_001753770.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8567599..8598065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322261.1XP_054178236.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2

      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
    2. XM_054322259.1XP_054178234.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
    3. XM_054322260.1XP_054178235.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

      UniProtKB/Swiss-Prot
      M0QZE4, Q9H324
    4. XM_054322263.1XP_054178238.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4

    5. XM_054322262.1XP_054178237.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X3

    6. XM_054322264.1XP_054178239.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X5

    RNA

    1. XR_008485207.1 RNA Sequence