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

    Gene ID: 81794, updated on 14-Nov-2024

    Summary

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    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
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    Genomic context

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    See ADAMTS10 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8580240..8610715, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8567599..8598065, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Faivre L, et al. Am J Med Genet A, 2003 Dec 1. PMID 14598350
    2. A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. Apte SS. Int J Biochem Cell Biol, 2004 Jun. PMID 15094112
    3. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Dagoneau N, et al. Am J Hum Genet, 2004 Nov. PMID 15368195, Free PMC Article
    4. Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles. Kuchtey J, et al. Invest Ophthalmol Vis Sci, 2013 Mar 13. PMID 23422823, Free PMC Article
    5. SuperTAG methylation-specific digital karyotyping reveals uremia-induced epigenetic dysregulation of atherosclerosis-related genes. Zawada AM, et al. Circ Cardiovasc Genet, 2012 Dec. PMID 23074332

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
      Title: A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart.
    2. ADAMTS10 inhibits aggressiveness via JAK/STAT/c-MYC pathway and reprograms macrophage to create an anti-malignant microenvironment in gastric cancer.
      Title: ADAMTS10 inhibits aggressiveness via JAK/STAT/c-MYC pathway and reprograms macrophage to create an anti-malignant microenvironment in gastric cancer.
    3. Using siRNA, over-expression and mutagenesis, it was found ADAMTS6 inhibits and ADAMTS10 is required for focal adhesions, epithelial cell-cell junction formation, and microfibril deposition.
      Title: ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions.
    4. These findings support the Gly661Arg mutation of ADAMTS10 as the likely cause of POAG in beagles.
      Title: Screening ADAMTS10 in dog populations supports Gly661Arg as the glaucoma-causing variant in beagles.
    5. ADAMTS10 participates in microfibril biogenesis rather than in fibrillin-1 turnover
      Title: ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts.
    6. Homozygous mutation in ADAMTS10 causes lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
      Title: Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
    7. Mutations in ADAMTS10 gene is not responsible for microspherophakia.
      Title: Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.
    8. infer that folding of the complex C-terminal ancillary domain is the rate-limiting step in biosynthesis of ADAMTS10, and that it (but not catalytic domain) is sensitive to subtle changes in efficiency of signal peptide cleavage.
      Title: Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme.
    9. Expression in human colonic cell lines.
      Title: ADAM-15 inhibits wound healing in human intestinal epithelial cell monolayers.
    10. ADAMTS10 plays a major role in growth and in skin, lens, and heart development in humans.
      Title: ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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

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    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)

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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.

    Genomic

    1. NG_011840.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001282352.2 → NP_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:497 → 541
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:193 → 305
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:556 → 587
      PLAC; PLAC (protease and lacunin) domain

    2. NM_030957.4 → NP_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:550 → 602
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:239 → 454
      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:239 → 457
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:73 → 179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:706 → 818
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1069 → 1100
      PLAC; PLAC (protease and lacunin) 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_000019.10 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017027338.3 → XP_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:550 → 602
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:239 → 454
      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:239 → 457
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:73 → 179
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:706 → 818
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1069 → 1100
      PLAC; PLAC (protease and lacunin) domain

    2. XM_047439480.1 → XP_047295436.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

    3. XM_047439481.1 → XP_047295437.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

    4. XM_047439483.1 → XP_047295439.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4

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

    6. XM_047439484.1 → XP_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_054322261.1 → XP_054178236.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2

    2. XM_054322259.1 → XP_054178234.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

    3. XM_054322260.1 → XP_054178235.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

    4. XM_054322263.1 → XP_054178238.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4

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

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

    RNA

    1. XR_008485207.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H324.2 GenPept UniProtKB/Swiss-Prot:Q9H324

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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