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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 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
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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

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