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

Gene ID: 81794, updated on 27-Nov-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
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Genomic context

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

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 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

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_001282352.2NP_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_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_017027338.3XP_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

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

  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

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

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

  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