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

Gene ID: 81794, updated on 6-Jul-2014
Official Symbol
ADAMTS10provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif, 10provided by HGNC
Primary source
HGNC:13201
See related
Ensembl:ENSG00000142303; HPRD:07470; MIM:608990; Vega:OTTHUMG00000182216
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]
See ADAMTS10 in Epigenomics, MapViewer
Location:
19p13.2
Exon count :
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (8580240..8610753, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8645124..8675588, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 414 Neighboring gene myosin IF Neighboring gene actin-like 9 Neighboring gene ribosomal protein L23a pseudogene 78

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Weill-Marchesani syndrome 1
MedGen: C1869114 OMIM: 277600 GeneReviews: Weill-Marchesani Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular matrix IDA
Inferred from Direct Assay
more info
 
microfibril IDA
Inferred from Direct Assay
more info
 
Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 10
Names
A disintegrin and metalloproteinase with thrombospondin motifs 10
ADAM-TS 10
zinc metalloendopeptidase
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10

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 

    Range
    4968..35463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282352.1NP_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
    UniProtKB/Swiss-Prot
    Q9H324
    Conserved Domains (3) summary
    smart00209
    Location:497541
    Blast Score: 85
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:193305
    Blast Score: 334
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:555587
    Blast Score: 115
    PLAC; PLAC (protease and lacunin) domain
  2. NM_030957.3NP_112219.3  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform 1 preproprotein

    See proteins identical to NP_112219.3

    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/TrEMBL
    Q59FE5
    UniProtKB/TrEMBL
    Q6ZN14
    UniProtKB/Swiss-Prot
    Q9H324
    Related
    ENSP00000471851, OTTHUMP00000268655, ENST00000597188, OTTHUMT00000460085
    Conserved Domains (5) summary
    smart00209
    Location:550602
    Blast Score: 170
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:239454
    Blast Score: 864
    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 ...
    pfam01562
    Location:39180
    Blast Score: 258
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:706818
    Blast Score: 334
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10681100
    Blast Score: 118
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    8580240..8610753
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722917.1XP_006722980.1  

    Conserved Domains (4) summary
    smart00209
    Location:182234
    Blast Score: 159
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:338450
    Blast Score: 334
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:749781
    Blast Score: 111
    PLAC; PLAC (protease and lacunin) domain
    cl00064
    Location:186
    Blast Score: 369
    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 ...
  2. XM_006722916.1XP_006722979.1  

    See proteins identical to XP_006722979.1

    Conserved Domains (5) summary
    smart00209
    Location:550602
    Blast Score: 170
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:239454
    Blast Score: 864
    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 ...
    pfam01562
    Location:39180
    Blast Score: 258
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:706818
    Blast Score: 334
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10681100
    Blast Score: 118
    PLAC; PLAC (protease and lacunin) domain
  3. XM_005272499.1XP_005272556.1  

    Conserved Domains (3) summary
    smart00209
    Location:73125
    Blast Score: 156
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:229341
    Blast Score: 334
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:591623
    Blast Score: 109
    PLAC; PLAC (protease and lacunin) domain
  4. XM_005272500.1XP_005272557.1  

    Conserved Domains (3) summary
    smart00209
    Location:71123
    Blast Score: 156
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:227339
    Blast Score: 334
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:589621
    Blast Score: 109
    PLAC; PLAC (protease and lacunin) domain

RNA

  1. XR_430156.1 RNA Sequence

  2. XR_430157.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    8300167..8330766
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    8644795..8675309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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