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

Gene ID: 81794, updated on 3-Mar-2019

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
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

Genomic context

See ADAMTS10 in Genome Data Viewer
Location:
19p13.2
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (8580240..8610735, 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 long intergenic non-protein coding RNA 1862 Neighboring gene nuclear factor interleukin-3-regulated protein-like

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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Weill-Marchesani syndrome 1
MedGen: C4552002 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

Pathways from BioSystems

  • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
    Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
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
PubMed 
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
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    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/Swiss-Prot
    Q9H324
    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
    Q9H324
    UniProtKB/TrEMBL
    A0A0A0MQW6, Q59FE5, Q6ZN14
    Related
    ENSP00000471851.1, ENST00000597188.5
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    8580240..8610735 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006722917.3XP_006722980.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X2

    Conserved Domains (4) summary
    smart00209
    Location:182234
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:338450
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:750781
    PLAC; PLAC (protease and lacunin) domain
    cl00064
    Location:186
    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_017027339.1XP_016882828.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X3

  3. XM_017027340.1XP_016882829.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X4

  4. XM_017027338.2XP_016882827.1  A disintegrin and metalloproteinase with thrombospondin motifs 10 isoform X1

    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

RNA

  1. XR_001753770.1 RNA Sequence

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