ADAMTS17

ADAM metallopeptidase with thrombospondin type 1 motif, 17 is a protein that in humans is encoded by the ADAMTS17 gene.^[4]

ADAMTS17
Identifiers
Aliases	ADAMTS17, ADAM metallopeptidase with thrombospondin type 1 motif 17, WMS4
External IDs	OMIM: 607511; MGI: 3588195; HomoloGene: 16373; GeneCards: ADAMTS17; OMA:ADAMTS17 - orthologs
Gene location (Mouse) Chr. Chromosome 7 (mouse)[1] Band 7|7 C Start 66,489,483 bp[1] End 66,802,919 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus right lobe of liver tibia gastrocnemius muscle body of pancreas amniotic fluid minor salivary glands germinal epithelium skin of abdomen gastric mucosa Top expressed in upper arm mesenchyme trigeminal ganglion spinal ganglia genital tubercle tail of embryo secondary oocyte peripheral nervous system superior cervical ganglion primary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function peptidase activity metalloendopeptidase activity hydrolase activity metallopeptidase activity metal ion binding nucleic acid binding Cellular component extracellular region Biological process proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 170691 233332 Ensembl n/a ENSMUSG00000058145 UniProt Q8TE56 n/a RefSeq (mRNA) NM_139057 NM_001033877 RefSeq (protein) NP_620688 n/a Location (UCSC) n/a Chr 7: 66.49 – 66.8 Mb PubMed search [2] [3]
Wikidata
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Function

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The protein encoded by this gene has a high sequence similarity to the protein encoded by ADAMTS19, another family member. The function of this protein has not been determined. [provided by RefSeq, Jul 2008].

Clinical significance

Mutations in ADAMTS17 are associated with Weill-Marchesani syndrome.^[5]