ADAMTS17 (NM_139057) - ADAM metallopeptidase with thrombospondin type 1 motif 17
A Disintegrin And Metalloproteinase With Thrombospondin Motifs 17 Preproprotein
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Protein summary
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 encoded preproprotein is proteolytically processed to generate the mature protein, which may promote breast cancer cell growth and survival. Mutations in this gene are associated with a Weill-Marchesani-like syndrome, which is characterized by lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. [provided by RefSeq, May 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Evidence data:
Transcript exon combination :: AJ315735.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350]
- Strand
- -
- Chromosome
- 15
- Protein
- 1095 residues
- All mutations
- 269
- PTM sites
- 3
- CDS
- 100,514,606 - 100,882,104
- Transcription
- 100,511,642 - 100,882,183
Usage summary
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PTM site
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Kinase, PTM site or protein
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