• Gene id: 170691

Gene Summary

• Gene Symbol: ADAMTS17   Gene   UCSC   Ensembl
• Aliases: WMS4
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 17
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 17, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17,
• Gene location: 15q26.3 (100342923: 99971436)     Exons: 32     NC_000015.10
• Gene summary(Entrez): 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 disintegri
• OMIM: 125220

Protein Summary

• Protein general information: Q8TE56  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 17 (ADAM TS 17) (ADAM TS17) (ADAMTS 17) (EC 3.4.24. )
  • Length: 1095  
  • Mass: 121127
  • Tissue specificity: Isoform 1 and isoform 2 are expressed at high levels in the lung, brain, whole eye and retina. Isoform 1 shows a weaker expression in the heart, kidney and skeletal muscle. Isoform 2 shows a weaker expression in the kidney, bone marrow
• Sequence:

  MCDGALLPPLVLPVLLLLVWGLDPGTAVGDAAADVEVVLPWRVRPDDVHLPPLPAAPGPRRRRRPRTPPAAPRAR
  PGERALLLHLPAFGRDLYLQLRRDLRFLSRGFEVEEAGAARRRGRPAELCFYSGRVLGHPGSLVSLSACGAAGGL
  VGLIQLGQEQVLIQPLNNSQGPFSGREHLIRRKWSLTPSPSAEAQRPEQLCKVLTEKKKPTWGRPSRDWRERRNA
  IRLTSEHTVETLVVADADMVQYHGAEAAQRFILTVMNMVYNMFQHQSLGIKINIQVTKLVLLRQRPAKLSIGHHG
  ERSLESFCHWQNEEYGGARYLGNNQVPGGKDDPPLVDAAVFVTRTDFCVHKDEPCDTVGIAYLGGVCSAKRKCVL
  AEDNGLNLAFTIAHELGHNLGMNHDDDHSSCAGRSHIMSGEWVKGRNPSDLSWSSCSRDDLENFLKSKVSTCLLV
  TDPRSQHTVRLPHKLPGMHYSANEQCQILFGMNATFCRNMEHLMCAGLWCLVEGDTSCKTKLDPPLDGTECGADK
  WCRAGECVSKTPIPEHVDGDWSPWGAWSMCSRTCGTGARFRQRKCDNPPPGPGGTHCPGASVEHAVCENLPCPKG
  LPSFRDQQCQAHDRLSPKKKGLLTAVVVDDKPCELYCSPLGKESPLLVADRVLDGTPCGPYETDLCVHGKCQKIG
  CDGIIGSAAKEDRCGVCSGDGKTCHLVKGDFSHARGTALKDSGKGSINSDWKIELPGEFQIAGTTVRYVRRGLWE
  KISAKGPTKLPLHLMVLLFHDQDYGIHYEYTVPVNRTAENQSEPEKPQDSLFIWTHSGWEGCSVQCGGGERRTIV
  SCTRIVNKTTTLVNDSDCPQASRPEPQVRRCNLHPCQSRWVAGPWSPCSATCEKGFQHREVTCVYQLQNGTHVAT
  RPLYCPGPRPAAVQSCEGQDCLSIWEASEWSQCSASCGKGVWKRTVACTNSQGKCDASTRPRAEEACEDYSGCYE
  WKTGDWSTCSSTCGKGLQSRVVQCMHKVTGRHGSECPALSKPAPYRQCYQEVCNDRINANTITSPRLAALTYKCT
  RDQWTVYCRVIREKNLCQDMRWYQRCCQTCRDFYANKMRQPPPNS

• Structural information:
  • Protein Domains: (232..45-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (453..54-)
    (/note="Disintegrin-)
    (543..59-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (800..86-)
    (/note="TSP-typ)
  • Interpro: IPR041645  IPR006586  IPR010294  IPR013273  IPR024079   IPR001590  IPR002870  IPR010909  IPR000884  IPR036383  IPR013087  
  • Prosite: PS50215 PS50900 PS50092 PS00142
  • STRING: ENSP00000268070
• Other Databases: GeneCards:  ADAMTS17  Malacards:  ADAMTS17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function

Diseases

Associated diseases	References
Weill-Marchesani syndrome	KEGG:H00673
Weill-Marchesani syndrome	KEGG:H00673
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq