• Gene id: 11085

Gene Summary

• Gene Symbol: ADAM30   Gene   UCSC   Ensembl
• Aliases: svph4
• Gene name: ADAM metallopeptidase domain 30
• Alternate names: disintegrin and metalloproteinase domain-containing protein 30, a disintegrin and metalloproteinase domain 30,
• Gene location: 1p12 (119896514: 119893532)     Exons: 1     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes
• OMIM: 604779

Protein Summary

• Protein general information: Q9UKF2  
  • Name: Disintegrin and metalloproteinase domain containing protein 30 (ADAM 30) (EC 3.4.24. )
  • Length: 790  
  • Mass: 88940
  • Tissue specificity: Expressed in brain neurons (at protein level) (PubMed
• Sequence:

  MRSVQIFLSQCRLLLLLVPTMLLKSLGEDVIFHPEGEFDSYEVTIPEKLSFRGEVQGVVSPVSYLLQLKGKKHVL
  HLWPKRLLLPRHLRVFSFTEHGELLEDHPYIPKDCNYMGSVKESLDSKATISTCMGGLRGVFNIDAKHYQIEPLK
  ASPSFEHVVYLLKKEQFGNQVCGLSDDEIEWQMAPYENKARLRDFPGSYKHPKYLELILLFDQSRYRFVNNNLSQ
  VIHDAILLTGIMDTYFQDVRMRIHLKALEVWTDFNKIRVGYPELAEVLGRFVIYKKSVLNARLSSDWAHLYLQRK
  YNDALAWSFGKVCSLEYAGSVSTLLDTNILAPATWSAHELGHAVGMSHDEQYCQCRGRLNCIMGSGRTGFSNCSY
  ISFFKHISSGATCLNNIPGLGYVLKRCGNKIVEDNEECDCGSTEECQKDRCCQSNCKLQPGANCSIGLCCHDCRF
  RPSGYVCRQEGNECDLAEYCDGNSSSCPNDVYKQDGTPCKYEGRCFRKGCRSRYMQCQSIFGPDAMEAPSECYDA
  VNLIGDQFGNCEITGIRNFKKCESANSICGRLQCINVETIPDLPEHTTIISTHLQAENLMCWGTGYHLSMKPMGI
  PDLGMINDGTSCGEGRVCFKKNCVNSSVLQFDCLPEKCNTRGVCNNRKNCHCMYGWAPPFCEEVGYGGSIDSGPP
  GLLRGAIPSSIWVVSIIMFRLILLILSVVFVFFRQVIGNHLKPKQEKMPLSKAKTEQEESKTKTVQEESKTKTGQ
  EESEAKTGQEESKAKTGQEESKANIESKRPKAKSVKKQKK

• Structural information:
  • Protein Domains: (203..39-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (399..48-)
    (/note="Disintegrin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00068-)
    (629..66-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProR-)
  • Interpro: IPR006586  IPR018358  IPR001762  IPR036436  IPR013032   IPR000742  IPR024079  IPR001590  IPR002870  IPR034027  
  • Prosite: PS50215 PS00427 PS50214 PS01186 PS50026
  • CDD: cd04269
  • STRING: ENSP00000358407
• Other Databases: GeneCards:  ADAM30  Malacards:  ADAM30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007339	binding of sperm to zona pellucida	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1990913	sperm head plasma membrane	IEA	cellular component
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray