ADAM30 (ADAM metallopeptidase domain 30)

Gene

• Entrez ID: 11085
• Gene name: ADAM metallopeptidase domain 30
• Gene symbol: ADAM30
• Synonyms: svph4
• Chromosome: 1
• Chromosome location: 1p12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT766148	hsa-miR-1321	CLIP-seq
MIRT766149	hsa-miR-1827	CLIP-seq
MIRT766150	hsa-miR-23a	CLIP-seq
MIRT766151	hsa-miR-23b	CLIP-seq
MIRT766152	hsa-miR-23c	CLIP-seq
MIRT766153	hsa-miR-2467-3p	CLIP-seq
MIRT766154	hsa-miR-3126-5p	CLIP-seq
MIRT766155	hsa-miR-3166	CLIP-seq
MIRT766156	hsa-miR-3612	CLIP-seq
MIRT766157	hsa-miR-4419a	CLIP-seq
MIRT766158	hsa-miR-4466	CLIP-seq
MIRT766159	hsa-miR-4510	CLIP-seq
MIRT766160	hsa-miR-4717-3p	CLIP-seq
MIRT766161	hsa-miR-4739	CLIP-seq
MIRT766162	hsa-miR-4756-5p	CLIP-seq
MIRT766163	hsa-miR-4802-3p	CLIP-seq
MIRT766164	hsa-miR-490-5p	CLIP-seq
MIRT766165	hsa-miR-650	CLIP-seq
MIRT766166	hsa-miR-675	CLIP-seq
MIRT766150	hsa-miR-23a	CLIP-seq
MIRT766151	hsa-miR-23b	CLIP-seq
MIRT766152	hsa-miR-23c	CLIP-seq
MIRT766158	hsa-miR-4466	CLIP-seq
MIRT766160	hsa-miR-4717-3p	CLIP-seq
MIRT766163	hsa-miR-4802-3p	CLIP-seq
MIRT766164	hsa-miR-490-5p	CLIP-seq
MIRT766166	hsa-miR-675	CLIP-seq
MIRT2167118	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004222	Function	Metalloendopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	27333034
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0007339	Process	Binding of sperm to zona pellucida	TAS
GO:0008237	Function	Metallopeptidase activity	TAS	10512762
GO:0008270	Function	Zinc ion binding	TAS	10512762
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:1990913	Component	Sperm head plasma membrane	IEA

Other IDs

• MIM: 604779
• HGNC: 208
• e!Ensembl: ENSG00000134249

Protein

• UniProt ID: Q9UKF2
• Protein name: Disintegrin and metalloproteinase domain-containing protein 30 (ADAM 30) (EC 3.4.24.-)
• Protein function: Plays a role in lysosomal amyloid precursor protein (APP) processing by cleaving and activating CTSD/cathepsin D which leads to APP degradation (PubMed:27333034).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01562	Pep_M12B_propep	30 → 160	Reprolysin family propeptide	Family
  PF01421	Reprolysin	203 → 393	Reprolysin (M12B) family zinc metalloprotease	Domain
  PF00200	Disintegrin	408 → 480	Disintegrin	Domain
  PF08516	ADAM_CR	485 → 603	ADAM cysteine-rich	Family

• Sequence:

  MRSVQIFLSQCRLLLLLVPTMLLKSLGEDVIFHPEGEFDSYEVTIPEKLSFRGEVQGVVS
  PVSYLLQLKGKKHVLHLWPKRLLLPRHLRVFSFTEHGELLEDHPYIPKDCNYMGSVKESL
  DSKATISTCMGGLRGVFNIDAKHYQIEPLKASPSFEHVVYLLKKEQFGNQVCGLSDDEIE
  WQMAPYENKARLRDFPGSYKHPKYLELILLFDQSRYRFVNNNLSQVIHDAILLTGIMDTY
  FQDVRMRIHLKALEVWTDFNKIRVGYPELAEVLGRFVIYKKSVLNARLSSDWAHLYLQRK
  YNDALAWSFGKVCSLEYAGSVSTLLDTNILAPATWSAHELGHAVGMSHDEQYCQCRGRLN
  CIMGSGRTGFSNCSYISFFKHISSGATCLNNIPGLGYVLKRCGNKIVEDNEECDCGSTEE
  CQKDRCCQSNCKLQPGANCSIGLCCHDCRFRPSGYVCRQEGNECDLAEYCDGNSSSCPND
  VYKQDGTPCKYEGRCFRKGCRSRYMQCQSIFGPDAMEAPSECYDAVNLIGDQFGNCEITG
  IRNFKKCESANSICGRLQCINVETIPDLPEHTTIISTHLQAENLMCWGTGYHLSMKPMGI
  PDLGMINDGTSCGEGRVCFKKNCVNSSVLQFDCLPEKCNTRGVCNNRKNCHCMYGWAPPF
  CEEVGYGGSIDSGPPGLLRGAIPSSIWVVSIIMFRLILLILSVVFVFFRQVIGNHLKPKQ
  EKMPLSKAKTEQEESKTKTVQEESKTKTGQEESEAKTGQEESKAKTGQEESKANIESKRP
  KAKSVKKQKK

• Sequence length: 790

Pathways

Reactome:

Interaction With Cumulus Cells And The Zona Pellucida

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683

Unknown
Disease name	Disease term	dbSNP ID	References
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26192919