• Gene id: 56999

Gene Summary

• Gene Symbol: ADAMTS9   Gene   UCSC   Ensembl
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 9
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 9, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9,
• Gene location: 3p14.1 (64687999: 64515653)     Exons: 41     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegri
• OMIM: 605421

Protein Summary

• Protein general information: Q9P2N4  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 9 (ADAM TS 9) (ADAM TS9) (ADAMTS 9) (EC 3.4.24. )
  • Length: 1935  
  • Mass: 216491
  • Tissue specificity: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest expression in heart, placenta and skeletal muscle. {ECO
• Sequence:

  MQFVSWATLLTLLVRDLAEMGSPDAAAAVRKDRLHPRQVKLLETLSEYEIVSPIRVNALGEPFPTNVHFKRTRRS
  INSATDPWPAFASSSSSSTSSQAHYRLSAFGQQFLFNLTANAGFIAPLFTVTLLGTPGVNQTKFYSEEEAELKHC
  FYKGYVNTNSEHTAVISLCSGMLGTFRSHDGDYFIEPLQSMDEQEDEEEQNKPHIIYRRSAPQREPSTGRHACDT
  SEHKNRHSKDKKKTRARKWGERINLAGDVAALNSGLATEAFSAYGNKTDNTREKRTHRRTKRFLSYPRFVEVLVV
  ADNRMVSYHGENLQHYILTLMSIVASIYKDPSIGNLINIVIVNLIVIHNEQDGPSISFNAQTTLKNFCQWQHSKN
  SPGGIHHDTAVLLTRQDICRAHDKCDTLGLAELGTICDPYRSCSISEDSGLSTAFTIAHELGHVFNMPHDDNNKC
  KEEGVKSPQHVMAPTLNFYTNPWMWSKCSRKYITEFLDTGYGECLLNEPESRPYPLPVQLPGILYNVNKQCELIF
  GPGSQVCPYMMQCRRLWCNNVNGVHKGCRTQHTPWADGTECEPGKHCKYGFCVPKEMDVPVTDGSWGSWSPFGTC
  SRTCGGGIKTAIRECNRPEPKNGGKYCVGRRMKFKSCNTEPCLKQKRDFRDEQCAHFDGKHFNINGLLPNVRWVP
  KYSGILMKDRCKLFCRVAGNTAYYQLRDRVIDGTPCGQDTNDICVQGLCRQAGCDHVLNSKARRDKCGVCGGDNS
  SCKTVAGTFNTVHYGYNTVVRIPAGATNIDVRQHSFSGETDDDNYLALSSSKGEFLLNGNFVVTMAKREIRIGNA
  VVEYSGSETAVERINSTDRIEQELLLQVLSVGKLYNPDVRYSFNIPIEDKPQQFYWNSHGPWQACSKPCQGERKR
  KLVCTRESDQLTVSDQRCDRLPQPGHITEPCGTDCDLRWHVASRSECSAQCGLGYRTLDIYCAKYSRLDGKTEKV
  DDGFCSSHPKPSNREKCSGECNTGGWRYSAWTECSKSCDGGTQRRRAICVNTRNDVLDDSKCTHQEKVTIQRCSE
  FPCPQWKSGDWSECLVTCGKGHKHRQVWCQFGEDRLNDRMCDPETKPTSMQTCQQPECASWQAGPWGQCSVTCGQ
  GYQLRAVKCIIGTYMSVVDDNDCNAATRPTDTQDCELPSCHPPPAAPETRRSTYSAPRTQWRFGSWTPCSATCGK
  GTRMRYVSCRDENGSVADESACATLPRPVAKEECSVTPCGQWKALDWSSCSVTCGQGRATRQVMCVNYSDHVIDR
  SECDQDYIPETDQDCSMSPCPQRTPDSGLAQHPFQNEDYRPRSASPSRTHVLGGNQWRTGPWGACSSTCAGGSQR
  RVVVCQDENGYTANDCVERIKPDEQRACESGPCPQWAYGNWGECTKLCGGGIRTRLVVCQRSNGERFPDLSCEIL
  DKPPDREQCNTHACPHDAAWSTGPWSSCSVSCGRGHKQRNVYCMAKDGSHLESDYCKHLAKPHGHRKCRGGRCPK
  WKAGAWSQCSVSCGRGVQQRHVGCQIGTHKIARETECNPYTRPESERDCQGPRCPLYTWRAEEWQECTKTCGEGS
  RYRKVVCVDDNKNEVHGARCDVSKRPVDRESCSLQPCEYVWITGEWSECSVTCGKGYKQRLVSCSEIYTGKENYE
  YSYQTTINCPGTQPPSVHPCYLRDCPVSATWRVGNWGSCSVSCGVGVMQRSVQCLTNEDQPSHLCHTDLKPEERK
  TCRNVYNCELPQNCKEVKRLKGASEDGEYFLMIRGKLLKIFCAGMHSDHPKEYVTLVHGDSENFSEVYGHRLHNP
  TECPYNGSRRDDCQCRKDYTAAGFSSFQKIRIDLTSMQIITTDLQFARTSEGHPVPFATAGDCYSAAKCPQGRFS
  INLYGTGLSLTESARWISQGNYAVSDIKKSPDGTRVVGKCGGYCGKCTPSSGTGLEVRVL

• Structural information:
  • Protein Domains: (293..49-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (509..58-)
    (/note="Disintegrin-)
    (588..64-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (878..93-)
    (/note="TSP-typ)
  • Interpro: IPR041645  IPR010294  IPR013273  IPR024079  IPR012314   IPR001590  IPR002870  IPR000884  IPR036383  
  • Prosite: PS50215 PS51046 PS50092 PS00142
  • STRING: ENSP00000418735
• Other Databases: GeneCards:  ADAMTS9  Malacards:  ADAMTS9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0006516	glycoprotein catabolic process	TAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0031012	extracellular matrix	IDA	cellular component
GO:0006508	proteolysis	IDA	biological process
GO:0008237	metallopeptidase activity	IDA	molecular function
GO:1903671	negative regulation of sprouting angiogenesis	IEA	biological process
GO:0090673	endothelial cell-matrix adhesion	IEA	biological process
GO:0048070	regulation of developmental pigmentation	IEA	biological process
GO:0045636	positive regulation of melanocyte differentiation	IEA	biological process
GO:0010596	negative regulation of endothelial cell migration	IEA	biological process
GO:0009617	response to bacterium	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0003229	ventricular cardiac muscle tissue development	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0003179	heart valve morphogenesis	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	ISS	colocalizes with
GO:0003229	ventricular cardiac muscle tissue development	ISS	biological process
GO:0010596	negative regulation of endothelial cell migration	ISS	biological process
GO:0090673	endothelial cell-matrix adhesion	ISS	biological process
GO:1903671	negative regulation of sprouting angiogenesis	ISS	biological process
GO:0003179	heart valve morphogenesis	ISS	biological process
GO:0030198	extracellular matrix organization	ISS	biological process
GO:0035909	aorta morphogenesis	ISS	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Type 2 diabetes mellitus	KEGG:H00409
Type 2 diabetes mellitus	KEGG:H00409
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray