• Gene id: 140766

Gene Summary

• Gene Symbol: ADAMTS14   Gene   UCSC   Ensembl
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 14
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 14, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14,
• Gene location: 10q22.1 (70672505: 70762440)     Exons: 25     NC_000010.11
• Gene summary(Entrez): This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin
• OMIM: 602488

Protein Summary

• Protein general information: Q8WXS8  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 14 (ADAM TS 14) (ADAM TS14) (ADAMTS 14) (EC 3.4.24. )
  • Length: 1223  
  • Mass: 133888
  • Tissue specificity: Expressed in retina and at low levels in brain, lung and placenta (PubMed
• Sequence:

  MAPLRALLSYLLPLHCALCAAAGSRTPELHLSGKLSDYGVTVPCSTDFRGRFLSHVVSGPAAASAGSMVVDTPPT
  LPRHSSHLRVARSPLHPGGTLWPGRVGRHSLYFNVTVFGKELHLRLRPNRRLVVPGSSVEWQEDFRELFRQPLRQ
  ECVYTGGVTGMPGAAVAISNCDGLAGLIRTDSTDFFIEPLERGQQEKEASGRTHVVYRREAVQQEWAEPDGDLHN
  EAFGLGDLPNLLGLVGDQLGDTERKRRHAKPGSYSIEVLLVVDDSVVRFHGKEHVQNYVLTLMNIVDEIYHDESL
  GVHINIALVRLIMVGYRQSLSLIERGNPSRSLEQVCRWAHSQQRQDPSHAEHHDHVVFLTRQDFGPSGYAPVTGM
  CHPLRSCALNHEDGFSSAFVIAHETGHVLGMEHDGQGNGCADETSLGSVMAPLVQAAFHRFHWSRCSKLELSRYL
  PSYDCLLDDPFDPAWPQPPELPGINYSMDEQCRFDFGSGYQTCLAFRTFEPCKQLWCSHPDNPYFCKTKKGPPLD
  GTECAPGKWCFKGHCIWKSPEQTYGQDGGWSSWTKFGSCSRSCGGGVRSRSRSCNNPSPAYGGRLCLGPMFEYQV
  CNSEECPGTYEDFRAQQCAKRNSYYVHQNAKHSWVPYEPDDDAQKCELICQSADTGDVVFMNQVVHDGTRCSYRD
  PYSVCARGECVPVGCDKEVGSMKADDKCGVCGGDNSHCRTVKGTLGKASKQAGALKLVQIPAGARHIQIEALEKS
  PHRIVVKNQVTGSFILNPKGKEATSRTFTAMGLEWEDAVEDAKESLKTSGPLPEAIAILALPPTEGGPRSSLAYK
  YVIHEDLLPLIGSNNVLLEEMDTYEWALKSWAPCSKACGGGIQFTKYGCRRRRDHHMVQRHLCDHKKRPKPIRRR
  CNQHPCSQPVWVTEEWGACSRSCGKLGVQTRGIQCLLPLSNGTHKVMPAKACAGDRPEARRPCLRVPCPAQWRLG
  AWSQCSATCGEGIQQRQVVCRTNANSLGHCEGDRPDTVQVCSLPACGGNHQNSTVRADVWELGTPEGQWVPQSEP
  LHPINKISSTEPCTGDRSVFCQMEVLDRYCSIPGYHRLCCVSCIKKASGPNPGPDPGPTSLPPFSTPGSPLPGPQ
  DPADAAEPPGKPTGSEDHQHGRATQLPGALDTSSPGTQHPFAPETPIPGASWSISPTTPGGLPWGWTQTPTPVPE
  DKGQPGEDLRHPGTSLPAASPVT

• Structural information:
  • Protein Domains: (259..46-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (461..55-)
    (/note="Disintegrin-)
    (552..60-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (847..90-)
    (/note="TSP-typ)
  • Interpro: IPR041645  IPR006586  IPR010294  IPR013273  IPR024079   IPR001590  IPR002870  IPR010909  IPR000884  IPR036383  
  • Prosite: PS50215 PS50900 PS50092
  • STRING: ENSP00000362304
• Other Databases: GeneCards:  ADAMTS14  Malacards:  ADAMTS14

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:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0030574	collagen catabolic process	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030199	collagen fibril organization	IEA	biological process

Diseases

Associated diseases	References
Primary progressive multiple sclerosis	PMID:15913795
Multiple sclerosis	PMID:15913795
Osteoarthritis	PMID:18790654
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