• Gene id: 9510

Gene Summary

• Gene Symbol: ADAMTS1   Gene   UCSC   Ensembl
• Aliases: C3-C5, METH1
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 1
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 1, ADAM-TS 1, ADAM-TS1, ADAMTS-1, METH-1, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1, human metalloproteinase with thrombospondin type 1 motif,
• Gene location: 21q21.3 (26845408: 26836286)     Exons: 9     NC_000021.9
• 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: 605174

Protein Summary

• Protein general information: Q9UHI8  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAM TS 1) (ADAM TS1) (ADAMTS 1) (EC 3.4.24. ) (METH 1)
  • Length: 967  
  • Mass: 105,358
• Sequence:

  MQRAVPEGFGRRKLGSDMGNAERAPGSRSFGPVPTLLLLAAALLAVSDALGRPSEEDEELVVPELERAPGHGTTR
  LRLHAFDQQLDLELRPDSSFLAPGFTLQNVGRKSGSETPLPETDLAHCFYSGTVNGDPSSAAALSLCEGVRGAFY
  LLGEAYFIQPLPAASERLATAAPGEKPPAPLQFHLLRRNRQGDVGGTCGVVDDEPRPTGKAETEDEDEGTEGEDE
  GAQWSPQDPALQGVGQPTGTGSIRKKRFVSSHRYVETMLVADQSMAEFHGSGLKHYLLTLFSVAARLYKHPSIRN
  SVSLVVVKILVIHDEQKGPEVTSNAALTLRNFCNWQKQHNPPSDRDAEHYDTAILFTRQDLCGSQTCDTLGMADV
  GTVCDPSRSCSVIEDDGLQAAFTTAHELGHVFNMPHDDAKQCASLNGVNQDSHMMASMLSNLDHSQPWSPCSAYM
  ITSFLDNGHGECLMDKPQNPIQLPGDLPGTSYDANRQCQFTFGEDSKHCPDAASTCSTLWCTGTSGGVLVCQTKH
  FPWADGTSCGEGKWCINGKCVNKTDRKHFDTPFHGSWGMWGPWGDCSRTCGGGVQYTMRECDNPVPKNGGKYCEG
  KRVRYRSCNLEDCPDNNGKTFREEQCEAHNEFSKASFGSGPAVEWIPKYAGVSPKDRCKLICQAKGIGYFFVLQP
  KVVDGTPCSPDSTSVCVQGQCVKAGCDRIIDSKKKFDKCGVCGGNGSTCKKISGSVTSAKPGYHDIITIPTGATN
  IEVKQRNQRGSRNNGSFLAIKAADGTYILNGDYTLSTLEQDIMYKGVVLRYSGSSAALERIRSFSPLKEPLTIQV
  LTVGNALRPKIKYTYFVKKKKESFNAIPTFSAWVIEEWGECSKSCELGWQRRLVECRDINGQPASECAKEVKPAS
  TRPCADHPCPQWQLGEWSSCSKTCGKGYKKRSLKCLSHDGGVLSHESCDPLKKPKHFIDFCTMAECS

• Structural information:
  • Protein Domains: Peptidase (258-467)
    Disintegrin (476-559)
    TSP (559-614)
    TSP (854-905)
    (908-967)
  • Interpro: IPR006586  IPR010294  IPR024079  IPR013274  IPR001590   IPR002870  IPR000884  IPR036383  
  • Prosite: PS50215 PS50092 PS00142
  • PDB: 2JIH 2V4B 3Q2G 3Q2H
  • PDBsum: 2JIH 2V4B 3Q2G 3Q2H
  • STRING: ENSP00000284984
• Other Databases: GeneCards:  ADAMTS1  Malacards:  ADAMTS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001542	ovulation from ovarian follicle	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005604	basement membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	TAS	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0044691	tooth eruption	IEA	biological process
GO:0060347	heart trabecula formation	IEA	biological process
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:0071374	cellular response to parathyroid hormone stimulus	IEA	biological process
GO:0071380	cellular response to prostaglandin E stimulus	IEA	biological process
GO:0001542	ovulation from ovarian follicle	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005578	proteinaceous extracellular matrix	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0008201	heparin binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0008285	negative regulation of cell proliferation	TAS	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0030728	ovulation	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0044691	tooth eruption	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0060347	heart trabecula formation	IEA	biological process
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:0071374	cellular response to parathyroid hormone stimulus	IEA	biological process
GO:0071380	cellular response to prostaglandin E stimulus	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0007229	integrin-mediated signaling pathway	TAS	biological process
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0008285	negative regulation of cell proliferation	TAS	biological process

Diseases

Associated diseases	References
Coronary heart disease	GAD: 19023099
Myocardial Infarction	GAD: 19023099
Brain ischemia	GAD: 19023099
Cardiovascular disease	GAD: 17975119
Arterial thrombosis	GAD: 19023099
Stroke	GAD: 19023099
Polycystic ovary syndrome (PCOS)	INFBASE: 24646063
Unexplained infertility	INFBASE: 25682117
Female infertility	INFBASE: 20655981
Male factor infertility	MIK: 26888488
Fertilizing defects	MIK: 20655981
Chronic renal failure	GAD: 21085059
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 29737873
Male infertility	MIK: 26888488

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26888488	Male infertility			70 (60 infertile (20 normozoospermia, 20 oligozoopsermia, 20 ADAMTS5), 10 healthy semen donors)	Male infertility	ADAMTS1 ADAMTS5
29737873	Azoospermia, Male infertility			15 (5 obstructive azoospermia, 10 non obstructive azoospermia)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881