• Gene id: 11093

Gene Summary

• Gene Symbol: ADAMTS13   Gene   UCSC   Ensembl
• Aliases: ADAM-TS13, ADAMTS-13, C9orf8, VWFCP, vWF-CP
• Gene name: ADAM metallopeptidase with thrombospondin type 1 motif 13
• Alternate names: A disintegrin and metalloproteinase with thrombospondin motifs 13, a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13, vWF-cleaving protease, von Willebrand factor-cleaving protease,
• Gene location: 9q34.2 (133414338: 133459402)     Exons: 31     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Wille
• OMIM: 605175

Protein Summary

• Protein general information: Q76LX8  
  • Name: A disintegrin and metalloproteinase with thrombospondin motifs 13 (ADAM TS 13) (ADAM TS13) (ADAMTS 13) (EC 3.4.24.87) (von Willebrand factor cleaving protease) (vWF CP) (vWF cleaving protease)
  • Length: 1427  
  • Mass: 153604
  • Tissue specificity: Plasma. Expressed primarily in liver. {ECO
• Sequence:

  MHQRHPRARCPPLCVAGILACGFLLGCWGPSHFQQSCLQALEPQAVSSYLSPGAPLKGRPPSPGFQRQRQRQRRA
  AGGILHLELLVAVGPDVFQAHQEDTERYVLTNLNIGAELLRDPSLGAQFRVHLVKMVILTEPEGAPNITANLTSS
  LLSVCGWSQTINPEDDTDPGHADLVLYITRFDLELPDGNRQVRGVTQLGGACSPTWSCLITEDTGFDLGVTIAHE
  IGHSFGLEHDGAPGSGCGPSGHVMASDGAAPRAGLAWSPCSRRQLLSLLSAGRARCVWDPPRPQPGSAGHPPDAQ
  PGLYYSANEQCRVAFGPKAVACTFAREHLDMCQALSCHTDPLDQSSCSRLLVPLLDGTECGVEKWCSKGRCRSLV
  ELTPIAAVHGRWSSWGPRSPCSRSCGGGVVTRRRQCNNPRPAFGGRACVGADLQAEMCNTQACEKTQLEFMSQQC
  ARTDGQPLRSSPGGASFYHWGAAVPHSQGDALCRHMCRAIGESFIMKRGDSFLDGTRCMPSGPREDGTLSLCVSG
  SCRTFGCDGRMDSQQVWDRCQVCGGDNSTCSPRKGSFTAGRAREYVTFLTVTPNLTSVYIANHRPLFTHLAVRIG
  GRYVVAGKMSISPNTTYPSLLEDGRVEYRVALTEDRLPRLEEIRIWGPLQEDADIQVYRRYGEEYGNLTRPDITF
  TYFQPKPRQAWVWAAVRGPCSVSCGAGLRWVNYSCLDQARKELVETVQCQGSQQPPAWPEACVLEPCPPYWAVGD
  FGPCSASCGGGLRERPVRCVEAQGSLLKTLPPARCRAGAQQPAVALETCNPQPCPARWEVSEPSSCTSAGGAGLA
  LENETCVPGADGLEAPVTEGPGSVDEKLPAPEPCVGMSCPPGWGHLDATSAGEKAPSPWGSIRTGAQAAHVWTPA
  AGSCSVSCGRGLMELRFLCMDSALRVPVQEELCGLASKPGSRREVCQAVPCPARWQYKLAACSVSCGRGVVRRIL
  YCARAHGEDDGEEILLDTQCQGLPRPEPQEACSLEPCPPRWKVMSLGPCSASCGLGTARRSVACVQLDQGQDVEV
  DEAACAALVRPEASVPCLIADCTYRWHVGTWMECSVSCGDGIQRRRDTCLGPQAQAPVPADFCQHLPKPVTVRGC
  WAGPCVGQGTPSLVPHEEAAAPGRTTATPAGASLEWSQARGLLFSPAPQPRRLLPGPQENSVQSSACGRQHLEPT
  GTIDMRGPGQADCAVAIGRPLGEVVTLRVLESSLNCSAGDMLLLWGRLTWRKMCRKLLDMTFSSKTNTLVVRQRC
  GRPGGGVLLRYGSQLAPETFYRECDMQLFGPWGEIVSPSLSPATSNAGGCRLFINVAPHARIAIHALATNMGAGT
  EGANASYILIRDTHSLRTTAFHGQQVLYWESESSQAEMEFSEGFLKAQASLRGQYWTLQSWVPEMQDPQSWKGKE
  GT

• Structural information:
  • Protein Domains: (80..28-)
    (/note="Peptidase-M12B)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00276-)
    (287..38-)
    (/note="Disintegrin-)
    (384..43-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (682..73-)
    (/note="TSP-type)
  • Interpro: IPR041645  IPR006586  IPR013273  IPR039806  IPR024079   IPR001590  IPR035914  IPR000884  IPR036383  
  • Prosite: PS50215 PS50092 PS00142
  • PDB: 3GHM 3GHN 3VN4 6QIG
  • PDBsum: 3GHM 3GHN 3VN4 6QIG
  • DIP: 36050
  • STRING: ENSP00000360997
• Other Databases: GeneCards:  ADAMTS13  Malacards:  ADAMTS13

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:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0007599	hemostasis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007596	blood coagulation	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0070670	response to interleukin-4	IEA	biological process
GO:0035864	response to potassium ion	IEA	biological process
GO:0034612	response to tumor necrosis factor	IEA	biological process
GO:0034341	response to interferon-gamma	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0071353	cellular response to interleukin-4	IEA	biological process
GO:0014075	response to amine	IEA	biological process
GO:0004175	endopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0043171	peptide catabolic process	IDA	biological process
GO:0006508	proteolysis	IDA	biological process
GO:0009986	cell surface	NAS	cellular component
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005178	integrin binding	TAS	molecular function
GO:0030168	platelet activation	NAS	biological process
GO:0009100	glycoprotein metabolic process	NAS	biological process
GO:0008270	zinc ion binding	TAS	molecular function
GO:0007160	cell-matrix adhesion	NAS	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:0016485	protein processing	TAS	biological process
GO:0007229	integrin-mediated signaling pathway	NAS	biological process
GO:0031012	extracellular matrix	TAS	cellular component

Diseases

Associated diseases	References
Thrombotic thrombocytopenic purpura	KEGG:H00225
Thrombotic thrombocytopenic purpura	KEGG:H00225
Hepatic veno-occlusive disease	PMID:12040478
Atypical hemolytic-uremic syndrome	PMID:12640381
Thrombotic thrombocytopenic purpura	PMID:9129011
Intravascular coagulation	PMID:16189276
HELLP syndrome	PMID:12969811
systemic scleroderma	PMID:12935979
Systemic lupus erythematosus	PMID:12935979
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray