Antithrombin-III

Details

Name
Antithrombin-III
Synonyms
  • AT3
  • ATIII
  • Serpin C1
Gene Name
SERPINC1
Organism
Humans
Amino acid sequence
>lcl|BSEQ0016052|Antithrombin-III
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEK
KATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFA
MTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFG
DKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN
ELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQ
VLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDG
FSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAV
VIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK
Number of residues
464
Molecular Weight
52601.935
Theoretical pI
6.68
GO Classification
Functions
heparin binding / protease binding / serine-type endopeptidase inhibitor activity
Processes
blood coagulation / negative regulation of endopeptidase activity / negative regulation of inflammatory response / regulation of blood coagulation, intrinsic pathway / response to nutrient
Components
blood microparticle / extracellular exosome / extracellular region / extracellular space / plasma membrane
General Function
Serine-type endopeptidase inhibitor activity
Specific Function
Most important serine protease inhibitor in plasma that regulates the blood coagulation cascade. AT-III inhibits thrombin, matriptase-3/TMPRSS7, as well as factors IXa, Xa and XIa. Its inhibitory activity is greatly enhanced in the presence of heparin.
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Secreted
Gene sequence
>lcl|BSEQ0016053|Antithrombin-III (SERPINC1)
ATGTATTCCAATGTGATAGGAACTGTAACCTCTGGAAAAAGGAAGGTTTATCTTTTGTCC
TTGCTGCTCATTGGCTTCTGGGACTGCGTGACCTGTCACGGGAGCCCTGTGGACATCTGC
ACAGCCAAGCCGCGGGACATTCCCATGAATCCCATGTGCATTTACCGCTCCCCGGAGAAG
AAGGCAACTGAGGATGAGGGCTCAGAACAGAAGATCCCGGAGGCCACCAACCGGCGTGTC
TGGGAACTGTCCAAGGCCAATTCCCGCTTTGCTACCACTTTCTATCAGCACCTGGCAGAT
TCCAAGAATGACAATGATAACATTTTCCTGTCACCCCTGAGTATCTCCACGGCTTTTGCT
ATGACCAAGCTGGGTGCCTGTAATGACACCCTCCAGCAACTGATGGAGGTATTTAAGTTT
GACACCATATCTGAGAAAACATCTGATCAGATCCACTTCTTCTTTGCCAAACTGAACTGC
CGACTCTATCGAAAAGCCAACAAATCCTCCAAGTTAGTATCAGCCAATCGCCTTTTTGGA
GACAAATCCCTTACCTTCAATGAGACCTACCAGGACATCAGTGAGTTGGTATATGGAGCC
AAGCTCCAGCCCCTGGACTTCAAGGAAAATGCAGAGCAATCCAGAGCGGCCATCAACAAA
TGGGTGTCCAATAAGACCGAAGGCCGAATCACCGATGTCATTCCCTCGGAAGCCATCAAT
GAGCTCACTGTTCTGGTGCTGGTTAACACCATTTACTTCAAGGGCCTGTGGAAGTCAAAG
TTCAGCCCTGAGAACACAAGGAAGGAACTGTTCTACAAGGCTGATGGAGAGTCGTGTTCA
GCATCTATGATGTACCAGGAAGGCAAGTTCCGTTATCGGCGCGTGGCTGAAGGCACCCAG
GTGCTTGAGTTGCCCTTCAAAGGTGATGACATCACCATGGTCCTCATCTTGCCCAAGCCT
GAGAAGAGCCTGGCCAAGGTAGAGAAGGAACTCACCCCAGAGGTGCTGCAAGAGTGGCTG
GATGAATTGGAGGAGATGATGCTGGTGGTCCACATGCCCCGCTTCCGCATTGAGGACGGC
TTCAGTTTGAAGGAGCAGCTGCAAGACATGGGCCTTGTCGATCTGTTCAGCCCTGAAAAG
TCCAAACTCCCAGGTATTGTTGCAGAAGGCCGAGATGACCTCTATGTCTCAGATGCATTC
CATAAGGCATTTCTTGAGGTAAATGAAGAAGGCAGTGAAGCAGCTGCAAGTACCGCTGTT
GTGATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCAAGGCCAACAGGCCTTTC
CTGGTTTTTATAAGAGAAGTTCCTCTGAACACTATTATCTTCATGGGCAGAGTAGCCAAC
CCTTGTGTTAAGTAA
Chromosome Location
1
Locus
1q23-q25.1
External Identifiers
ResourceLink
UniProtKB IDP01008
UniProtKB Entry NameANT3_HUMAN
GenBank Protein ID179161
GenBank Gene IDM21642
GenAtlas IDSERPINC1
HGNC IDHGNC:775
General References
  1. Bock SC, Wion KL, Vehar GA, Lawn RM: Cloning and expression of the cDNA for human antithrombin III. Nucleic Acids Res. 1982 Dec 20;10(24):8113-25. [PubMed:6298709]
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  3. Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL: Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry. 1993 Apr 27;32(16):4216-24. [PubMed:8476848]
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  8. Lindo VS, Kakkar VV, Learmonth M, Melissari E, Zappacosta F, Panico M, Morris HR: Antithrombin-TRI (Ala382 to Thr) causing severe thromboembolic tendency undergoes the S-to-R transition and is associated with a plasma-inactive high-molecular-weight complex of aggregated antithrombin. Br J Haematol. 1995 Mar;89(3):589-601. [PubMed:7734359]
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  21. Carrell RW, Stein PE, Fermi G, Wardell MR: Biological implications of a 3 A structure of dimeric antithrombin. Structure. 1994 Apr 15;2(4):257-70. [PubMed:8087553]
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  31. Chang JY, Tran TH: Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity. J Biol Chem. 1986 Jan 25;261(3):1174-6. [PubMed:3080419]
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  35. Erdjument H, Lane DA, Panico M, Di Marzo V, Morris HR, Bauer K, Rosenberg RD: Antithrombin Chicago, amino acid substitution of arginine 393 to histidine. Thromb Res. 1989 Jun 15;54(6):613-9. [PubMed:2781509]
  36. Borg JY, Brennan SO, Carrell RW, George P, Perry DJ, Shaw J: Antithrombin Rouen-IV 24 Arg----Cys. The amino-terminal contribution to heparin binding. FEBS Lett. 1990 Jun 18;266(1-2):163-6. [PubMed:2365065]
  37. Daly M, Bruce D, Perry DJ, Price J, Harper PL, O'Meara A, Carrell RW: Antithrombin Dublin (-3 Val----Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS Lett. 1990 Oct 29;273(1-2):87-90. [PubMed:1977621]
  38. Gandrille S, Aiach M, Lane DA, Vidaud D, Molho-Sabatier P, Caso R, de Moerloose P, Fiessinger JN, Clauser E: Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine. J Biol Chem. 1990 Nov 5;265(31):18997-9001. [PubMed:2229057]
  39. Austin RC, Rachubinski RA, Blajchman MA: Site-directed mutagenesis of alanine-382 of human antithrombin III. FEBS Lett. 1991 Mar 25;280(2):254-8. [PubMed:2013320]
  40. Perry DJ, Daly M, Harper PL, Tait RC, Price J, Walker ID, Carrell RW: Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins. FEBS Lett. 1991 Jul 22;285(2):248-50. [PubMed:1906811]
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  42. Blajchman MA, Fernandez-Rachubinski F, Sheffield WP, Austin RC, Schulman S: Antithrombin-III-Stockholm: a codon 392 (Gly----Asp) mutation with normal heparin binding and impaired serine protease reactivity. Blood. 1992 Mar 15;79(6):1428-34. [PubMed:1547341]
  43. Okajima K, Abe H, Maeda S, Motomura M, Tsujihata M, Nagataki S, Okabe H, Takatsuki K: Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis. Blood. 1993 Mar 1;81(5):1300-5. [PubMed:8443391]
  44. Olds RJ, Lane DA, Beresford CH, Abildgaard U, Hughes PM, Thein SL: A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection. Genomics. 1993 Apr;16(1):298-9. [PubMed:8486379]
  45. Emmerich J, Vidaud D, Alhenc-Gelas M, Chadeuf G, Gouault-Heilmann M, Aillaud MF, Aiach M: Three novel mutations of antithrombin inducing high-molecular-mass compounds. Arterioscler Thromb. 1994 Dec;14(12):1958-65. [PubMed:7981186]
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  53. Fitches AC, Appleby R, Lane DA, De Stefano V, Leone G, Olds RJ: Impaired cotranslational processing as a mechanism for type I antithrombin deficiency. Blood. 1998 Dec 15;92(12):4671-6. [PubMed:9845533]
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  59. Mushunje A, Zhou A, Huntington JA, Conard J, Carrell RW: Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity. Thromb Haemost. 2002 Sep;88(3):436-43. [PubMed:12353073]
  60. Picard V, Dautzenberg MD, Villoutreix BO, Orliaguet G, Alhenc-Gelas M, Aiach M: Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis. Blood. 2003 Aug 1;102(3):919-25. Epub 2003 Feb 20. [PubMed:12595305]
  61. Nagaizumi K, Inaba H, Amano K, Suzuki M, Arai M, Fukutake K: Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis. Int J Hematol. 2003 Jul;78(1):79-83. [PubMed:12894857]
  62. David D, Ribeiro S, Ferrao L, Gago T, Crespo F: Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors. Am J Hematol. 2004 Jun;76(2):163-71. [PubMed:15164384]
  63. Kuhli C, Jochmans K, Scharrer I, Luchtenberg M, Hattenbach LO: Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation. Arch Ophthalmol. 2006 Aug;124(8):1165-9. [PubMed:16908819]
  64. Puurunen M, Salo P, Engelbarth S, Javela K, Perola M: Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture. J Thromb Haemost. 2013 Oct;11(10):1844-9. doi: 10.1111/jth.12364. [PubMed:23910795]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00569Fondaparinuxapproved, investigationalyespotentiatorDetails
DB01109Heparinapproved, investigationalyespotentiatorDetails
DB01225EnoxaparinapprovedyespotentiatorDetails
DB05361SR-123781AinvestigationalunknownDetails
DB06271Sulodexideapproved, investigationalyespotentiatorDetails
DB00407Ardeparinapproved, investigational, withdrawnyespotentiatorDetails
DB04464N-FormylmethionineexperimentalunknownDetails
DB06822TinzaparinapprovedyespotentiatorDetails
DB08813Nadroparinapproved, investigationalyespotentiatorDetails
DB06779DalteparinapprovedyespotentiatorDetails
DB11598Antithrombin III humanapprovedunknownagonistDetails
DB09130Copperapproved, investigationalunknownDetails
DB09258Bemiparinapproved, investigationalunknownantagonistDetails
DB06754Danaparoidapproved, withdrawnyespositive allosteric modulatorDetails
DB09141Protamine sulfateapprovedunknownDetails