Antithrombin (AT)

AT3; ATIII; SERPINC1; Anti-Thrombin Antibodies; Serpin Peptidase Inhibitor Clade C Member 1; Coding Sequence Signal Peptide Antithrombin Part 1

SPN	U532
HGNC	775
MGI	88095
PubMed	17600391
RGD	1307404
UniProt	P01008
Wiki	Antithrombin

Antithrombin is also termed Antithrombin III (AT III). The designations Antithrombin I through to Antithrombin IV originate in early studies carried out in the 1950s by Seegers, Johnson and Fell.Antithrombin I (AT I) refers to the absorption of thrombin onto fibrin after thrombin has activated fibrinogen. Antithrombin II (AT II) refers to a cofactor in plasma, which together with heparin interferes with the interaction of thrombin and fibrinogen. Antithrombin III (AT III) refers to a substance in plasma which inactivates thrombin. Antithrombin IV (AT IV) refers to an antithrombin which becomes activated during and shortly after blood coagulation. Only AT III and possibly AT I are medically significant. AT III is generally referred to solely as "Antithrombin" and it is Antithrombin III that is discussed in this article.

Reference

"Cloning and expression of the cDNA for human antithrombin III."
Nucleic Acids Res. 10:8113-8125(1982) [PubMed] [Europe PMC] [Abstract]

"Isolation and sequence characterization of a cDNA clone of human antithrombin III."
Proc. Natl. Acad. Sci. U.S.A. 80:1845-1848(1983) [PubMed] [Europe PMC] [Abstract]

"Hereditary antithrombin III deficiency: identification of an arginine-406 to methionine point mutation near protease reactive site."
(In) Yoshida T.O., Wilson J.M. (eds.);Molecular approaches to the study and treatment of Human diseases, pp.51-55, Elsevier, Amsterdam (1992)

"Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia."
Biochemistry 32:4216-4224(1993) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"Primary structure of antithrombin-III (heparin cofactor). Partial homology between alpha-1-antitrypsin and antithrombin-III."
(In) Collen D., Wiman B., Verstraete M. (eds.);The physiological inhibitors of blood coagulation and fibrinolysis, pp.43-54, Elsevier, Amsterdam (1979)

"Isolation of a cDNA clone for human antithrombin III."
J. Biol. Chem. 258:8389-8394(1983) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III Utah: proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site."
Biochemistry 27:6171-6178(1988) [PubMed] [Europe PMC] [Abstract]

"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. 89:589-601(1995) [PubMed] [Europe PMC] [Abstract]

"The site in human antithrombin for functional proteolytic cleavage by human thrombin."
FEBS Lett. 126:257-260(1981) [PubMed] [Europe PMC] [Abstract]

"The heparin-binding site of antithrombin III. Identification of a critical tryptophan in the amino acid sequence."
J. Biol. Chem. 259:939-941(1984) [PubMed] [Europe PMC] [Abstract]

"A proteomic analysis of human bile."
Mol. Cell. Proteomics 3:715-728(2004) [PubMed] [Europe PMC] [Abstract]

"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
Proteomics 4:454-465(2004) [PubMed] [Europe PMC] [Abstract]

"Matriptase-3 is a novel phylogenetically preserved membrane-anchored serine protease with broad serpin reactivity."
Biochem. J. 390:231-242(2005) [PubMed] [Europe PMC] [Abstract]

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

"Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach."
Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract]

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]

"Enrichment of glycopeptides for glycan structure and attachment site identification."
Nat. Methods 6:809-811(2009) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Biological implications of a 3 A structure of dimeric antithrombin."
Structure 2:257-270(1994) [PubMed] [Europe PMC] [Abstract]

"The intact and cleaved human antithrombin III complex as a model for serpin-proteinase interactions."
Nat. Struct. Biol. 1:48-54(1994) [PubMed] [Europe PMC] [Abstract]

"The 2.6 A structure of antithrombin indicates a conformational change at the heparin binding site."
J. Mol. Biol. 266:601-609(1997) [PubMed] [Europe PMC] [Abstract]

"Implications for function and therapy of a 2.9 A structure of binary-complexed antithrombin."
J. Mol. Biol. 283:9-14(1998) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III: structural and functional aspects."
Biochimie 72:599-608(1990) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III mutation database: first update. For the Thrombin and its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis."
Thromb. Haemost. 70:361-369(1993) [PubMed] [Europe PMC] [Abstract]

"What do dysfunctional serpins tell us about molecular mobility and disease?"
Nat. Struct. Biol. 2:96-113(1995) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of human antithrombin deficiency."
Hum. Mutat. 7:7-22(1996) [PubMed] [Europe PMC] [Abstract]

"Antithrombin mutation database: 2nd (1997) update."
Thromb. Haemost. 77:197-211(1997) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability."
Proc. Natl. Acad. Sci. U.S.A. 81:289-293(1984) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III Basel. Identification of a Pro-Leu substitution in a hereditary abnormal antithrombin with impaired heparin cofactor activity."
J. Biol. Chem. 261:1174-1176(1986) [PubMed] [Europe PMC] [Abstract]

"Antithrombin-III Denver, a reactive site variant."
J. Biol. Chem. 262:1044-1048(1987) [PubMed] [Europe PMC] [Abstract]

"Antithrombin-III-Hamilton: a gene with a point mutation (guanine to adenine) in codon 382 causing impaired serine protease reactivity."
Blood 72:1518-1523(1988) [PubMed] [Europe PMC] [Abstract]

"Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow."
J. Biol. Chem. 263:5589-5593(1988) [PubMed] [Europe PMC] [Abstract]

"Antithrombin Chicago, amino acid substitution of arginine 393 to histidine."
Thromb. Res. 54:613-619(1989) [PubMed] [Europe PMC] [Abstract]

"Antithrombin Rouen-IV 24 Arg-->Cys. The amino-terminal contribution to heparin binding."
FEBS Lett. 266:163-166(1990) [PubMed] [Europe PMC] [Abstract]

"Antithrombin Dublin (-3 Val-->Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site."
FEBS Lett. 273:87-90(1990) [PubMed] [Europe PMC] [Abstract]

"Important role of arginine 129 in heparin-binding site of antithrombin III. Identification of a novel mutation arginine 129 to glutamine."
J. Biol. Chem. 265:18997-19001(1990) [PubMed] [Europe PMC] [Abstract]

"Site-directed mutagenesis of alanine-382 of human antithrombin III."
FEBS Lett. 280:254-258(1991) [PubMed] [Europe PMC] [Abstract]

"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. 285:248-250(1991) [PubMed] [Europe PMC] [Abstract]

"Antithrombin Budapest 3. An antithrombin variant with reduced heparin affinity resulting from the substitution L99F."
FEBS Lett. 300:241-246(1992) [PubMed] [Europe PMC] [Abstract]

"Antithrombin-III Stockholm: a codon 392 (Gly-->Asp) mutation with normal heparin binding and impaired serine protease reactivity."
Blood 79:1428-1434(1992) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III Nagasaki (Ser116-Pro): a heterozygous variant with defective heparin binding associated with thrombosis."
Blood 81:1300-1305(1993) [PubMed] [Europe PMC] [Abstract]

"A recurrent deletion in the antithrombin gene, AT106-108(-6 bp), identified by DNA heteroduplex detection."
Genomics 16:298-299(1993) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations of antithrombin inducing high-molecular-mass compounds."
Arterioscler. Thromb. 14:1958-1965(1994) [PubMed] [Europe PMC] [Abstract]

"Three novel missense mutations in the antithrombin III (AT3) gene causing recurrent venous thrombosis."
Hum. Genet. 94:509-512(1994) [PubMed] [Europe PMC] [Abstract]

"Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis."
Blood 83:146-151(1994) [PubMed] [Europe PMC] [Abstract]

"Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families."
Blood 84:4209-4213(1994) [PubMed] [Europe PMC] [Abstract]

"Thromboembolic disease due to thermolabile conformational changes of antithrombin Rouen-VI (187 Asn-->Asp)."
J. Clin. Invest. 94:2265-2274(1994) [PubMed] [Europe PMC] [Abstract]

"Two novel antithrombin variants (L99V and Q118P) which alter the heparin binding domain."
Nouv. Rev. Fr. Hematol. 86:268-268(1994)

"Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6."
Thromb. Haemost. 72:534-539(1994) [PubMed] [Europe PMC] [Abstract]

"Antithrombin III Kumamoto II; a single mutation at Arg393-His increased the affinity of antithrombin III for heparin."
Am. J. Hematol. 48:12-18(1995) [PubMed] [Europe PMC] [Abstract]

"Antithrombin Morioka (Cys 95-Arg): a novel missense mutation causing type I antithrombin deficiency."
Thromb. Haemost. 77:403-403(1997) [PubMed] [Europe PMC] [Abstract]

"Impaired cotranslational processing as a mechanism for type I antithrombin deficiency."
Blood 92:4671-4676(1998) [PubMed] [Europe PMC] [Abstract]

"The molecular basis of antithrombin deficiency in Belgian and Dutch families."
Thromb. Haemost. 80:376-381(1998) [PubMed] [Europe PMC] [Abstract]

"Familial overexpression of beta-antithrombin caused by an Asn135-to-Thr substitution."
Blood 93:4242-4247(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the antithrombin gene."
Br. J. Haematol. 110:731-734(2000) [PubMed] [Europe PMC] [Abstract]

"Two novel gene mutations in type I antithrombin deficiency."
Int. J. Hematol. 74:469-472(2001) [PubMed] [Europe PMC] [Abstract]

"Intracerebral hemorrhage associated with a novel antithrombin gene mutation in a neonate."
J. Pediatr. 139:741-743(2001) [PubMed] [Europe PMC] [Abstract]

"Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity."
Thromb. Haemost. 88:436-443(2002) [PubMed] [Europe PMC] [Abstract]

"Antithrombin Phe229Leu: a new homozygous variant leading to spontaneous antithrombin polymerization in vivo associated with severe childhood thrombosis."
Blood 102:919-925(2003) [PubMed] [Europe PMC] [Abstract]

"Five novel and four recurrent point mutations in the antithrombin gene causing venous thrombosis."
Int. J. Hematol. 78:79-83(2003) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of inherited antithrombin deficiency in Portuguese families: identification of genetic alterations and screening for additional thrombotic risk factors."
Am. J. Hematol. 76:163-171(2004) [PubMed] [Europe PMC] [Abstract]

"Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation."
Arch. Ophthalmol. 124:1165-1169(2006) [PubMed] [Europe PMC] [Abstract]

"Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture."
J. Thromb. Haemost. 11:1844-1849(2013) [PubMed] [Europe PMC] [Abstract]