MGP Database

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MGP000228

UniProt Annotations

Entry Information
Gene Nameserpin peptidase inhibitor, clade C (antithrombin), member 1
Protein EntryANT3_HUMAN
UniProt IDP01008
SpeciesHuman
Comments
Comment typeDescription
DiseaseAntithrombin III deficiency (AT3D) [MIM:613118]: An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations. {ECO:0000269|PubMed:10997988, ECO:0000269|PubMed:11713457, ECO:0000269|PubMed:11794707, ECO:0000269|PubMed:12353073, ECO:0000269|PubMed:12595305, ECO:0000269|PubMed:12894857, ECO:0000269|PubMed:15164384, ECO:0000269|PubMed:1547341, ECO:0000269|PubMed:1555650, ECO:0000269|PubMed:16908819, ECO:0000269|PubMed:1906811, ECO:0000269|PubMed:2229057, ECO:0000269|PubMed:2365065, ECO:0000269|PubMed:23910795, ECO:0000269|PubMed:2781509, ECO:0000269|PubMed:3080419, ECO:0000269|PubMed:3162733, ECO:0000269|PubMed:3179438, ECO:0000269|PubMed:3191114, ECO:0000269|PubMed:3805013, ECO:0000269|PubMed:6582486, ECO:0000269|PubMed:7734359, ECO:0000269|PubMed:7832187, ECO:0000269|PubMed:7878627, ECO:0000269|PubMed:7959685, ECO:0000269|PubMed:7981186, ECO:0000269|PubMed:7989582, ECO:0000269|PubMed:7994035, ECO:0000269|PubMed:8274732, ECO:0000269|PubMed:8443391, ECO:0000269|PubMed:8486379, ECO:0000269|PubMed:9031473, ECO:0000269|PubMed:9157604, ECO:0000269|PubMed:9759613, ECO:0000269|PubMed:9845533, ECO:0000269|Ref.3, ECO:0000269|Ref.53}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMost 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. {ECO:0000269|PubMed:15853774}.
Mass SpectrometryMass=57863; Method=Electrospray; Range=33-464; Evidence={ECO:0000269|PubMed:7734359};
Mass SpectrometryMass=57911; Method=Electrospray; Range=33-464; Note=Variant Thr-414.; Evidence={ECO:0000269|PubMed:7734359};
PtmPhosphorylation sites are present in the extracellular medium.
SimilarityBelongs to the serpin family. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space.
SubunitForms protease inhibiting heterodimer with TMPRSS7.
Tissue SpecificityFound in plasma.
Web ResourceName=Antithrombin mutation database; URL="http://www1.imperial.ac.uk/medicine/about/divisions/is/haemo/coag/antithrombin/";
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/serpinc1/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=SERPINC1";
Web ResourceName=Wikipedia; Note=Antithrombin entry; URL="http://en.wikipedia.org/wiki/Antithrombin";
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