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UniProt functional annotation for P01008 | ||
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| UniProt code: P01008. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| 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. {ECO:0000269|PubMed:15853774}. |
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| Subunit: | |
Forms protease inhibiting heterodimer with TMPRSS7. |
| Subcellular location: | |
Secreted, extracellular space. |
| Tissue specificity: | |
Found in plasma. |
| Ptm: | |
Phosphorylated by FAM20C in the extracellular medium. {ECO:0000269|PubMed:26091039}. |
| Mass spectrometry: | |
Mass=57863; Method=Electrospray; Evidence={ECO:0000269|PubMed:7734359}; |
| Mass spectrometry: | |
Mass=57911; Method=Electrospray; Note=Variant Thr- 414.; Evidence={ECO:0000269|PubMed:7734359}; |
| Disease: | |
Antithrombin 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:2013320, 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.55}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the serpin family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.