Sequence in raw or FASTA format:
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 [Homo sapiens (human)]
|Entrez Gene ID||462|
|Full Name||serpin peptidase inhibitor, clade C (antithrombin), member 1|
|Synonyms||AT3, AT3D, ATIII, THPH7|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||The protein encoded by this gene is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. More than 120 mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency. [provided by RefSeq, Jul 2009].|
Antithrombin III deficiency, 613118 (3)
|hsa04610||Complement and coagulation cascades|
|glypican_1pathway||Glypican 1 network|
|REACT_2051||Formation of Fibrin Clot (Clotting Cascade)|
|Homo sapiens (human)||SERPINC1||NP_000479.1|
|Pan troglodytes (chimpanzee)||SERPINC1||XP_001151521.1|
|Macaca mulatta (Rhesus monkey)||SERPINC1||NP_001098053.1|
|Canis lupus familiaris (dog)||SERPINC1||XP_537187.4|
|Bos taurus (cattle)||SERPINC1||NP_001029870.1|
|Mus musculus (house mouse)||Serpinc1||NP_543120.1|
|Rattus norvegicus (Norway rat)||Serpinc1||NP_001012027.1|
|Gallus gallus (chicken)||SERPINC1||XP_422282.3|
|Danio rerio (zebrafish)||serpinc1||NP_878283.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||serpinc1||NP_001008153.1|
|GO:0007584||response to nutrient||IEA|
|GO:0010951||negative regulation of endopeptidase activity||IBA|
|GO:0030162||regulation of proteolysis||IBA|
|GO:0050728||negative regulation of inflammatory response||IEA|
|GO:2000266||regulation of blood coagulation, intrinsic pathway||IEA|
|GO:0070062||extracellular vesicular exosome||IDA|
|GO:0004867||serine-type endopeptidase inhibitor activity||IBA|
|GO:0004867||serine-type endopeptidase inhibitor activity||NAS|
|PDB||1SR5, 2HIJ, 1AZX, 1BR8, 2GD4, 2BEH, 3EVJ, 1JVQ, 2B5T, 1ANT, 1E04, 1ATH, 1DZH, 2ZNH, 1TB6, 1E03, 2ANT, 1OYH, 1R1L, 4EB1, 3KCG, 2B4X, 1E05, 1T1F, 1LK6, 1DZG, 1NQ9|
What is the normal function of the SERPINC1 gene?
The SERPINC1 gene provides instructions for making a protein called antithrombin (previously known as antithrombin III), which is a type of serine protease inhibitor (serpin). Serpins help control several types of chemical reactions by blocking the activity of certain proteins. Antithrombin is found in the bloodstream and is important for controlling blood clotting.
Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin. Antithrombin attaches (binds) to thrombin and certain other clotting proteins, which are then cleared from the bloodstream by the liver.
While one part of antithrombin binds to thrombin and other clotting proteins, another part of the protein binds to a substance called heparin. Antithrombin changes its shape when it binds to heparin. This change in shape allows antithrombin to inactivate clotting proteins at a much faster rate.
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