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MGP000228

Record overview

MGPD IDMGP000228
Gene ID462
SpeciesHomo sapiens (Human)
Gene Nameserpin peptidase inhibitor, clade C (antithrombin), member 1
Gene Symbol SERPINC1
SynonymsAT3; AT3D; ATIII; THPH7;
Alternate namesantithrombin-III; serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1;
Chromosome1
Map Location1q25.1
SummaryThe 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]
OrthologsView orthologs and multiple alignments for SERPINC1

Proteins

antithrombin-III precursor
Refseq ID:NP_000479
Protein GI:4502261
UniProt ID:P01008
mRNA ID:NM_000488
Length:464
RefSeq Status:
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLAD
SKNDNDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGA
KLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQ
VLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAF
HKAFLEVNEEGSEAAASTAVVIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK
 
sig_peptide: 1..32
calculated_mol_wt: 3581
peptide sequence: 
MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTC

mat_peptide: 33..464
product: antithrombin-III
calculated_mol_wt: 49039
peptide sequence: 
HGSPVDICTAKPRDIPMNPMCIYRSPEKKATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFAMTKLGACNDTLQ
QLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFGDKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITD
VIPSEAINELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQVLELPFKGDDITMVLILPKPEKSLAKVEKELT
PEVLQEWLDELEEMMLVVHMPRFRIEDGFSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAVVIAGRSLNPNRV
TFKANRPFLVFIREVPLNTIIFMGRVANPCVK
 
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