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Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000488 Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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RefSeq Version NM_000488.3, 254588059
Length 1599 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.
Product antithrombin-III precursor
Comment

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].

RefSeq NP_000479.1
CDS 120..1514
Misc Feature(1)order(237..239,597..599)
Misc Feature(2)order(276..278,498..500)
Misc Feature(3)354..1493
Misc Feature(4)501..503
Misc Feature(5)618..620
Misc Feature(6)678..680
Misc Feature(7)789..791
Misc Feature(8)order(954..956,1503..1505)
Misc Feature(9)order(1350..1394,1419..1436)
Misc Feature(10)1392..1397
Misc Feature(11)1392..1394
Exon (1)1..160
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Exon (2)161..527
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Exon (3)528..743
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Exon (4)744..881
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Exon (5)882..1272
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Exon (6)1273..1337
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Exon (7)1338..1599
Gene:SERPINC1
Gene Synonym:AT3; AT3D; ATIII; THPH7
Translation MYSNVIGTVTSGKRKVYLLSLLLIGFWDCVTCHGSPVDICTAKPRDIPMNPMCIYRSPEK KATEDEGSEQKIPEATNRRVWELSKANSRFATTFYQHLADSKNDNDNIFLSPLSISTAFA MTKLGACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKANKSSKLVSANRLFG DKSLTFNETYQDISELVYGAKLQPLDFKENAEQSRAAINKWVSNKTEGRITDVIPSEAIN ELTVLVLVNTIYFKGLWKSKFSPENTRKELFYKADGESCSASMMYQEGKFRYRRVAEGTQ VLELPFKGDDITMVLILPKPEKSLAKVEKELTPEVLQEWLDELEEMMLVVHMPRFRIEDG FSLKEQLQDMGLVDLFSPEKSKLPGIVAEGRDDLYVSDAFHKAFLEVNEEGSEAAASTAV VIAGRSLNPNRVTFKANRPFLVFIREVPLNTIIFMGRVANPCVK
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Position Chain Variation Link
complement(85)-dbSNP:
complement(85)-g, adbSNP:200460215
complement(125)-t, adbSNP:199469506
complement(148)-t, gdbSNP:61736655
complement(204)-dbSNP:
complement(204)-g, adbSNP:147918976
complement(206)-g, adbSNP:188274879
complement(208)-t, adbSNP:2227624
complement(218)-t, g, adbSNP:147676453
complement(231)-t, cdbSNP:145771113
complement(235)-t, adbSNP:121909558
complement(285)-t, cdbSNP:28929469
complement(330)-t, adbSNP:199469505
complement(337)-t, cdbSNP:121909551
complement(348..355)-aaccggcg, gggadbSNP:199469507
complement(354)-t, c, adbSNP:121909547
complement(355)-g, adbSNP:121909552
complement(384)-g, adbSNP:147266200
complement(421)-g, cdbSNP:199895690
complement(430)-t, adbSNP:200118419
complement(469)-g, adbSNP:139392083
complement(470)-t, cdbSNP:200810296
complement(498)-t, cdbSNP:121909573
complement(510)-t, cdbSNP:121909567
complement(545)-dbSNP:
complement(545)-t, gdbSNP:199525344
complement(558)-g, adbSNP:2227606
complement(561)-t, cdbSNP:121909569
complement(600)-t, cdbSNP:121909562
complement(601)-g, adbSNP:121909563
complement(609)-t, cdbSNP:199469504
complement(619)-c, adbSNP:121909570
complement(648)-g, adbSNP:143521873
complement(713)-g, adbSNP:183416252
complement(774)-dbSNP:
complement(774)-g, adbSNP:121909571
complement(786)-t, cdbSNP:121909572
complement(789)-t, cdbSNP:146733468
complement(797)-t, cdbSNP:2227627
complement(812)-g, adbSNP:140452859
complement(815)-g, adbSNP:141292014
complement(838)-t, cdbSNP:200861147
complement(868)-g, adbSNP:144084678
complement(927)-dbSNP:
complement(927)-g, adbSNP:139275128
complement(977)-g, cdbSNP:139463995
complement(1001)-g, adbSNP:184508490
complement(1002)-t, cdbSNP:201381904
complement(1029)-g, adbSNP:150507232
complement(1086..1087)-, agdbSNP:121909560
complement(1094)-g, cdbSNP:200857896
complement(1100)-g, adbSNP:5877
complement(1124)-t, cdbSNP:192187532
complement(1130)-g, adbSNP:5878
complement(1140..1143)-, gatgdbSNP:121909561
complement(1185..1202)-, cgcattgaggacggcttcdbSNP:199469509
complement(1242)-t, gdbSNP:149006854
complement(1260)-t, cdbSNP:121909565
complement(1291)-dbSNP:
complement(1291)-t, cdbSNP:201541724
complement(1326)-c, adbSNP:138743710
complement(1343)-dbSNP:
complement(1343)-g, adbSNP:201411353
complement(1359)-g, adbSNP:121909557
complement(1365)-t, g, cdbSNP:121909548
complement(1375)-t, cdbSNP:121909568
complement(1390)-g, adbSNP:121909566
1392+c, tdbSNP:121909554
complement(1393)-g, c, adbSNP:121909549
complement(1396)-t, cdbSNP:121909550
complement(1425)-g, adbSNP:121909546
complement(1435)-t, cdbSNP:121909555
complement(1469)-t, cdbSNP:5879
complement(1501)-t, cdbSNP:121909564
Gene SymbolSERPINC1
Gene SynonymAT3; AT3D; ATIII; THPH7
Chromosome1
Locus Map1q25.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000488 Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA. In-stock $509.00 $460.00 12
Title A novel mutation in the SerpinC1 gene presenting as unprovoked neonatal cerebral sinus venous thrombosis in a kindred .
Author Kumar,R., Moharir,M., Yau,I. and Williams,S.
Journal Pediatr Blood Cancer 60 (1), 133-136 (2013)
Title Polymorphisms in antithrombin and in tissue factor pathway inhibitor genes are associated with recurrent pregnancy loss .
Author Guerra-Shinohara,E.M., Bertinato,J.F., Tosin Bueno,C., Cordeiro da Silva,K., Burlacchini de Carvalho,M.H., Pulcineli Vieira Francisco,R., Zugaib,M., Cerda,A. and Morelli,V.M.
Journal Thromb. Haemost. 108 (4), 693-700 (2012)
Title Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort .
Author Caspers,M., Pavlova,A., Driesen,J., Harbrecht,U., Klamroth,R., Kadar,J., Fischer,R., Kemkes-Matthes,B. and Oldenburg,J.
Journal Thromb. Haemost. 108 (2), 247-257 (2012)
Title Molecular basis of inherited human antithrombin deficiency .
Author Blajchman,M.A., Austin,R.C., Fernandez-Rachubinski,F. and Sheffield,W.P.
Journal Blood 80 (9), 2159-2171 (1992)
Title Insertions/deletions in the antithrombin gene: 3 mutations associated with non-expression .
Author Daly,M., Perry,D.J., Harper,P.L., Daly,H.M., Roques,A.W. and Carrell,R.W.
Journal Thromb. Haemost. 67 (5), 521-525 (1992)
Title Natural anticoagulant pathways in normal and transplanted human hearts .
Author Labarrere,C.A., Pitts,D., Halbrook,H. and Faulk,W.P.
Journal J. Heart Lung Transplant. 11 (2 PT 1), 342-347 (1992)
Title Intron structure of the human antithrombin III gene differs from that of other members of the serine protease inhibitor superfamily .
Author Prochownik,E.V., Bock,S.C. and Orkin,S.H.
Journal J. Biol. Chem. 260 (17), 9608-9612 (1985)
Title Isolation of a cDNA clone for human antithrombin III .
Author Prochownik,E.V., Markham,A.F. and Orkin,S.H.
Journal J. Biol. Chem. 258 (13), 8389-8394 (1983)
Title Isolation and sequence characterization of a cDNA clone of human antithrombin III .
Author Chandra,T., Stackhouse,R., Kidd,V.J. and Woo,S.L.
Journal Proc. Natl. Acad. Sci. U.S.A. 80 (7), 1845-1848 (1983)
Title Cloning and expression of the cDNA for human antithrombin III .
Author Bock,S.C., Wion,K.L., Vehar,G.A. and Lawn,R.M.
Journal Nucleic Acids Res. 10 (24), 8113-8125 (1982)


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