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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 04-MAY-2014
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(32)-dbSNP:
complement(32)-t, cdbSNP:376206880
complement(48)-t, adbSNP:373264710
complement(63)-t, cdbSNP:372524963
complement(85)-g, adbSNP:200460215
complement(116)-t, cdbSNP:370576783
125+a, tdbSNP:199469506
complement(148)-t, gdbSNP:61736655
complement(178)-dbSNP:
complement(178)-g, adbSNP:369828221
187+c, tdbSNP:387906575
complement(206)-g, adbSNP:188274879
208+a, tdbSNP:2227624
complement(218)-t, g, adbSNP:147676453
complement(231)-t, cdbSNP:145771113
235+a, tdbSNP:121909558
285+c, tdbSNP:28929469
complement(325)-t, adbSNP:377500819
330+a, tdbSNP:199469505
348..355+aaccggcg, gggadbSNP:199469507
complement(351)-g, adbSNP:374205395
354+a, c, tdbSNP:121909547
complement(384)-g, adbSNP:147266200
complement(418)-t, cdbSNP:369524182
complement(421)-g, cdbSNP:199895690
complement(430)-t, adbSNP:200118419
complement(461)-g, adbSNP:369954987
complement(464)-g, adbSNP:374763537
complement(469)-g, adbSNP:139392083
complement(470)-t, cdbSNP:200810296
complement(482)-t, cdbSNP:371222224
498+c, tdbSNP:121909573
510+c, tdbSNP:121909567
complement(545)-dbSNP:
complement(545)-t, gdbSNP:199525344
complement(558)-t, cdbSNP:386561629
complement(558)-g, adbSNP:2227606
561+c, tdbSNP:121909569
600+c, tdbSNP:121909562
601+a, gdbSNP:121909563
609+c, tdbSNP:199469504
619+a, cdbSNP:121909570
complement(648)-g, adbSNP:143521873
complement(692)-t, cdbSNP:267598177
complement(713)-g, adbSNP:183416252
complement(744)-dbSNP:
complement(744)-t, cdbSNP:267598176
774+a, gdbSNP:121909571
786+c, tdbSNP:121909572
complement(789)-t, cdbSNP:146733468
797+c, tdbSNP:2227627
complement(812)-g, adbSNP:140452859
complement(826)-g, adbSNP:368419985
complement(838)-t, cdbSNP:200861147
complement(868)-g, adbSNP:144084678
complement(927)-dbSNP:
complement(927)-g, adbSNP:139275128
complement(977)-g, cdbSNP:139463995
complement(989)-g, adbSNP:370190321
complement(991)-t, cdbSNP:377588972
complement(1001)-g, adbSNP:184508490
complement(1002)-t, cdbSNP:201381904
complement(1005)-g, cdbSNP:372820797
complement(1029)-g, adbSNP:150507232
1086..1087+, agdbSNP:121909560
complement(1094)-g, cdbSNP:200857896
1100+a, gdbSNP:5877
complement(1124)-t, cdbSNP:192187532
1130+a, gdbSNP:5878
complement(1130)-g, adbSNP:386600221
1140..1143+, gatgdbSNP:121909561
1185..1202+, cgcattgaggacggcttcdbSNP:199469509
complement(1185)-g, adbSNP:376752370
complement(1186)-t, cdbSNP:373515340
complement(1242)-t, gdbSNP:149006854
1260+c, tdbSNP:121909565
complement(1291)-dbSNP:
complement(1291)-t, cdbSNP:201541724
complement(1313)-t, adbSNP:372611817
complement(1337)-t, cdbSNP:368902256
complement(1343)-dbSNP:
complement(1343)-g, adbSNP:201411353
1359+a, gdbSNP:121909557
1365+c, g, tdbSNP:121909548
1375+c, tdbSNP:121909568
complement(1377)-g, cdbSNP:372319633
1390+a, gdbSNP:121909566
1392+c, tdbSNP:121909554
1393+a, c, gdbSNP:121909549
1396+c, tdbSNP:121909550
1425+a, gdbSNP:121909546
1435+c, tdbSNP:121909555
complement(1459)-t, adbSNP:368586812
complement(1461)-g, adbSNP:376029223
1469+c, tdbSNP:5879
1501+c, tdbSNP:121909564
complement(1502)-g, adbSNP:374122877
complement(1543)-t, cdbSNP:370533988
complement(1548)-g, adbSNP:377120264
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
XM_005245198 PREDICTED: Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), transcript variant X1, mRNA. On-demand $699.00 18
Title The allosteric mechanism of activation of antithrombin as an inhibitor of factor IXa and factor Xa: heparin-independent full activation through mutations adjacent to helix D .
Author Dementiev A, Swanson R, Roth R, Isetti G, Izaguirre G, Olson ST and Gettins PG.
Journal J. Biol. Chem. 288 (47), 33611-33619 (2013)
Title Thrombin-anti-thrombin levels and patency of arterio-venous fistula in patients undergoing haemodialysis compared to healthy volunteers: a prospective analysis .
Author Milburn JA, Ford I, Mutch NJ, Fluck N and Brittenden J.
Journal PLoS ONE 8 (7), E67799 (2013)
Title Update of the human and mouse SERPIN gene superfamily .
Author Heit C, Jackson BC, McAndrews M, Wright MW, Thompson DC, Silverman GA, Nebert DW and Vasiliou V.
Journal Hum. Genomics 7, 22 (2013)
Title Molecular basis of inherited human antithrombin deficiency .
Author Blajchman MA, Austin RC, Fernandez-Rachubinski F and Sheffield WP.
Journal Blood 80 (9), 2159-2171 (1992)
Title Insertions/deletions in the antithrombin gene: 3 mutations associated with non-expression .
Author Daly M, Perry DJ, Harper PL, Daly HM, Roques AW and Carrell RW.
Journal Thromb. Haemost. 67 (5), 521-525 (1992)
Title Natural anticoagulant pathways in normal and transplanted human hearts .
Author Labarrere CA, Pitts D, Halbrook H and Faulk WP.
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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