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Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.


RefSeq Accession Definition Services Price Order
NM_000312 Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. ORF Sequence $401.94
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RefSeq Version NM_000312.3, 270483720
Length 1790 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.
Product vitamin K-dependent protein C preproprotein
Comment

Summary: This gene encodes a vitamin K-dependent plasma glycoprotein. The encoded protein is cleaved to its activated form by the thrombin-thrombomodulin complex. This activated form contains a serine protease domain and functions in degradation of the activated forms of coagulation factors V and VIII. Mutations in this gene have been associated with thrombophilia due to protein C deficiency, neonatal purpura fulminans, and recurrent venous thrombosis.[provided by RefSeq, Dec 2009].

RefSeq NP_000303.1
CDS 95..1480
Misc Feature(1)164..355
Misc Feature(2)218..220
Misc Feature(3)236..238
Misc Feature(4)236..238
Misc Feature(5)239..241
Misc Feature(6)239..241
Misc Feature(7)260..262
Misc Feature(8)260..262
Misc Feature(9)266..268
Misc Feature(10)266..268
Misc Feature(11)275..277
Misc Feature(12)275..277
Misc Feature(13)278..280
Misc Feature(14)278..280
Misc Feature(15)293..295
Misc Feature(16)293..295
Misc Feature(17)296..298
Misc Feature(18)296..298
Misc Feature(19)305..307
Misc Feature(20)305..307
Misc Feature(21)392..490
Misc Feature(22)order(392..394,431..433)
Misc Feature(23)431..433
Misc Feature(24)431..433
Misc Feature(25)509..511
Misc Feature(26)683..685
Misc Feature(27)689..691
Misc Feature(28)725..730
Misc Feature(29)731..1438
Misc Feature(30)order(851..853,989..991,1298..1300)
Misc Feature(31)962..964
Misc Feature(32)1157..1159
Misc Feature(33)1205..1207
Misc Feature(34)order(1280..1282,1355..1357,1361..1363)
Exon (1)1..73
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (2)74..164
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (3)165..331
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (4)332..356
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (5)357..494
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (6)495..629
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (7)630..772
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (8)773..890
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Exon (9)891..1780
Gene:PROC
Gene Synonym:APC; PC; PROC1; THPH3; THPH4
Translation MWQLTSLLLFVATWGISGTPAPLDSVFSSSERAHQVLRIRKRANSFLEELRHSSLERECI EEICDFEEAKEIFQNVDDTLAFWSKHVDGDQCLVLPLEHPCASLCCGHGTCIDGIGSFSC DCRSGWEGRFCQREVSFLNCSLDNGGCTHYCLEEVGWRRCSCAPGYKLGDDLLQCHPAVK FPCGRPWKRMEKKRSHLKRDTEDQEDQVDPRLIDGKMTRRGDSPWQVVLLDSKKKLACGA VLIHPSWVLTAAHCMDESKKLLVRLGEYDLRRWEKWELDLDIKEVFVHPNYSKSTTDNDI ALLHLAQPATLSQTIVPICLPDSGLAERELNQAGQETLVTGWGYHSSREKEAKRNRTFVL NFIKIPVVPHNECSEVMSNMVSENMLCAGILGDRQDACEGDSGGPMVASFHGTWFLVGLV SWGEGCGLLHNYGVYTKVSRYLDWIHGHIRDKEAPQKSWAP
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Position Chain Variation Link
41+dbSNP:
41+a, gdbSNP:2069936
43+c, tdbSNP:148484185
45+a, tdbSNP:1799810
62+c, tdbSNP:116169054
124+c, tdbSNP:148490199
146+a, gdbSNP:146793243
160+c, tdbSNP:144300387
212+dbSNP:
212+c, tdbSNP:199514227
232+c, gdbSNP:141040323
279+a, cdbSNP:121918148
292+c, gdbSNP:201463891
302+a, gdbSNP:199469481
320+a, gdbSNP:121918149
353+dbSNP:
353+a, gdbSNP:145854591
410+dbSNP:
410+g, tdbSNP:199469479
416+a, cdbSNP:200234655
437+a, gdbSNP:201563330
443..446+, agctdbSNP:199469477
493+c, tdbSNP:200045749
517+dbSNP:
517+g, tdbSNP:5936
540+a, cdbSNP:121918159
556+a, gdbSNP:201952795
562+c, gdbSNP:201105510
618+a, gdbSNP:199469474
635+dbSNP:
635+g, tdbSNP:199469470
659+c, tdbSNP:146922325
668..670+, aagdbSNP:199469469
723+c, tdbSNP:121918145
724+a, gdbSNP:2069927
725+c, tdbSNP:121918143
726+a, gdbSNP:199469476
752+c, tdbSNP:121918152
753+a, gdbSNP:121918153
763+a, cdbSNP:199469483
772+c, gdbSNP:121918155
804+dbSNP:
804+c, tdbSNP:145868088
808+c, tdbSNP:141249033
810..811+, gdbSNP:199469475
812..813+, gdbSNP:200187516
862+c, tdbSNP:5937
887+c, tdbSNP:121918156
908+dbSNP:
908+c, tdbSNP:121918154
928+a, gdbSNP:146289521
960+c, tdbSNP:121918151
969+a, gdbSNP:202150408
972+a, gdbSNP:144233408
975+a, gdbSNP:200721675
983+c, gdbSNP:199469471
985+c, tdbSNP:5935
994+c, tdbSNP:112356403
996+c, tdbSNP:121918144
1008+, tdbSNP:34222720
1018+c, tdbSNP:13388546
1019+a, gdbSNP:121918146
1021+c, tdbSNP:200731614
1029+c, tdbSNP:121918160
1030+a, gdbSNP:199679356
1074+a, tdbSNP:199469480
1076+c, tdbSNP:201907715
1094+a, gdbSNP:121918150
1109+a, gdbSNP:121918158
1121+a, gdbSNP:121918147
1136+c, tdbSNP:121918141
1137+a, gdbSNP:201827066
1193+a, gdbSNP:140582220
1201+a, gdbSNP:61731660
1205+a, gdbSNP:145800354
1216+c, tdbSNP:187228759
1255+c, tdbSNP:148855579
1273+c, tdbSNP:148035465
1288+c, tdbSNP:146028808
1290+a, cdbSNP:201399407
1295+a, gdbSNP:142742242
1328+a, gdbSNP:139741458
1343+c, gdbSNP:144760718
1352+g, tdbSNP:199469472
1393+c, tdbSNP:151319700
1426+c, gdbSNP:121918142
1427+a, cdbSNP:200012319
1429+c, gdbSNP:121918157
1481+c, tdbSNP:199900627
1553+c, tdbSNP:199469473
1597+c, gdbSNP:1042759
1626+c, tdbSNP:140461934
1634+a, tdbSNP:76963348
1656+c, tdbSNP:150393087
Gene SymbolPROC
Gene SynonymAPC; PC; PROC1; THPH3; THPH4
Chromosome2
Locus Map2q13-q14
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000312 Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA. Full Length $519.10
ORF Sequence $401.94
Title Novel association of a PROC variant with ischemic stroke in a Chinese Han population .
Author Lu,X., Tang,L., Xu,K., Ma,J., Guo,T., Mei,H., Yang,R., Yu,J., Wang,Q., Yang,Y., Jian,X. and Hu,Y.
Journal Hum. Genet. 132 (1), 69-77 (2013)
Title Protein C polymorphism and susceptibility to PTE in China .
Author Zhang,Y.J., Miao,Y.F., Cheng,K.B., Yue,J., Tan,X.Y. and Liu,J.M.
Journal Blood Coagul. Fibrinolysis 23 (8), 693-699 (2012)
Title A novel homozygous missense mutation (Val 325-->Ala) in the protein .
Author Witt,I., Beck,S., Seydewitz,H.H., Tasangil,C. and Schenck,W.
Journal Blood Coagul. Fibrinolysis 5 (4), 651-653 (1994)
Title A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis .
Author Grundy,C.B., Chisholm,M., Kakkar,V.V. and Cooper,D.N.
Journal Hum. Genet. 89 (6), 683-684 (1992)
Title Sublocalization of the human protein C gene on chromosome 2q13-q14 .
Author Patracchini,P., Aiello,V., Palazzi,P., Calzolari,E. and Bernardi,F.
Journal Hum. Genet. 81 (2), 191-192 (1989)
Title Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene .
Author Romeo,G., Hassan,H.J., Staempfli,S., Roncuzzi,L., Cianetti,L., Leonardi,A., Vicente,V., Mannucci,P.M., Bertina,R., Peschle,C. et al.
Journal Proc. Natl. Acad. Sci. U.S.A. 84 (9), 2829-2832 (1987)
Title The structure and evolution of a 461 amino acid human protein C precursor and its messenger RNA, based upon the DNA sequence of cloned human liver cDNAs .
Author Beckmann,R.J., Schmidt,R.J., Santerre,R.F., Plutzky,J., Crabtree,G.R. and Long,G.L.
Journal Nucleic Acids Res. 13 (14), 5233-5247 (1985)
Title The nucleotide sequence of the gene for human protein C .
Author Foster,D.C., Yoshitake,S. and Davie,E.W.
Journal Proc. Natl. Acad. Sci. U.S.A. 82 (14), 4673-4677 (1985)
Title Human plasma protein C: isolation, characterization, and mechanism of activation by alpha-thrombin .
Author Kisiel,W.
Journal J. Clin. Invest. 64 (3), 761-769 (1979)
Title A new vitamin K-dependent protein. A phospholipid-binding zymogen of a serine esterase .
Author Esmon,C.T., Stenflo,J. and Suttie,J.W.
Journal J. Biol. Chem. 251 (10), 3052-3056 (1976)

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