Homo sapiens von Willebrand factor (VWF), mRNA.
| RefSeq Version | NM_000552.3, 89191867 |
| Length | 8833 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens von Willebrand factor (VWF), mRNA. |
| Product | von Willebrand factor preproprotein |
| Comment | Summary: The glycoprotein encoded by this gene functions as both an antihemophilic factor carrier and a platelet-vessel wall mediator in the blood coagulation system. It is crucial to the hemostasis process. Mutations in this gene or deficiencies in this protein result in von Willebrand's disease. An unprocessed pseudogene has been found on chromosome 22. [provided by RefSeq]. |
| RefSeq | NP_000543.2 |
| CDS | 251..8692 | Exon (1) | 1..250 | Exon (2) | 1..250 | Exon (3) | 251..305 | Exon (4) | 306..470 | Exon (5) | 471..573 | Exon (6) | 574..782 | Exon (7) | 783..907 | Exon (8) | 908..1124 | Exon (9) | 1125..1247 | Exon (10) | 1248..1359 | Exon (11) | 1360..1406 | Exon (12) | 1407..1543 | Exon (13) | 1544..1682 | Exon (14) | 1683..1783 | Exon (15) | 1784..1979 | Exon (16) | 1980..2195 | Exon (17) | 2196..2436 | Exon (18) | 2437..2531 | Exon (19) | 2532..2692 | Exon (20) | 2693..2796 | Exon (21) | 2797..2935 | Exon (22) | 2936..3070 | Exon (23) | 3071..3217 | Exon (24) | 3218..3358 | Exon (25) | 3359..3472 | Exon (26) | 3473..3629 | Exon (27) | 3630..3788 | Exon (28) | 3789..3924 | Exon (29) | 3925..5303 | Exon (30) | 5304..5420 | Exon (31) | 5421..5561 | Exon (32) | 5562..5705 | Exon (33) | 5706..5870 | Exon (34) | 5871..5914 | Exon (35) | 5915..6092 | Exon (36) | 6093..6313 | Exon (37) | 6314..6506 | Exon (38) | 6507..6848 | Exon (39) | 6849..7048 | Exon (40) | 7049..7151 | Exon (41) | 7152..7226 | Exon (42) | 7227..7331 | Exon (43) | 7332..7537 | Exon (44) | 7538..7687 | Exon (45) | 7688..7798 | Exon (46) | 7799..7979 | Exon (47) | 7980..8020 | Exon (48) | 8021..8137 | Exon (49) | 8138..8236 | Exon (50) | 8237..8365 | Exon (51) | 8366..8405 | Exon (52) | 8406..8503 | Exon (53) | 8504..8833 |
| Translation | MIPARFAGVLLALALILPGTLCAEGTRGRSSTARCSLFGSDFVNTFDGSMYSFAGYCSYL
LAGGCQKRSFSIIGDFQNGKRVSLSVYLGEFFDIHLFVNGTVTQGDQRVSMPYASKGLYL
ETEAGYYKLSGEAYGFVARIDGSGNFQVLLSDRYFNKTCGLCGNFNIFAEDDFMTQEGTL
TSDPYDFANSWALSSGEQWCERASPPSSSCNISSGEMQKGLWEQCQLLKSTSVFARCHPL
VDPEPFVALCEKTLCECAGGLECACPALLEYARTCAQEGMVLYGWTDHSACSPVCPAGME
YRQCVSPCARTCQSLHINEMCQERCVDGCSCPEGQLLDEGLCVESTECPCVHSGKRYPPG
TSLSRDCNTCICRNSQWICSNEECPGECLVTGQSHFKSFDNRYFTFSGICQYLLARDCQD
HSFSIVIETVQCADDRDAVCTRSVTVRLPGLHNSLVKLKHGAGVAMDGQDVQLPLLKGDL
RIQHTVTASVRLSYGEDLQMDWDGRGRLLVKLSPVYAGKTCGLCGNYNGNQGDDFLTPSG
LAEPRVEDFGNAWKLHGDCQDLQKQHSDPCALNPRMTRFSEEACAVLTSPTFEACHRAVS
PLPYLRNCRYDVCSCSDGRECLCGALASYAAACAGRGVRVAWREPGRCELNCPKGQVYLQ
CGTPCNLTCRSLSYPDEECNEACLEGCFCPPGLYMDERGDCVPKAQCPCYYDGEIFQPED
IFSDHHTMCYCEDGFMHCTMSGVPGSLLPDAVLSSPLSHRSKRSLSCRPPMVKLVCPADN
LRAEGLECTKTCQNYDLECMSMGCVSGCLCPPGMVRHENRCVALERCPCFHQGKEYAPGE
TVKIGCNTCVCRDRKWNCTDHVCDATCSTIGMAHYLTFDGLKYLFPGECQYVLVQDYCGS
NPGTFRILVGNKGCSHPSVKCKKRVTILVEGGEIELFDGEVNVKRPMKDETHFEVVESGR
YIILLLGKALSVVWDRHLSISVVLKQTYQEKVCGLCGNFDGIQNNDLTSSNLQVEEDPVD
FGNSWKVSSQCADTRKVPLDSSPATCHNNIMKQTMVDSSCRILTSDVFQDCNKLVDPEPY
LDVCIYDTCSCESIGDCACFCDTIAAYAHVCAQHGKVVTWRTATLCPQSCEERNLRENGY
ECEWRYNSCAPACQVTCQHPEPLACPVQCVEGCHAHCPPGKILDELLQTCVDPEDCPVCE
VAGRRFASGKKVTLNPSDPEHCQICHCDVVNLTCEACQEPGGLVVPPTDAPVSPTTLYVE
DISEPPLHDFYCSRLLDLVFLLDGSSRLSEAEFEVLKAFVVDMMERLRISQKWVRVAVVE
YHDGSHAYIGLKDRKRPSELRRIASQVKYAGSQVASTSEVLKYTLFQIFSKIDRPEASRI
TLLLMASQEPQRMSRNFVRYVQGLKKKKVIVIPVGIGPHANLKQIRLIEKQAPENKAFVL
SSVDELEQQRDEIVSYLCDLAPEAPPPTLPPDMAQVTVGPGLLGVSTLGPKRNSMVLDVA
FVLEGSDKIGEADFNRSKEFMEEVIQRMDVGQDSIHVTVLQYSYMVTVEYPFSEAQSKGD
ILQRVREIRYQGGNRTNTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIKRLP
GDIQVVPIGVGPNANVQELERIGWPNAPILIQDFETLPREAPDLVLQRCCSGEGLQIPTL
SPAPDCSQPLDVILLLDGSSSFPASYFDEMKSFAKAFISKANIGPRLTQVSVLQYGSITT
IDVPWNVVPEKAHLLSLVDVMQREGGPSQIGDALGFAVRYLTSEMHGARPGASKAVVILV
TDVSVDSVDAAADAARSNRVTVFPIGIGDRYDAAQLRILAGPAGDSNVVKLQRIEDLPTM
VTLGNSFLHKLCSGFVRICMDEDGNEKRPGDVWTLPDQCHTVTCQPDGQTLLKSHRVNCD
RGLRPSCPNSQSPVKVEETCGCRWTCPCVCTGSSTRHIVTFDGQNFKLTGSCSYVLFQNK
EQDLEVILHNGACSPGARQGCMKSIEVKHSALSVELHSDMEVTVNGRLVSVPYVGGNMEV
NVYGAIMHEVRFNHLGHIFTFTPQNNEFQLQLSPKTFASKTYGLCGICDENGANDFMLRD
GTVTTDWKTLVQEWTVQRPGQTCQPILEEQCLVPDSSHCQVLLLPLFAECHKVLAPATFY
AICQQDSCHQEQVCEVIASYAHLCRTNGVCVDWRTPDFCAMSCPPSLVYNHCEHGCPRHC
DGNVSSCGDHPSEGCFCPPDKVMLEGSCVPEEACTQCIGEDGVQHQFLEAWVPDHQPCQI
CTCLSGRKVNCTTQPCPTAKAPTCGLCEVARLRQNADQCCPEYECVCDPVSCDLPPVPHC
ERGLQPTLTNPGECRPNFTCACRKEECKRVSPPSCPPHRLPTLRKTQCCDEYECACNCVN
STVSCPLGYLASTATNDCGCTTTTCLPDKVCVHRSTIYPVGQFWEEGCDVCTCTDMEDAV
MGLRVAQCSQKPCEDSCRSGFTYVLHEGECCGRCLPSACEVVTGSPRGDSQSSWKSVGSQ
WASPENPCLINECVRVKEEVFIQQRNVSCPQLEVPVCPSGFQLSCKTSACCPSCRCERME
ACMLNGTVIGPGKTVMIDVCTTCRCMVQVGVISGFKLECRKTTCNPCPLGYKEENNTGEC
CGRCLPTACTIQLRGGQIMTLKRDETLQDGCDTHFCKVNERGEYFWEKRVTGCPPFDEHK
CLAEGGKIMKIPGTCCDTCEEPECNDITARLQYVKVGSCKSEVEVDIHYCQGKCASKAMY
SIDINDVQDQCSCCSPTRTEPMQVALHCTNGSVVYHEVLNAMECKCSPRKCSK
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| Title | N-acetylcysteine reduces the size and activity of von Willebrand factor in human plasma and mice . |
| Author | Chen,J., Reheman,A., Gushiken,F.C., Nolasco,L., Fu,X., Moake,J.L., Ni,H. and Lopez,J.A. |
| Journal | J. Clin. Invest. 121 (2), 593-603 (2011) |
| Title | Endothelial von Willebrand factor regulates angiogenesis . |
| Author | Starke,R.D., Ferraro,F., Paschalaki,K.E., Dryden,N.H., McKinnon,T.A., Sutton,R.E., Payne,E.M., Haskard,D.O., Hughes,A.D., Cutler,D.F., Laffan,M.A. and Randi,A.M. |
| Journal | Blood 117 (3), 1071-1080 (2011) |
| Title | Key role of glycoprotein Ib/V/IX and von Willebrand factor in platelet activation-dependent fibrin formation at low shear flow . |
| Author | Cosemans,J.M., Schols,S.E., Stefanini,L., de Witt,S., Feijge,M.A., Hamulyak,K., Deckmyn,H., Bergmeier,W. and Heemskerk,J.W. |
| Journal | Blood 117 (2), 651-660 (2011) |
| Title | A new method measuring the interaction between von Willebrand factor and coagulation factor VIII . |
| Author | Karlman,M., Holmstrom,M. and Wiman,B. |
| Journal | Thromb. Res. 127 (1), 47-50 (2011) |
| Title | An integrative method for scoring candidate genes from association studies: application to warfarin dosing . |
| Author | Tatonetti,N.P., Dudley,J.T., Sagreiya,H., Butte,A.J. and Altman,R.B. |
| Journal | BMC Bioinformatics 11 SUPPL 9, S9 (2010) |
| Title | Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease . |
| Author | Ribba,A.S., Voorberg,J., Meyer,D., Pannekoek,H. and Pietu,G. |
| Journal | J. Biol. Chem. 267 (32), 23209-23215 (1992) |
| Title | von Willebrand disease type B: a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib . |
| Author | Rabinowitz,I., Tuley,E.A., Mancuso,D.J., Randi,A.M., Firkin,B.G., Howard,M.A. and Sadler,J.E. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (20), 9846-9849 (1992) |
| Title | Defects in type IIA von Willebrand disease: a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX . |
| Author | Lavergne,J.M., De Paillette,L., Bahnak,B.R., Ribba,A.S., Fressinaud,E., Meyer,D. and Pietu,G. |
| Journal | Br. J. Haematol. 82 (1), 66-72 (1992) |
| Title | Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden . |
| Author | Donner,M., Kristoffersson,A.C., Lenk,H., Scheibel,E., Dahlback,B., Nilsson,I.M. and Holmberg,L. |
| Journal | Br. J. Haematol. 82 (1), 58-65 (1992) |
| Title | Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB . |
| Author | Pietu,G., Ribba,A.S., de Paillette,L., Cherel,G., Lavergne,J.M., Bahnak,B.R. and Meyer,D. |
| Journal | Blood Coagul. Fibrinolysis 3 (4), 415-421 (1992) |
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