KEGG   Homo sapiens (human): 7450Help
Entry
7450              CDS       T01001                                 

Gene name
VWF, F8VWF, VWD
Definition
(RefSeq) von Willebrand factor
  KO
K03900  von Willebrand factor
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04610  Complement and coagulation cascades
hsa04611  Platelet activation
hsa05165  Human papillomavirus infection
Disease
H00219  Hemophilia
H01740  Macrothrombocytopenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04151 PI3K-Akt signaling pathway
    7450 (VWF)
  Signaling molecules and interaction
   04512 ECM-receptor interaction
    7450 (VWF)
 Cellular Processes
  Cellular community - eukaryotes
   04510 Focal adhesion
    7450 (VWF)
 Organismal Systems
  Immune system
   04610 Complement and coagulation cascades
    7450 (VWF)
   04611 Platelet activation
    7450 (VWF)
 Human Diseases
  Infectious diseases
   05165 Human papillomavirus infection
    7450 (VWF)
Chaperones and folding catalysts [BR:hsa03110]
 Intramolecular chaperones
  Others
   7450 (VWF)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   7450 (VWF)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: VWD VWA C8 VWA_N2 TIL VWA_2 VWC Pacifastin_I MCR_beta_N
Motif
Other DBs
NCBI-GeneID: 7450
NCBI-ProteinID: NP_000543
OMIM: 613160
HGNC: 12726
Ensembl: ENSG00000110799
Vega: OTTHUMG00000168265
Pharos: P04275(Tbio)
UniProt: P04275
Structure
PDB: 

Position
12p13.31
AA seq 2813 aa AA seqDB search
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
NT seq 8442 nt NT seq  +upstreamnt  +downstreamnt
atgattcctgccagatttgccggggtgctgcttgctctggccctcattttgccagggacc
ctttgtgcagaaggaactcgcggcaggtcatccacggcccgatgcagccttttcggaagt
gacttcgtcaacacctttgatgggagcatgtacagctttgcgggatactgcagttacctc
ctggcagggggctgccagaaacgctccttctcgattattggggacttccagaatggcaag
agagtgagcctctccgtgtatcttggggaattttttgacatccatttgtttgtcaatggt
accgtgacacagggggaccaaagagtctccatgccctatgcctccaaagggctgtatcta
gaaactgaggctgggtactacaagctgtccggtgaggcctatggctttgtggccaggatc
gatggcagcggcaactttcaagtcctgctgtcagacagatacttcaacaagacctgcggg
ctgtgtggcaactttaacatctttgctgaagatgactttatgacccaagaagggaccttg
acctcggacccttatgactttgccaactcatgggctctgagcagtggagaacagtggtgt
gaacgggcatctcctcccagcagctcatgcaacatctcctctggggaaatgcagaagggc
ctgtgggagcagtgccagcttctgaagagcacctcggtgtttgcccgctgccaccctctg
gtggaccccgagccttttgtggccctgtgtgagaagactttgtgtgagtgtgctgggggg
ctggagtgcgcctgccctgccctcctggagtacgcccggacctgtgcccaggagggaatg
gtgctgtacggctggaccgaccacagcgcgtgcagcccagtgtgccctgctggtatggag
tataggcagtgtgtgtccccttgcgccaggacctgccagagcctgcacatcaatgaaatg
tgtcaggagcgatgcgtggatggctgcagctgccctgagggacagctcctggatgaaggc
ctctgcgtggagagcaccgagtgtccctgcgtgcattccggaaagcgctaccctcccggc
acctccctctctcgagactgcaacacctgcatttgccgaaacagccagtggatctgcagc
aatgaagaatgtccaggggagtgccttgtcacaggtcaatcacacttcaagagctttgac
aacagatacttcaccttcagtgggatctgccagtacctgctggcccgggattgccaggac
cactccttctccattgtcattgagactgtccagtgtgctgatgaccgcgacgctgtgtgc
acccgctccgtcaccgtccggctgcctggcctgcacaacagccttgtgaaactgaagcat
ggggcaggagttgccatggatggccaggacgtccagctccccctcctgaaaggtgacctc
cgcatccagcatacagtgacggcctccgtgcgcctcagctacggggaggacctgcagatg
gactgggatggccgcgggaggctgctggtgaagctgtcccccgtctatgccgggaagacc
tgcggcctgtgtgggaattacaatggcaaccagggcgacgacttccttaccccctctggg
ctggcggagccccgggtggaggacttcgggaacgcctggaagctgcacggggactgccag
gacctgcagaagcagcacagcgatccctgcgccctcaacccgcgcatgaccaggttctcc
gaggaggcgtgcgcggtcctgacgtcccccacattcgaggcctgccatcgtgccgtcagc
ccgctgccctacctgcggaactgccgctacgacgtgtgctcctgctcggacggccgcgag
tgcctgtgcggcgccctggccagctatgccgcggcctgcgcggggagaggcgtgcgcgtc
gcgtggcgcgagccaggccgctgtgagctgaactgcccgaaaggccaggtgtacctgcag
tgcgggaccccctgcaacctgacctgccgctctctctcttacccggatgaggaatgcaat
gaggcctgcctggagggctgcttctgccccccagggctctacatggatgagaggggggac
tgcgtgcccaaggcccagtgcccctgttactatgacggtgagatcttccagccagaagac
atcttctcagaccatcacaccatgtgctactgtgaggatggcttcatgcactgtaccatg
agtggagtccccggaagcttgctgcctgacgctgtcctcagcagtcccctgtctcatcgc
agcaaaaggagcctatcctgtcggccccccatggtcaagctggtgtgtcccgctgacaac
ctgcgggctgaagggctcgagtgtaccaaaacgtgccagaactatgacctggagtgcatg
agcatgggctgtgtctctggctgcctctgccccccgggcatggtccggcatgagaacaga
tgtgtggccctggaaaggtgtccctgcttccatcagggcaaggagtatgcccctggagaa
acagtgaagattggctgcaacacttgtgtctgtcgggaccggaagtggaactgcacagac
catgtgtgtgatgccacgtgctccacgatcggcatggcccactacctcaccttcgacggg
ctcaaatacctgttccccggggagtgccagtacgttctggtgcaggattactgcggcagt
aaccctgggacctttcggatcctagtggggaataagggatgcagccacccctcagtgaaa
tgcaagaaacgggtcaccatcctggtggagggaggagagattgagctgtttgacggggag
gtgaatgtgaagaggcccatgaaggatgagactcactttgaggtggtggagtctggccgg
tacatcattctgctgctgggcaaagccctctccgtggtctgggaccgccacctgagcatc
tccgtggtcctgaagcagacataccaggagaaagtgtgtggcctgtgtgggaattttgat
ggcatccagaacaatgacctcaccagcagcaacctccaagtggaggaagaccctgtggac
tttgggaactcctggaaagtgagctcgcagtgtgctgacaccagaaaagtgcctctggac
tcatcccctgccacctgccataacaacatcatgaagcagacgatggtggattcctcctgt
agaatccttaccagtgacgtcttccaggactgcaacaagctggtggaccccgagccatat
ctggatgtctgcatttacgacacctgctcctgtgagtccattggggactgcgcctgcttc
tgcgacaccattgctgcctatgcccacgtgtgtgcccagcatggcaaggtggtgacctgg
aggacggccacattgtgcccccagagctgcgaggagaggaatctccgggagaacgggtat
gagtgtgagtggcgctataacagctgtgcacctgcctgtcaagtcacgtgtcagcaccct
gagccactggcctgccctgtgcagtgtgtggagggctgccatgcccactgccctccaggg
aaaatcctggatgagcttttgcagacctgcgttgaccctgaagactgtccagtgtgtgag
gtggctggccggcgttttgcctcaggaaagaaagtcaccttgaatcccagtgaccctgag
cactgccagatttgccactgtgatgttgtcaacctcacctgtgaagcctgccaggagccg
ggaggcctggtggtgcctcccacagatgccccggtgagccccaccactctgtatgtggag
gacatctcggaaccgccgttgcacgatttctactgcagcaggctactggacctggtcttc
ctgctggatggctcctccaggctgtccgaggctgagtttgaagtgctgaaggcctttgtg
gtggacatgatggagcggctgcgcatctcccagaagtgggtccgcgtggccgtggtggag
taccacgacggctcccacgcctacatcgggctcaaggaccggaagcgaccgtcagagctg
cggcgcattgccagccaggtgaagtatgcgggcagccaggtggcctccaccagcgaggtc
ttgaaatacacactgttccaaatcttcagcaagatcgaccgccctgaagcctcccgcatc
accctgctcctgatggccagccaggagccccaacggatgtcccggaactttgtccgctac
gtccagggcctgaagaagaagaaggtcattgtgatcccggtgggcattgggccccatgcc
aacctcaagcagatccgcctcatcgagaagcaggcccctgagaacaaggccttcgtgctg
agcagtgtggatgagctggagcagcaaagggacgagatcgttagctacctctgtgacctt
gcccctgaagcccctcctcctactctgccccccgacatggcacaagtcactgtgggcccg
gggctcttgggggtttcgaccctggggcccaagaggaactccatggttctggatgtggcg
ttcgtcctggaaggatcggacaaaattggtgaagccgacttcaacaggagcaaggagttc
atggaggaggtgattcagcggatggatgtgggccaggacagcatccacgtcacggtgctg
cagtactcctacatggtgactgtggagtaccccttcagcgaggcacagtccaaaggggac
atcctgcagcgggtgcgagagatccgctaccagggcggcaacaggaccaacactgggctg
gccctgcggtacctctctgaccacagcttcttggtcagccagggtgaccgggagcaggcg
cccaacctggtctacatggtcaccggaaatcctgcctctgatgagatcaagaggctgcct
ggagacatccaggtggtgcccattggagtgggccctaatgccaacgtgcaggagctggag
aggattggctggcccaatgcccctatcctcatccaggactttgagacgctcccccgagag
gctcctgacctggtgctgcagaggtgctgctccggagaggggctgcagatccccaccctc
tcccctgcacctgactgcagccagcccctggacgtgatccttctcctggatggctcctcc
agtttcccagcttcttattttgatgaaatgaagagtttcgccaaggctttcatttcaaaa
gccaatatagggcctcgtctcactcaggtgtcagtgctgcagtatggaagcatcaccacc
attgacgtgccatggaacgtggtcccggagaaagcccatttgctgagccttgtggacgtc
atgcagcgggagggaggccccagccaaatcggggatgccttgggctttgctgtgcgatac
ttgacttcagaaatgcatggtgccaggccgggagcctcaaaggcggtggtcatcctggtc
acggacgtctctgtggattcagtggatgcagcagctgatgccgccaggtccaacagagtg
acagtgttccctattggaattggagatcgctacgatgcagcccagctacggatcttggca
ggcccagcaggcgactccaacgtggtgaagctccagcgaatcgaagacctccctaccatg
gtcaccttgggcaattccttcctccacaaactgtgctctggatttgttaggatttgcatg
gatgaggatgggaatgagaagaggcccggggacgtctggaccttgccagaccagtgccac
accgtgacttgccagccagatggccagaccttgctgaagagtcatcgggtcaactgtgac
cgggggctgaggccttcgtgccctaacagccagtcccctgttaaagtggaagagacctgt
ggctgccgctggacctgcccctgcgtgtgcacaggcagctccactcggcacatcgtgacc
tttgatgggcagaatttcaagctgactggcagctgttcttatgtcctatttcaaaacaag
gagcaggacctggaggtgattctccataatggtgcctgcagccctggagcaaggcagggc
tgcatgaaatccatcgaggtgaagcacagtgccctctccgtcgagctgcacagtgacatg
gaggtgacggtgaatgggagactggtctctgttccttacgtgggtgggaacatggaagtc
aacgtttatggtgccatcatgcatgaggtcagattcaatcaccttggtcacatcttcaca
ttcactccacaaaacaatgagttccaactgcagctcagccccaagacttttgcttcaaag
acgtatggtctgtgtgggatctgtgatgagaacggagccaatgacttcatgctgagggat
ggcacagtcaccacagactggaaaacacttgttcaggaatggactgtgcagcggccaggg
cagacgtgccagcccatcctggaggagcagtgtcttgtccccgacagctcccactgccag
gtcctcctcttaccactgtttgctgaatgccacaaggtcctggctccagccacattctat
gccatctgccagcaggacagttgccaccaggagcaagtgtgtgaggtgatcgcctcttat
gcccacctctgtcggaccaacggggtctgcgttgactggaggacacctgatttctgtgct
atgtcatgcccaccatctctggtctacaaccactgtgagcatggctgtccccggcactgt
gatggcaacgtgagctcctgtggggaccatccctccgaaggctgtttctgccctccagat
aaagtcatgttggaaggcagctgtgtccctgaagaggcctgcactcagtgcattggtgag
gatggagtccagcaccagttcctggaagcctgggtcccggaccaccagccctgtcagatc
tgcacatgcctcagcgggcggaaggtcaactgcacaacgcagccctgccccacggccaaa
gctcccacgtgtggcctgtgtgaagtagcccgcctccgccagaatgcagaccagtgctgc
cccgagtatgagtgtgtgtgtgacccagtgagctgtgacctgcccccagtgcctcactgt
gaacgtggcctccagcccacactgaccaaccctggcgagtgcagacccaacttcacctgc
gcctgcaggaaggaggagtgcaaaagagtgtccccaccctcctgccccccgcaccgtttg
cccacccttcggaagacccagtgctgtgatgagtatgagtgtgcctgcaactgtgtcaac
tccacagtgagctgtccccttgggtacttggcctcaactgccaccaatgactgtggctgt
accacaaccacctgccttcccgacaaggtgtgtgtccaccgaagcaccatctaccctgtg
ggccagttctgggaggagggctgcgatgtgtgcacctgcaccgacatggaggatgccgtg
atgggcctccgcgtggcccagtgctcccagaagccctgtgaggacagctgtcggtcgggc
ttcacttacgttctgcatgaaggcgagtgctgtggaaggtgcctgccatctgcctgtgag
gtggtgactggctcaccgcggggggactcccagtcttcctggaagagtgtcggctcccag
tgggcctccccggagaacccctgcctcatcaatgagtgtgtccgagtgaaggaggaggtc
tttatacaacaaaggaacgtctcctgcccccagctggaggtccctgtctgcccctcgggc
tttcagctgagctgtaagacctcagcgtgctgcccaagctgtcgctgtgagcgcatggag
gcctgcatgctcaatggcactgtcattgggcccgggaagactgtgatgatcgatgtgtgc
acgacctgccgctgcatggtgcaggtgggggtcatctctggattcaagctggagtgcagg
aagaccacctgcaacccctgccccctgggttacaaggaagaaaataacacaggtgaatgt
tgtgggagatgtttgcctacggcttgcaccattcagctaagaggaggacagatcatgaca
ctgaagcgtgatgagacgctccaggatggctgtgatactcacttctgcaaggtcaatgag
agaggagagtacttctgggagaagagggtcacaggctgcccaccctttgatgaacacaag
tgtctggctgagggaggtaaaattatgaaaattccaggcacctgctgtgacacatgtgag
gagcctgagtgcaacgacatcactgccaggctgcagtatgtcaaggtgggaagctgtaag
tctgaagtagaggtggatatccactactgccagggcaaatgtgccagcaaagccatgtac
tccattgacatcaacgatgtgcaggaccagtgctcctgctgctctccgacacggacggag
cccatgcaggtggccctgcactgcaccaatggctctgttgtgtaccatgaggttctcaat
gccatggagtgcaaatgctcccccaggaagtgcagcaagtga

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Ontology (4)   
   KEGG BRITE (4)   
Pathway (6)   
   KEGG PATHWAY (6)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (91)   
   KEGG ORTHOLOGY (1)   
   RefGene (82)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (37)   
   RefSeq(nuc) (1)   
   GenBank (18)   
   EMBL (18)   
Protein domain (9)   
   Pfam (9)   
All databases (157)   

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