ENSMUSG00000001930


Mus musculus

Features
Gene ID: ENSMUSG00000001930
  
Biological name :Vwf
  
Synonyms : Von Willebrand factor / Vwf
  
Possible biological names infered from orthology : P04275
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: F3
Gene start: 125546774
Gene end: 125686679
  
Corresponding Affymetrix probe sets: 10541910 (MoGene1.0st)   1435386_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000098502
Ensembl peptide - ENSMUSP00000107872
Ensembl peptide - ENSMUSP00000107873
Ensembl peptide - ENSMUSP00000138132
NCBI entrez gene - 22371     See in Manteia.
MGI - MGI:98941
RefSeq - XM_006505918
RefSeq - NM_011708
RefSeq - XM_006505917
RefSeq Peptide - NP_035838
swissprot - Q3TD35
swissprot - Q3TPE1
swissprot - S4R195
swissprot - E9QPU1
Ensembl - ENSMUSG00000001930
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 vwfENSDARG00000077231Danio rerio
 VWFENSGALG00000017272Gallus gallus
 VWFENSG00000110799Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Muc5b / Q9HC84* / mucin 5B, oligomeric mucus/gel-forming*ENSMUSG0000006610824
Sspo / Q8CG65 / SCO-spondin ENSMUSG0000002979723
Muc5ac / P98088* / mucin 5AC, oligomeric mucus/gel-forming*ENSMUSG0000003797423
Otog / otogelin / Q6ZRI0*ENSMUSG0000000948722
Otogl / F7A4A7 / Otogelin-like protein / Q3ZCN5* / otogelin like*ENSMUSG0000009145521
Zan / zonadhesin / zonadhesin (gene/pseudogene)*ENSMUSG0000007917316
Muc6 / mucin-6 / Q6W4X9* / mucin 6, oligomeric mucus/gel-forming*ENSMUSG0000004819115
9530053A07Rik / RIKEN cDNA 9530053A07 gene / FCGBP* / Fc fragment of IgG binding protein*ENSMUSG0000007877614
Fcgbp / Fc fragment of IgG binding protein*ENSMUSG0000004773014
Tecta / O08523 / tectorin alpha / O75443*ENSMUSG0000003770513


Protein motifs (from Interpro)
Interpro ID Name
 IPR001007  VWFC domain
 IPR001846  von Willebrand factor, type D domain
 IPR002035  von Willebrand factor, type A
 IPR002919  Trypsin Inhibitor-like, cysteine rich domain
 IPR006207  Cystine knot, C-terminal
 IPR014853  Uncharacterised domain, cysteine-rich
 IPR030119  SCO-spondin
 IPR032361  von Willebrand factor, VWA N-terminal domain
 IPR036084  Serine protease inhibitor-like superfamily
 IPR036465  von Willebrand factor A-like domain superfamily
 IPR037578  Von Willebrand factor-related


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007596 blood coagulation IEA
 biological_processGO:0007599 hemostasis IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030168 platelet activation IEA
 biological_processGO:0031589 cell-substrate adhesion IEA
 biological_processGO:0051260 protein homooligomerization IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 cellular_componentGO:0033093 Weibel-Palade body IEA
 molecular_functionGO:0002020 protease binding IEA
 molecular_functionGO:0005178 integrin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005518 collagen binding IEA
 molecular_functionGO:0019865 immunoglobulin binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0051087 chaperone binding IEA


Pathways (from Reactome)
Pathway description
Platelet degranulation
Intrinsic Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin alphaIIb beta3 signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
GP1b-IX-V activation signalling
MAP2K and MAPK activation
Platelet Adhesion to exposed collagen
Platelet Aggregation (Plug Formation)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001634 internal hemorrhage "blood loss in the interior of the body due to vessel rupture or dysmorphology " [J:23170]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

 MP:0002412 increased susceptibility to bacterial infection "greater likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129S2-Vwftm1Wgr

 MP:0002551 abnormal blood coagulation "altered ability or inability of the blood to clot" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

Allelic Composition: Vwftm1Wgr/Vwf+
Genetic Background: involves: 129S2/SvPas * C57BL/6J

Allelic Composition: Fgatm1Jld/Fgatm1Jld,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6J

Allelic Composition: Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129S2-Vwftm1Wgr

Allelic Composition: Adamts13tm1Dgi/Adamts13tm1Dgi,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129-Adamts13tm1Dgi Vwftm1Wgr

 MP:0003038 decreased infarction size "decreased size of necrotic area from normal of the myocardium resulting from a sudden insufficiency of arterial or venous blood supply due to emboli, thrombi or mechanical factors" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Adamts13tm1Dgi/Adamts13tm1Dgi,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129-Adamts13tm1Dgi Vwftm1Wgr

 MP:0003292 melena "dark colored, foul-smelling feces due to the presence of blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

 MP:0004720 abnormal platelet morphology "any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Gria2tm1Rod/Gria2+
Genetic Background: B6.129-Gria2tm1Rod/J

 MP:0004799 increased susceptibility to experimental autoimmune encephalomyelitis "greater likelihood that an organism will develop disease symptoms similar to human multiple sclerosis upon induction with antigens to Myelin Basic Protein (MBP), Proteolipid Protein (PLP), and/or Myelin Oligodendrocyte glycoprotein (MOG)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129S2-Vwftm1Wgr

 MP:0005167 abnormal blood-brain barrier "anomaly in the structure or function of the group of barriers and transport systems in the brain capillary endothelium that controls the entrance of substances into the brain extracellular space from the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129S2-Vwftm1Wgr

 MP:0005341 decreased susceptibility to atherosclerosis "less likely than the norm to develop thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129S-Vwftm1Wgr Ldlrtm1Her

 MP:0005464 abnormal platelet physiology "atypical response of the non-nucleated cells found in the blood and involved in blood coagulation" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Rb1tm2Brn/Rb1tm2Brn,Trp53tm1Brd/Trp53+,Tg(Rbp3-cre)1Brn/0
Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6 * FVB/N

Allelic Composition: Vwftm1.1Diac/Vwftm1.1Diac
Genetic Background: Not Specified

Allelic Composition: Vwftm2.1Diac/Vwftm2.1Diac
Genetic Background: Not Specified

Allelic Composition: Vwftm3.1(VWF)Diac/Vwftm3.1(VWF)Diac
Genetic Background: Not Specified

 MP:0006059 decreased susceptibility to ischemic brain injury "decreased lesion size following loss of circulation in a region of the brain; may be induced or spontaneous" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Adamts13tm1Dgi/Adamts13tm1Dgi,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129-Adamts13tm1Dgi Vwftm1Wgr

 MP:0006298 abnormal platelet activation "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Vwftm1.1Diac/Vwftm1.1Diac
Genetic Background: Not Specified

 MP:0008874 decreased sensitivity to xenobiotics "increase in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gria2tm1Rod/Gria2+
Genetic Background: B6.129-Gria2tm1Rod/J

 MP:0009767 decreased sensitivity to xenobiotic induced morbidity/mortality "increase in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gria2tm1Rod/Gria2+
Genetic Background: B6.129-Gria2tm1Rod/J

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Fgatm1Jld/Fgatm1Jld,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6J

 MP:0020215 impaired blood coagulation "impaired ability of the blood to clot" [GOC:NV]
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Allelic Composition: Vwftm1.1Diac/Vwftm1.1Diac
Genetic Background: Not Specified

Allelic Composition: Vwftm2.1Diac/Vwftm2.1Diac
Genetic Background: Not Specified

Allelic Composition: Vwftm3.1(VWF)Diac/Vwftm3.1(VWF)Diac
Genetic Background: Not Specified

 MP:0020332 impaired leukocyte tethering or rolling "reduced ability or inability in the transient adhesive interactions between leukocytes and endothelial cells lining blood vessels mediated primarily by selectins and which are typically the first step in cellular extravasation" [GO:0050901, ORCID: orcid.org/0000-0003-4606-0597]
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Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Vwftm1Wgr/Vwftm1Wgr
Genetic Background: B6.129S-Vwftm1Wgr Ldlrtm1Her

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000059923 Grb2 / Q60631 / Growth factor receptor-bound protein 2 / P62993*  / complex / reaction
 ENSMUSG00000020689 Itgb3 / O54890 / Integrin beta-3 / P05106* / AC068234.1* / integrin subunit beta 3*  / reaction / complex
 ENSMUSG00000031196 F8 / Q06194 / Coagulation factor VIII / P00451*  / reaction / complex
 ENSMUSG00000027087 Itgav / P43406 / Integrin alpha-V Integrin alpha-V heavy chain Integrin alpha-V light chain / P06756* / integrin subunit alpha V*  / complex / reaction
 ENSMUSG00000031328 Flna / Q8BTM8 / Filamin-A / P21333*  / complex / reaction
 ENSMUSG00000027249 F2 / P19221 / Prothrombin Activation peptide fragment 1 Activation peptide fragment 2 Thrombin light chain Thrombin heavy chain / P00734* / coagulation factor II, thrombin*  / reaction / complex
 ENSMUSG00000027646 Src / P05480 / Neuronal proto-onco tyrosine-protein kinase Src / P12931* / SRC proto-oncogene, non-receptor tyrosine kinase*  / reaction / complex
 ENSMUSG00000032312 Csk / P41241 / Tyrosine-protein kinase CSK / P41240* / C-terminal Src kinase*  / reaction / complex
 ENSMUSG00000030054 Gp9 / O88186 / glycoprotein 9 (platelet) / P14770* / glycoprotein IX platelet*  / complex / reaction
 ENSMUSG00000027540 Ptpn1 / P35821 / protein tyrosine phosphatase, non-receptor type 1 / P18031*  / reaction
 ENSMUSG00000050675 Gp1ba / O35930 / glycoprotein 1b, alpha polypeptide / P07359* / glycoprotein Ib platelet alpha subunit*  / reaction / complex
 ENSMUSG00000024241 Sos1 / Q62245 / Son of sevenless homolog 1 / Q07889* / SOS Ras/Rac guanine nucleotide exchange factor 1*  / reaction / complex
 ENSMUSG00000021457 Syk / P48025 / spleen tyrosine kinase / P43405* / spleen associated tyrosine kinase*  / reaction / complex
 ENSMUSG00000050761 Gp1bb / P56400 / glycoprotein Ib, beta polypeptide / P13224* / glycoprotein Ib platelet beta subunit*  / complex / reaction
 ENSMUSG00000047953 Gp5 / glycoprotein V platelet / P40197*  / complex / reaction
 ENSMUSG00000028465 Tln1 / P26039 / talin 1 / Q9Y490*  / reaction / complex
 ENSMUSG00000017776 Crk / Q64010 / Adapter molecule crk / P46108* / CRK proto-oncogene, adaptor protein*  / complex / reaction
 ENSMUSG00000031955 Bcar1 / Q61140 / Breast cancer anti-estrogen resistance protein 1 / P56945* / BCAR1, Cas family scaffolding protein*  / reaction / complex
 ENSMUSG00000001930 Vwf / Von Willebrand factor / P04275*  / complex / -
 ENSMUSG00000021823 Vcl / Q64727 / vinculin / P18206*  / complex
 ENSMUSG00000052681 Rap1b / Q99JI6 / RAS related protein 1b / P61224* / RAP1B, member of RAS oncogene family*  / complex / reaction
 ENSMUSG00000034664 Itga2b / Q9QUM0 / integrin alpha 2b / P08514* / integrin subunit alpha 2b*  / complex / reaction
 ENSMUSG00000022607 Ptk2 / P34152 / PTK2 protein tyrosine kinase 2 / Q05397* / protein tyrosine kinase 2*  / complex / reaction
 ENSMUSG00000068798 Rap1a / P62835 / RAS-related protein 1a / P62834* / RAP1A, member of RAS oncogene family*  / reaction / complex
 ENSMUSG00000041417 P26450 / Pik3r1 / phosphoinositide-3-kinase regulatory subunit 1 / P27986*  / reaction / complex
 ENSMUSG00000026786 Q8R5A3 / Apbb1ip / amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein / Q7Z5R6* / amyloid beta precursor protein binding family B member 1 interacting protein*  / reaction / complex






 

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