VWF and ATXN7

Data Source:
BioGRID (two hybrid)

		VWF	ATXN7
Description		von Willebrand factor	ataxin 7
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GO Annotations	Cellular Component	Extracellular Region Extracellular Space Endoplasmic Reticulum Extracellular Matrix Platelet Alpha Granule Platelet Alpha Granule Lumen Weibel-Palade Body Collagen-containing Extracellular Matrix Extracellular Exosome	Nucleus Nucleoplasm Nucleolus Cytosol Microtubule Cytoskeleton Nuclear Matrix
	Molecular Function	Protease Binding Integrin Binding Extracellular Matrix Structural Constituent Protein Binding Collagen Binding Immunoglobulin Binding Identical Protein Binding Protein N-terminus Binding Chaperone Binding	Protein Binding
	Biological Process	Platelet Degranulation Cell Adhesion Blood Coagulation Blood Coagulation, Intrinsic Pathway Hemostasis Response To Wounding Platelet Activation Extracellular Matrix Organization Cell-substrate Adhesion	Microtubule Cytoskeleton Organization Nucleus Organization Negative Regulation Of Microtubule Depolymerization Visual Perception Histone Deubiquitination Protein Deubiquitination
Pathways		Platelet degranulation Intrinsic Pathway of Fibrin Clot Formation Integrin cell surface interactions Integrin 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 Signaling by moderate kinase activity BRAF mutants Signaling by high-kinase activity BRAF mutants Signaling by BRAF and RAF fusions Paradoxical activation of RAF signaling by kinase inactive BRAF Platelet Adhesion to exposed collagen Platelet Aggregation (Plug Formation) Signaling downstream of RAS mutants Signaling by RAF1 mutants Defective F8 cleavage by thrombin Defective F8 binding to von Willebrand factor	HATs acetylate histones Ub-specific processing proteases
Drugs		Antihemophilic factor, human recombinant Egaptivon pegol Caplacizumab Simoctocog alfa Antihemophilic Factor (Recombinant), PEGylated Susoctocog alfa Efmoroctocog alfa Lonoctocog alfa Moroctocog alfa
Diseases		Hemophilia; Hemophilia A (HEMA); Hemophilia B (HEMB); von Willebrand disease (VWD)	Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
GWAS		Blood protein levels ( 29875488) Coagulation factor levels ( 23267103) Factor VIII levels ( 20231535 30586737) Low vWF levels ( 26486471) Mean platelet volume ( 22139419 32888494 27863252) Peginterferon alfa-2a treatment response in chronic hepatitis B infection ( 30972912) Platelet count ( 26805783 22139419 32888494) Venous thromboembolism ( 31420334) vWF levels ( 20231535 30586737) vWF levels in ischaemic stroke and hyperhomocysteinaemia ( 28495826)	anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) ( 31835028) Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Diastolic blood pressure ( 30224653) Estimated glomerular filtration rate ( 31152163) Red cell distribution width ( 32888494) Refractive error ( 32231278) Schizophrenia ( 28991256 25056061 29483656) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Type 2 diabetes ( 30054458)
Interacting Genes		18 interacting genes: ADAMTS13 ATXN7 CACNA1A CALR COL1A1 COL1A2 COL3A1 F8 FURIN GP1BA HSPA5 ITGA2B MAP3K3 P4HB RAC1 SOCS4 TNFRSF11B ZNF512B	59 interacting genes: ACTN1 ACTN2 ACTN4 ADAM33 AGRN CARD10 CEP70 CEP72 COG6 CRIM1 CRX EFEMP1 EFEMP2 FBN1 FN1 GOLGA2 GOLGA3 GPRASP1 GRN ITPRID2 JAG2 KALRN KAT2A LAMB1 LAMB2 LRSAM1 LTBP4 MATN2 MEGF6 MPRIP NELL1 NELL2 NOC2L NUP62 PICK1 PNMA1 PPP1R12C PSMC1 RABEP1 RAD23A RNF31 SIAH1 SNX1 SPRY1 SUMO1 SUMO2 TAF10 THY1 TP53BP2 TRAF2 TRIM23 TRIM27 TRIM54 TRRAP TXNDC11 UBQLN2 USP22 VCP VWF
Entrez ID		7450	6314
HPRD ID		01906	06365
Ensembl ID		ENSG00000110799	ENSG00000163635
Uniprot IDs		P04275	O15265 Q9UPD8
PDB IDs		1AO3 1ATZ 1AUQ 1FE8 1FNS 1IJB 1IJK 1M10 1OAK 1SQ0 1U0N 1UEX 2ADF 2MHP 2MHQ 3GXB 3HXO 3HXQ 3PPV 3PPW 3PPX 3PPY 3ZQK 4C29 4C2A 4C2B 4DMU 4NT5 5BV8 6FWN 6N29	2KKR
Enriched GO Terms of Interacting Partners?
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