EFEMP1 and ATXN7

Data Source:
BioGRID (two hybrid)

		EFEMP1	ATXN7
Description		EGF containing fibulin extracellular matrix protein 1	ataxin 7
Image		No pdb structure
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Extracellular Matrix Collagen-containing Extracellular Matrix Extracellular Exosome	Nucleus Nucleoplasm Nucleolus Cytosol Microtubule Cytoskeleton Nuclear Matrix
	Molecular Function	Epidermal Growth Factor-activated Receptor Activity Epidermal Growth Factor Receptor Binding Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Activity	Protein Binding
	Biological Process	Regulation Of Transcription, DNA-templated Epidermal Growth Factor Receptor Signaling Pathway Visual Perception Peptidyl-tyrosine Phosphorylation Negative Regulation Of Chondrocyte Differentiation Camera-type Eye Development Embryonic Eye Morphogenesis Post-embryonic Eye Morphogenesis	Microtubule Cytoskeleton Organization Nucleus Organization Negative Regulation Of Microtubule Depolymerization Visual Perception Histone Deubiquitination Protein Deubiquitination
Pathways		Molecules associated with elastic fibres Molecules associated with elastic fibres	HATs acetylate histones Ub-specific processing proteases
Drugs
Diseases		Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)	Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
GWAS		Amyotrophic lateral sclerosis ( 19451621) Blood protein levels ( 30072576) Body fat distribution (arm fat ratio) ( 30664634) Body fat distribution (leg fat ratio) ( 30664634) Body fat distribution (trunk fat ratio) ( 30664634) Carpal tunnel syndrome ( 30833571) Childhood ear infection ( 27182965 28928442) Chronic venous disease ( 28374850) Deep white matter hyperintensities ( 32517579) Diastolic blood pressure ( 30578418) Diverticular disease ( 30177863) FEV1 ( 30804560) Height ( 28552196 20881960 25282103 25429064 19396169 19893584 23563607 31562340 18391951 18391952 20397748 20189936) Hip circumference adjusted for BMI ( 25673412) Inguinal hernia ( 26686553) Intraocular pressure ( 29617998 29785010 30054594 29235454) Joint mobility (Beighton score) ( 27182965) Lung function (FEV1/FVC) ( 30804560) Lung function (forced vital capacity) ( 24929828) Lung function (FVC) ( 30804560) Metabolite levels ( 23823483) Optic cup area ( 25631615 28073927) Pelvic organ prolapse ( 32184442) Pelvic organ prolapse (moderate/severe) ( 26545240) Periventricular white matter hyperintensities ( 32517579) Pulse pressure ( 27841878 30578418) Refractive error ( 32231278) Spherical equivalent or myopia (age of diagnosis) ( 29808027) Vertical cup-disc ratio (adjusted for vertical disc diameter) ( 31959993) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) Waist circumference adjusted for BMI (adjusted for smoking behaviour) ( 28443625) Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction) ( 28448500) Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction) ( 28443625) Waist circumference adjusted for BMI in active individuals ( 28448500) Waist circumference adjusted for BMI in non-smokers ( 28443625) Waist circumference adjusted for BMI in smokers ( 28443625) Waist circumference adjusted for body mass index ( 28552196 26785701 25673412 28448500) White matter hyperintensities ( 32358547) White matter hyperintensity burden ( 25663218) White matter hyperintensity volume ( 29752348 30659137) Youthful appearance (self-reported) ( 32339537)	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		42 interacting genes: ANAPC11 ARAF ATN1 ATXN7 BAG4 BAG5 BAG6 CACNA1A CLPP CRYBA4 CYSRT1 DDIAS ERRFI1 FAM110A GFI1B HOXA1 HSD3B7 IGFBP6 KHDRBS1 KRTAP19-2 KRTAP21-2 KRTAP6-1 LCE1C LCE2C LCE3A LCE3D MEOX2 MKRN3 MSRB3 NOS3 NR4A3 RAF1 RERE RIC8A SGTA SLPI SOCS6 TIMP3 TNIP1 TRAF2 TXNDC5 UBQLN2	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		2202	6314
HPRD ID		03331	06365
Ensembl ID		ENSG00000115380	ENSG00000163635
Uniprot IDs		A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805	O15265 Q9UPD8
PDB IDs			2KKR
Enriched GO Terms of Interacting Partners?
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