ATXN7 and EFEMP1

Number of citations of the paper that reports this interaction (PubMedID 21078624)
125

Data Source:
BioGRID (two hybrid)

		ATXN7	EFEMP1
Description		ataxin 7	EGF-like fibulin extracellular matrix protein 1
Image			No pdb structure
GO Annotations	Cellular Component	SAGA Complex Nucleus Nucleoplasm Nucleolus Cytoplasm Cytosol Cytoskeleton Microtubule Cytoskeleton Nuclear Matrix Transcription Factor TFTC Complex	Extracellular Region Extracellular Space Extracellular Matrix Extracellular Exosome
	Molecular Function	Protein Binding	Epidermal Growth Factor Receptor Activity Epidermal Growth Factor Receptor Binding Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Activity
	Biological Process	Microtubule Cytoskeleton Organization Regulation Of DNA Repair Regulation Of Transcription By RNA Polymerase II Nucleus Organization Negative Regulation Of Microtubule Depolymerization Visual Perception Regulation Of RNA Splicing Positive Regulation Of DNA-templated Transcription	Regulation Of DNA-templated Transcription 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
Pathways		HATs acetylate histones Ub-specific processing proteases	Molecules associated with elastic fibres Molecules associated with elastic fibres
Drugs
Diseases		Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)	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)
GWAS		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) Cataracts ( 34127677) Cortical surface area (MOSTest) ( 32665545) Diastolic blood pressure ( 30224653) Estimated glomerular filtration rate ( 31152163) Red cell distribution width ( 32888494) Refractive error ( 32231278) Schizophrenia ( 25056061 28991256 29483656) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Type 2 diabetes ( 30054458)	A body shape index ( 34021172) Amyotrophic lateral sclerosis ( 19451621) Appendicular lean mass ( 33097823) 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) Glaucoma (primary open-angle) ( 33627673) Height ( 18391952 31562340 28552196 33713608 34270706 25429064 18391951 19396169 19893584 20189936 20397748 20881960 23563607 25282103) Hip circumference adjusted for BMI ( 34021172 25673412) Inguinal hernia ( 26686553) Intraocular pressure ( 29235454 29617998 29785010 30054594) Joint mobility (Beighton score) ( 27182965) Lung function (FEV1/FVC) ( 30804560) Lung function (forced vital capacity) ( 24929828) Lung function (FVC) ( 30804560) Lung volume ( 34128465) Metabolite levels ( 23823483) Optic cup area ( 28073927 25631615) 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 ( 25673412 26785701 28552196 34021172 28448500) Waist-hip index ( 34021172) White matter hyperintensities ( 32358547) White matter hyperintensity burden ( 25663218) White matter hyperintensity volume ( 33293549 29752348 30659137) White matter hyperintensity volume (adjusted for hypertension) ( 33293549) White matter hyperintensity volume x hypertension interaction (2df) ( 33293549) Youthful appearance (self-reported) ( 32339537)
Interacting Genes		58 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 VCP VWF	49 interacting genes: ANAPC11 ARAF ATN1 ATXN7 BAG4 BAG5 BAG6 CACNA1A CACNA1C CLPP CRYBA4 CYSRT1 DDIAS DSCR9 DYRK1A ERRFI1 FAM110A GFI1B HOXA1 HSD3B7 IGFBP6 KHDRBS1 KRTAP19-2 KRTAP21-2 KRTAP6-1 LCE1C LCE2C LCE3A LCE3D MEOX2 MKRN3 MSRB3 NLGN3 NOS3 NR4A3 NUFIP2 RAF1 RERE RIC8A SGTA SHANK3 SLPI SOCS6 TIMP3 TMEM132D TNIP1 TRAF2 TXNDC5 UBQLN2
Entrez ID		6314	2202
HPRD ID		06365	03331
Ensembl ID		ENSG00000163635	ENSG00000115380
Uniprot IDs		O15265 Q9UPD8	A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805
PDB IDs		2KKR 7KTR 7KTS 8H7G
Enriched GO Terms of Interacting Partners?		Extracellular Matrix Structural Constituent Integrin Binding Basement Membrane Identical Protein Binding Calcium Ion Binding Platelet Alpha Granule Lumen Extracellular Matrix Positive Regulation Of Proteasomal Protein Catabolic Process Positive Regulation Of Catabolic Process Extracellular Region Cell-substrate Junction Assembly Microfibril Positive Regulation Of Proteolysis Positive Regulation Of Proteolysis Involved In Protein Catabolic Process Positive Regulation Of Protein Catabolic Process Cell-substrate Junction Organization Pseudopodium Positive Regulation Of Protein Metabolic Process Transcription Factor TFTC Complex Positive Regulation Of Metabolic Process Ubiquitin-specific Protease Binding Cytoplasm Regulation Of Protein Catabolic Process Laminin Complex SAGA Complex Actin Filament Binding Regulation Of Proteasomal Protein Catabolic Process Ubiquitin-like Protein Ligase Binding Focal Adhesion Assembly Regulation Of Cellular Component Organization Positive Regulation Of Muscle Cell Differentiation Positive Regulation Of Macromolecule Metabolic Process Protein Binding Positive Regulation Of Cellular Component Organization Retina Development In Camera-type Eye Nervous System Development Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Regulation Of Programmed Cell Death Post-embryonic Eye Morphogenesis Heparin Binding Regulation Of Cell Communication Regulation Of Signal Transduction Regulation Of Signaling Ubiquitin Protein Ligase Activity Ubiquitin-protein Transferase Activity Regulation Of Protein Metabolic Process Regulation Of Basement Membrane Organization Polyubiquitin Modification-dependent Protein Binding Positive Regulation Of Xenophagy Protein Complex Involved In Cell-matrix Adhesion	Keratinization Regulation Of Proteasomal Protein Catabolic Process Positive Regulation Of ERAD Pathway Regulation Of ERAD Pathway Epidermis Development Regulation Of Protein Catabolic Process Identical Protein Binding Regulation Of Proteolysis Negative Regulation Of Apoptotic Process Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Programmed Cell Death Positive Regulation Of Response To Endoplasmic Reticulum Stress Regulation Of Protein Metabolic Process Positive Regulation Of Glutamate Receptor Signaling Pathway Post-translational Protein Targeting To Endoplasmic Reticulum Membrane Negative Regulation Of Protein Catabolic Process Regulation Of Type B Pancreatic Cell Proliferation Regulation Of Glutamate Receptor Signaling Pathway Protein Binding High Voltage-gated Calcium Channel Activity Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process
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