EFEMP1

Name	EGF-like fibulin extracellular matrix protein 1
Structure	No pdb structure
Novel Interactors	1 novel interactors: XPO1
Interactors	49 interactors: 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
GO Annotations	Cellular Component	Extracellular Region Extracellular Space Extracellular Matrix Extracellular Exosome
	Molecular Function	Epidermal Growth Factor Receptor Activity Epidermal Growth Factor Receptor Binding Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Activity
	Biological Process	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	Molecules associated with elastic fibres Molecules associated with elastic fibres
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)
GWAS	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 )
Entrez ID	2202
HPRD ID	03331
Ensembl ID	ENSG00000115380
Uniprot IDs	A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805
PDB IDs	Not available
GO Terms Enriched among Interactors ?	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