HSD3B7 and EFEMP1

Data Source:
BioGRID (two hybrid)

		HSD3B7	EFEMP1
Description		hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	EGF containing fibulin extracellular matrix protein 1
Image		No pdb structure	No pdb structure
GO Annotations	Cellular Component	Endoplasmic Reticulum Membrane Lipid Droplet Integral Component Of Membrane	Extracellular Region Extracellular Space Extracellular Matrix Collagen-containing Extracellular Matrix Extracellular Exosome
	Molecular Function	3-beta-hydroxy-delta5-steroid Dehydrogenase Activity Protein Binding Oxidoreductase Activity, Acting On The CH-OH Group Of Donors, NAD Or NADP As Acceptor Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase Activity	Epidermal Growth Factor-activated Receptor Activity Epidermal Growth Factor Receptor Binding Extracellular Matrix Structural Constituent Calcium Ion Binding Protein Binding Growth Factor Activity
	Biological Process	Bile Acid Biosynthetic Process B Cell Chemotaxis	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
Pathways		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 24-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol	Molecules associated with elastic fibres Molecules associated with elastic fibres
Drugs
Diseases		Familial cholestasis, including: Progressive familial intrahepatic cholestasis (PFIC); Benign recurrent intrahepatic cholestasis (BRIC); Intrahepatic cholestasis of pregnancy (ICP); North American Indian childhood cirrhosis (NAIC) Congenital bile acid synthesis defect (CBAS), including: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency (CBAS1); Delta(4)-3-oxosteroid 5-beta-reductase deficiency (CBAS2); Oxysterol 7-alpha-hydroxylase deficiency (CBAS3); Alpha-methylacyl-CoA racemase deficiency (CBAS4)	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			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)
Interacting Genes		58 interacting genes: ADAMTSL4 AGR2 ANAPC11 APPBP2 ARID5A ASB12 BTN2A2 C22orf39 COMT CREB5 CYSRT1 DAPP1 EFEMP1 EFEMP2 EGFL7 ELOVL4 EMG1 FBLN2 GLRX3 HOXA1 HSD17B13 ICAM1 KPNA4 KPRP KRT31 KRT40 KRT86 KRTAP1-3 KRTAP10-1 KRTAP10-3 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP13-3 KRTAP19-2 KRTAP4-2 KRTAP5-9 LCE4A LINGO1 MEI4 MEOX2 MGAT5B NOTCH2NLA NR4A3 OTX2 PYGL RBP3 REEP4 RGS17 RUSF1 SPRY2 SSC4D TMEM31 TMX2 TRIM42 YPEL3 ZBTB42 ZNF655	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
Entrez ID		80270	2202
HPRD ID		09680	03331
Ensembl ID		ENSG00000099377	ENSG00000115380
Uniprot IDs		Q9H2F3	A0A0S2Z3V1 A0A0S2Z4F1 B2R6M6 Q12805
PDB IDs
Enriched GO Terms of Interacting Partners?
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