HEYL and RPGRIP1

Data Source:
BioGRID (two hybrid)

		HEYL	RPGRIP1
Description		hes related family bHLH transcription factor with YRPW motif like	RPGR interacting protein 1
Image		No pdb structure
GO Annotations	Cellular Component	Chromatin Nucleus Nucleoplasm Cytoplasm	Axoneme Photoreceptor Connecting Cilium Ciliary Transition Zone Photoreceptor Distal Connecting Cilium
	Molecular Function	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Repressor Activity, RNA Polymerase II-specific DNA-binding Transcription Activator Activity, RNA Polymerase II-specific DNA-binding Transcription Factor Activity Protein Binding Transcription Factor Binding Protein Homodimerization Activity AF-1 Domain Binding	Protein Binding
	Biological Process	Negative Regulation Of Transcription By RNA Polymerase II Outflow Tract Morphogenesis Aortic Valve Morphogenesis Atrioventricular Valve Morphogenesis Pulmonary Valve Morphogenesis Epithelial To Mesenchymal Transition Involved In Endocardial Cushion Formation Endocardial Cushion Morphogenesis Cardiac Ventricle Morphogenesis Regulation Of Transcription By RNA Polymerase II Notch Signaling Pathway Positive Regulation Of Transcription Of Notch Receptor Target Anterior/posterior Pattern Specification Mesenchymal Cell Development Glomerulus Development Skeletal Muscle Cell Differentiation Negative Regulation Of DNA-binding Transcription Factor Activity Positive Regulation Of Neuron Differentiation Negative Regulation Of Transcription, DNA-templated Positive Regulation Of Transcription By RNA Polymerase II Regulation Of Neurogenesis Cardiac Epithelial To Mesenchymal Transition Ventricular Septum Morphogenesis Negative Regulation Of Androgen Receptor Signaling Pathway Notch Signaling Involved In Heart Development Cellular Response To BMP Stimulus Proximal Tubule Development	Visual Perception Retinal Rod Cell Development Response To Stimulus Neural Precursor Cell Proliferation Non-motile Cilium Assembly
Pathways		NOTCH1 Intracellular Domain Regulates Transcription Constitutive Signaling by NOTCH1 PEST Domain Mutants Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants NOTCH3 Intracellular Domain Regulates Transcription
Drugs
Diseases			Leber congenital amaurosis (LCR) Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
GWAS		HDL cholesterol levels ( 30698716) HDL cholesterol levels in current drinkers ( 30698716) HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716) Red blood cell traits ( 23222517) Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df) ( 30698716) Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df) ( 30698716)	Body mass index ( 26426971) Body mass index (age>50) ( 26426971) Body mass index x sex x age interaction (4df test) ( 26426971) Electrocardiogram morphology (amplitude at temporal datapoints) ( 32916098) Height ( 31562340) Refractive error ( 32231278) Superior temporal sulcus banks volume ( 31530798)
Interacting Genes		21 interacting genes: APP ATF7IP ATXN1 BANP HAND1 HAND2 HIPK3 HTT KRTAP6-2 LAPTM5 MDFI PLEKHB2 PPP1CA RBPMS RPGRIP1 SKIL SMAD3 SMAD7 SMAD9 SP8 ZNF512B	26 interacting genes: AEN BRCA1 CBX8 CCDC146 CHCHD3 CSPP1 DPPA4 FAM74A4 FEM1C GATAD2B HEYL IQCE MAGEB2 NPHP4 PTF1A RNF6 RPGR RPP25L SCNM1 TBC1D7 TFPT TRIB3 ZNF337 ZNF417 ZNF564 ZNF688
Entrez ID		26508	57096
HPRD ID		16419	05673
Ensembl ID		ENSG00000163909	ENSG00000092200
Uniprot IDs		Q9NQ87	Q96KN7
PDB IDs			4QAM
Enriched GO Terms of Interacting Partners?
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