SCAP and NDUFAF3

		SCAP	NDUFAF3
Description		SREBF chaperone	NADH:ubiquinone oxidoreductase complex assembly factor 3
Image			No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus ER To Golgi Transport Vesicle Membrane Membrane Cytoplasmic Vesicle SREBP-SCAP Complex Protein-containing Complex	Nucleus Mitochondrion Mitochondrial Inner Membrane Membrane
	Molecular Function	Protein Binding Lipid Binding Sterol Binding Protein-containing Complex Binding Unfolded Protein Binding	Protein Binding
	Biological Process	Response To Hypoxia Lipid Metabolic Process Immune Response Steroid Metabolic Process Cholesterol Metabolic Process Regulation Of Fatty Acid Metabolic Process Response To Insulin SREBP Signaling Pathway Response To Vitamin B3 Regulation Of Fatty Acid Biosynthetic Process Regulation Of Cholesterol Biosynthetic Process Negative Regulation Of Cholesterol Biosynthetic Process Positive Regulation Of Cholesterol Biosynthetic Process COPII-coated Vesicle Cargo Loading	Mitochondrial Respiratory Chain Complex I Assembly
Pathways		Regulation of cholesterol biosynthesis by SREBP (SREBF) Regulation of cholesterol biosynthesis by SREBP (SREBF)	Complex I biogenesis
Drugs
Diseases			Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
GWAS		Refractive error ( 32231278) Triglyceride levels ( 32203549)	Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Crohn's disease ( 28067908) Inflammatory bowel disease ( 28067908) Mood instability ( 31168069) Subcortical volume (min-P) ( 32665545) Subcortical volume (MOSTest) ( 32665545) Ulcerative colitis ( 28067908)
Interacting Genes		12 interacting genes: ATG16L1 DHX30 HIPK2 INSIG1 INSIG2 KLHL18 LAMC2 NDUFAF3 PGRMC1 SEC24B SREBF2 WDR6	18 interacting genes: AGTRAP CABP2 CYSRT1 GEM GOLGA6L9 INCA1 KRT27 KRTAP10-3 LSM1 MBD3L1 POU2AF1 RBCK1 REL RNF146 SCAP SETD2 SNRPA UHMK1
Entrez ID		22937	25915
HPRD ID		03300	16809
Ensembl ID		ENSG00000114650	ENSG00000178057
Uniprot IDs		B7Z6H0 Q12770	A4FU71 Q9BU61
PDB IDs		6M49 7ETW
Enriched GO Terms of Interacting Partners?		SREBP-SCAP-Insig Complex SREBP Signaling Pathway Cellular Response To Sterol Depletion Response To Sterol Depletion Positive Regulation Of Cholesterol Biosynthetic Process Regulation Of Cargo Loading Into COPII-coated Vesicle Regulation Of Cholesterol Biosynthetic Process Positive Regulation Of Cholesterol Metabolic Process Positive Regulation Of Steroid Biosynthetic Process ER-nucleus Signaling Pathway SREBP-SCAP Complex Retention In Endoplasmic Reticulum Positive Regulation Of Steroid Metabolic Process Negative Regulation Of SREBP Signaling Pathway Regulation Of Cholesterol Metabolic Process Cranial Suture Morphogenesis Regulation Of SREBP Signaling Pathway Regulation Of Steroid Biosynthetic Process Maintenance Of Protein Localization In Endoplasmic Reticulum Positive Regulation Of Lipid Biosynthetic Process Oxysterol Binding Regulation Of Steroid Metabolic Process Craniofacial Suture Morphogenesis Cholesterol Metabolic Process Sterol Metabolic Process Negative Regulation Of Fatty Acid Biosynthetic Process Middle Ear Morphogenesis Positive Regulation Of Lipid Metabolic Process NLS-bearing Protein Import Into Nucleus Negative Regulation Of Steroid Biosynthetic Process Embryonic Morphogenesis Positive Regulation Of Small Molecule Metabolic Process Lung Morphogenesis Negative Regulation Of Steroid Metabolic Process Cholesterol Biosynthetic Process Regulation Of Lipid Biosynthetic Process Negative Regulation Of Fatty Acid Metabolic Process Sterol Biosynthetic Process Maintenance Of Protein Localization In Organelle Protein Sequestering Activity Regulation Of Fatty Acid Biosynthetic Process Steroid Metabolic Process Negative Regulation Of Cargo Loading Into COPII-coated Vesicle Maintenance Of Protein Location In Cell Regulation Of Establishment Of Planar Polarity Involved In Neural Tube Closure Vacuole-isolation Membrane Contact Site ER To Golgi Transport Vesicle Membrane Inner Ear Morphogenesis Triglyceride Metabolic Process Alcohol Metabolic Process Maintenance Of Protein Location
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