NDUFAF3 and SCAP

		NDUFAF3	SCAP
Description		NADH:ubiquinone oxidoreductase complex assembly factor 3	SREBF chaperone
Image		No pdb structure
GO Annotations	Cellular Component	Nucleus Mitochondrion Mitochondrial Inner Membrane Membrane	Golgi Membrane Endoplasmic Reticulum Endoplasmic Reticulum Membrane Golgi Apparatus ER To Golgi Transport Vesicle Membrane Membrane Cytoplasmic Vesicle SREBP-SCAP Complex Protein-containing Complex
	Molecular Function	Protein Binding	Protein Binding Lipid Binding Sterol Binding Protein-containing Complex Binding Unfolded Protein Binding
	Biological Process	Mitochondrial Respiratory Chain Complex I Assembly	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
Pathways		Complex I biogenesis	Regulation of cholesterol biosynthesis by SREBP (SREBF) Regulation of cholesterol biosynthesis by SREBP (SREBF)
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		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)	Refractive error ( 32231278) Triglyceride levels ( 32203549)
Interacting Genes		16 interacting genes: AGTRAP CABP2 CYSRT1 GEM GOLGA6L9 INCA1 KRT27 KRTAP10-3 LSM1 MBD3L1 POU2AF1 RBCK1 REL RNF146 SNRPA UHMK1	5 interacting genes: INSIG1 INSIG2 PGRMC1 SEC24B SREBF2
Entrez ID		25915	22937
HPRD ID		16809	03300
Ensembl ID		ENSG00000178057	ENSG00000114650
Uniprot IDs		A4FU71 Q9BU61	B7Z6H0 Q12770
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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