TMEM67 and NDUFAF6

		TMEM67	NDUFAF6
Description		transmembrane protein 67	NADH:ubiquinone oxidoreductase complex assembly factor 6
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Endoplasmic Reticulum Endoplasmic Reticulum Membrane Centrosome Cytoskeleton Plasma Membrane Cilium Membrane Cytoplasmic Vesicle Membrane Ciliary Transition Zone MKS Complex Cell Projection Ciliary Membrane	Nucleus Cytoplasm Mitochondrion Mitochondrial Inner Membrane Membrane
	Molecular Function	Protein Binding Filamin Binding Unfolded Protein Binding	Protein Binding
	Biological Process	Negative Regulation Of Centrosome Duplication Cell Projection Organization Non-canonical Wnt Signaling Pathway ERAD Pathway Cilium Assembly	Mitochondrial Respiratory Chain Complex I Assembly
Pathways		Anchoring of the basal body to the plasma membrane	Complex I biogenesis
Drugs
Diseases		Joubert syndrome Meckel syndrome (MKS); Meckel-Gruber syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) COACH syndrome	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			Alcohol dependence symptom count ( 29460428) Alzheimer's disease ( 31473137) Alzheimer's disease (late onset) ( 24162737 30820047) Apolipoprotein A1 levels ( 32203549) Central corneal thickness ( 29760442 32528159) Fasting plasma glucose ( 31932636) HDL cholesterol levels ( 32203549) Hematocrit ( 32888494) Hemoglobin ( 32888494) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) Intraocular pressure ( 29617998) Keratoconus ( 33649486) Liver enzyme levels (alanine transaminase) ( 33972514) Macular thickness ( 30535121) Myocardial infarction ( 33532862) Platelet distribution width ( 32888494) Pulse pressure ( 30578418 30224653) Red blood cell count ( 32888494) Serum uric acid levels ( 30993211 29403010) Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia ( 25710658)
Interacting Genes		6 interacting genes: CIBAR1 INTS8 LAPTM4B MKS1 NDUFAF6 UBQLN1	3 interacting genes: GUCD1 OTX1 TMEM67
Entrez ID		91147	137682
HPRD ID		11324	17553
Ensembl ID		ENSG00000164953	ENSG00000156170
Uniprot IDs		C9JHI2 Q5HYA8	A0A075B6P0 Q330K2
PDB IDs		7FH1
Enriched GO Terms of Interacting Partners?		Ciliary Transition Zone Negative Regulation Of Store-operated Calcium Channel Activity Regulation Of Smoothened Signaling Pathway Smoothened Signaling Pathway Involved In Regulation Of Secondary Heart Field Cardioblast Proliferation Kinase Binding Regulation Of Lysosomal Membrane Permeability Negative Regulation Of Toll-like Receptor 3 Signaling Pathway Organelle Assembly Common Bile Duct Development Cell Surface Receptor Signaling Pathway Involved In Heart Development Centriole Negative Regulation Of Lysosomal Protein Catabolic Process Multivesicular Body, Internal Vesicle Negative Regulation Of Transforming Growth Factor Beta1 Production Membrane Tubulation Aggrephagy Regulation Of Toll-like Receptor 3 Signaling Pathway Cellular Component Assembly MKS Complex Cilium Organization Ciliary Basal Body Cilium Assembly Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway Ceramide Binding Regulation Of Lysosome Organization Lysosomal Membrane Organization Phosphatidylinositol Bisphosphate Binding Regulation Of Lysosomal Protein Catabolic Process Negative Regulation Of Transforming Growth Factor Beta Production Sperm Annulus Mitochondrial Crista	Diencephalon Morphogenesis Metencephalon Development Negative Regulation Of Centrosome Duplication MKS Complex Filamin Binding
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?