MMADHC and TBC1D7

Data Source:
BioGRID (two hybrid)

		MMADHC	TBC1D7
Description		metabolism of cobalamin associated D	TBC1 domain family member 7
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GO Annotations	Cellular Component	Cytoplasm Mitochondrion Cytosol	Cytosol Cytoplasmic Vesicle Ciliary Basal Body
	Molecular Function	Protein Binding	GTPase Activator Activity Protein Binding Small GTPase Binding
	Biological Process	Cobalamin Metabolic Process	Positive Regulation Of Protein Ubiquitination Negative Regulation Of TOR Signaling Positive Regulation Of GTPase Activity Response To Growth Factor Activation Of GTPase Activity Negative Regulation Of Cilium Assembly
Pathways		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD	TBC/RABGAPs
Drugs
Diseases		Methylmalonic aciduria (MMA)
GWAS		Daytime sleep phenotypes ( 27126917) Liver enzyme levels (alanine transaminase) ( 24124411) Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect) ( 32047095)	Migraine ( 23793025) Migraine without aura ( 23793025)
Interacting Genes		6 interacting genes: CINP CREB5 MMACHC POU4F2 PRNP TBC1D7	30 interacting genes: AKT1 ALOX5 APP BAG4 BLZF1 GABARAPL1 HOOK1 IKBKG INCA1 KEAP1 KRT19 KRT35 LDOC1 LNX2 LZTS1 LZTS2 MAP1LC3A MIPOL1 MMADHC NEDD4 NEDD4L PICK1 RPGRIP1 SH3GLB2 SSNA1 TRAF4 TRIM62 TSC1 XPA YWHAZ
Entrez ID		27249	51256
HPRD ID		10781	18165
Ensembl ID		ENSG00000168288	ENSG00000145979
Uniprot IDs		Q9H3L0	A0A024QZX0 A0A024R011 Q5JPB9 Q9P0N9 U3KPY5
PDB IDs		5CUZ 5CV0 6X8Z	3QWL 4Z6Y 5EJC 5ULO
Enriched GO Terms of Interacting Partners?
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