MMADHC and CREB5

Data Source:
BioGRID (two hybrid)

		MMADHC	CREB5
Description		metabolism of cobalamin associated D	cAMP responsive element binding protein 5
Image			No pdb structure
GO Annotations	Cellular Component	Cytoplasm Mitochondrion Cytosol	Chromatin Nucleus Extracellular Exosome
	Molecular Function	Protein Binding	RNA Polymerase II Cis-regulatory Region Sequence-specific DNA Binding DNA-binding Transcription Factor Activity, RNA Polymerase II-specific DNA-binding Transcription Factor Activity Protein Binding CAMP Response Element Binding Metal Ion Binding Sequence-specific Double-stranded DNA Binding
	Biological Process	Cobalamin Metabolic Process	Regulation Of Transcription By RNA Polymerase II Positive Regulation Of Transcription, DNA-templated
Pathways		Cobalamin (Cbl, vitamin B12) transport and metabolism Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
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)	Adolescent idiopathic scoliosis ( 31417091) Age-related cognitive decline (global cognition) (slope of z-scores) ( 30954325) Age-related cognitive decline (memory) (slope of z-scores) ( 30954325) Airflow obstruction ( 22837378) Alanine aminotransferase levels in non-alcoholic fatty liver disease ( 31311600) Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals ( 22959728) Anxiety in major depressive disorder ( 24047446) Asthma ( 31959851) Asthma (childhood onset) ( 31036433) Atrial fibrillation ( 30061737 29892015) Attention deficit hyperactivity disorder ( 18839057) Basophil count ( 32888494) Basophil percentage of white cells ( 32888494) Blond vs. brown/black hair color ( 30531825) Breast cancer ( 29059683) Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) ( 31372216) Crohn's disease ( 23128233) Diabetic retinopathy ( 21441570) Emphysema annual change measurement in smokers (percent low attenuation area) ( 31324189) Eosinophil percentage of granulocytes ( 27863252) Granulocyte count ( 27863252) Granulocyte percentage of myeloid white cells ( 27863252) Hand grip strength ( 29691431) Heel bone mineral density ( 30598549 28869591) Height ( 28552196) Lymphocyte percentage of white cells ( 32888494 27863252) Monocyte percentage of white cells ( 32888494 27863252) Myeloid white cell count ( 27863252) Neutrophil count ( 29403010 32888494 27863252) Neutrophil percentage of granulocytes ( 27863252) Neutrophil percentage of white cells ( 32888494 27863252) Peginterferon alfa-2a treatment response in chronic hepatitis B infection ( 30972912) Pre-treatment viral load in HIV-1 infection ( 31219150) Pulse pressure ( 27841878 30578418) Serum thyroid-stimulating hormone levels ( 25436638) Smoking behaviour (cigarettes smoked per day) ( 31217584) Sum basophil neutrophil counts ( 27863252) Sum neutrophil eosinophil counts ( 27863252) TPE interval (resting) ( 32386560) Vertical cup-disc ratio (adjusted for vertical disc diameter) ( 31959993) Vertical cup-disc ratio (multi-trait analysis) ( 31959993) White blood cell count ( 29403010 32888494 27863252) White blood cell count (basophil) ( 27863252)
Interacting Genes		6 interacting genes: CINP CREB5 MMACHC POU4F2 PRNP TBC1D7	132 interacting genes: ADAMTSL4 AJUBA AKAP8L ALPP ANAPC11 ATF2 BATF3 CDPF1 CERCAM CIB4 CNFN COL8A1 CYP21A2 CYSRT1 EFEMP2 FBLN1 FHL3 FOS FOSB FOSL1 FOSL2 FRS3 FST HOXA1 HSD3B7 ID3 IGFBP6 INTS11 JDP2 JUN KIFC3 KPRP KRT15 KRT31 KRT40 KRT83 KRT85 KRT86 KRTAP1-3 KRTAP1-5 KRTAP10-1 KRTAP10-10 KRTAP10-11 KRTAP10-3 KRTAP10-5 KRTAP10-7 KRTAP10-8 KRTAP10-9 KRTAP12-3 KRTAP19-2 KRTAP19-3 KRTAP19-5 KRTAP19-6 KRTAP2-3 KRTAP2-4 KRTAP22-1 KRTAP3-1 KRTAP3-2 KRTAP4-1 KRTAP4-12 KRTAP4-2 KRTAP4-4 KRTAP4-5 KRTAP5-11 KRTAP5-2 KRTAP5-4 KRTAP5-6 KRTAP5-7 KRTAP5-9 KRTAP6-1 KRTAP6-2 KRTAP6-3 KRTAP7-1 KRTAP8-1 KRTAP9-2 KRTAP9-3 KRTAP9-4 KRTAP9-8 LCE1C LCE2A LCE2C LCE4A LCE5A LGALS13 LITAF LMX1B MDFI MGAT5B MLLT6 MMADHC MTUS2 NADSYN1 NBPF19 NOTCH2NLA PCSK5 PLA2G10 PRDM14 PRR22 RBCK1 RBP3 RBPMS RCHY1 RGS17 RGS20 RIMBP3 RNF144B RNF208 SIVA1 SNAPC5 SPATA12 SPOP SPOPL SPRED1 SPRY1 SPRY2 SPRY3 SPRY4 SSC4D TP53BP1 TRAF2 TRIM23 TRIM27 TRIM42 TRIP6 TSGA10 TSPAN4 TSR2 UFSP1 UNKL WWOX ZMAT5 ZNF330
Entrez ID		27249	9586
HPRD ID		10781	09896
Ensembl ID		ENSG00000168288	ENSG00000146592
Uniprot IDs		Q9H3L0	Q02930
PDB IDs		5CUZ 5CV0 6X8Z
Enriched GO Terms of Interacting Partners?
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