NMNAT1

Gene Name		nicotinamide nucleotide adenylyltransferase 1
Image
Gene Ontology Annotations	Cellular Component	Nucleus Nucleoplasm
	Molecular Function	Nicotinamide-nucleotide Adenylyltransferase Activity Nicotinate-nucleotide Adenylyltransferase Activity Protein Binding ATP Binding
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process NAD Biosynthetic Process NAD Metabolic Process Small Molecule Metabolic Process
Pathways		Metabolism of vitamins and cofactors Defective GIF causes intrinsic factor deficiency Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MTR causes methylmalonic aciduria and homocystinuria type cblG Defective MMAA causes methylmalonic aciduria type cblA Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Defective CUBN causes hereditary megaloblastic anemia 1 Defective AMN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Nicotinate metabolism Defects in vitamin and cofactor metabolism Defects in cobalamin (B12) metabolism
Drugs		Nicotinamide-Adenine-Dinucleotide Nicotinamide Mononucleotide Deamido-Nad+
Diseases
GWAS
Protein-protein Interactions		10 interactors: APP CCNC FLOT2 KPNA2 MSX1 NEK3 NTRK2 SIK1 SIRT1 TDO2
Entrez ID		64802
HPRD ID		16369
Ensembl ID		ENSG00000173614
Uniprot IDs		B1AN62 Q9HAN9
PDB IDs		1GZU 1KKU 1KQN 1KQO 1KR2
Enriched GO Terms of Interacting Partners?		Regulation Of Cell Cycle Regulation Of Protein Stability Response To Radiation Regulation Of Anoikis Posttranscriptional Regulation Of Gene Expression Regulation Of Intrinsic Apoptotic Signaling Pathway By P53 Class Mediator Regulation Of Cellular Ketone Metabolic Process Regulation Of DNA Damage Response, Signal Transduction By P53 Class Mediator Negative Regulation Of Lipid Biosynthetic Process Regulation Of Signal Transduction By P53 Class Mediator Positive Regulation Of Gene Expression Neuromuscular Junction Development Rhythmic Process Regulation Of Cell Differentiation Positive Regulation Of Cellular Biosynthetic Process Response To Light Stimulus Cardiovascular System Development Positive Regulation Of Response To DNA Damage Stimulus Establishment Of Chromatin Silencing Negative Regulation Of Cellular Response To Testosterone Stimulus Negative Regulation Of Prostaglandin Biosynthetic Process Negative Regulation Of Lipid Metabolic Process Regulation Of Cellular Amino Acid Metabolic Process Cellular Response To Organic Substance Regulation Of Mitotic Cell Cycle Positive Regulation Of Transcription From RNA Polymerase II Promoter Protein Stabilization Regulation Of Protein Phosphorylation Forebrain Development Response To Abiotic Stimulus Feeding Behavior Regulation Of Striated Muscle Cell Differentiation Cellular Response To Tumor Necrosis Factor Negative Regulation Of Triglyceride Biosynthetic Process Synaptic Growth At Neuromuscular Junction Behavioral Response To Starvation Tryptophan Catabolic Process To Acetyl-CoA Regulation Of Glucose Metabolic Process Regulation Of Gene Expression Muscle Structure Development Regulation Of Protein Metabolic Process Regulation Of Nitrogen Compound Metabolic Process Negative Regulation Of Sequence-specific DNA Binding Transcription Factor Activity Regulation Of Protein Kinase B Signaling Negative Regulation Of CREB Transcription Factor Activity Maintenance Of Chromatin Silencing Negative Regulation Of Helicase Activity Regulation Of Endodeoxyribonuclease Activity Positive Regulation Of Chromatin Silencing Collateral Sprouting In Absence Of Injury
Tagcloud ?		adenylyltransferase amaurosis atrophy autosomal caucasian cone crd dystrophies dystrophy e257k encompassed harbors heterozygous inherited insignificant lca leber macular modifier nicotinamide persons pigmentosa recessive retinitis rod rp sanger truncating variants