NPHP3 and NAA50

		NPHP3	NAA50
Description		nephrocystin 3	N-alpha-acetyltransferase 50, NatE catalytic subunit
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GO Annotations	Cellular Component	Extracellular Region Cytosol Cilium Cell Projection Ciliary Inversin Compartment Ciliary Base	Nucleus Nucleolus Cytoplasm Cytosol NatA Complex Extracellular Exosome
	Molecular Function	Protein Binding	Protein-N-terminal Amino-acid Acetyltransferase Activity Protein Binding Histone H4 Acetyltransferase Activity Transferase Activity Acyltransferase Activity Acyltransferase Activity, Transferring Groups Other Than Amino-acyl Groups Protein-lysine-acetyltransferase Activity Protein N-terminal-methionine Acetyltransferase Activity
	Biological Process	Kidney Development Heart Looping Atrial Septum Development Lipid Metabolic Process Establishment Or Maintenance Of Cell Polarity Determination Of Left/right Symmetry Wnt Signaling Pathway Extracellular Matrix Organization Lung Development Determination Of Pancreatic Left/right Asymmetry Photoreceptor Cell Maintenance Maintenance Of Animal Organ Identity Convergent Extension Convergent Extension Involved In Gastrulation Cilium Assembly Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry Kidney Morphogenesis Determination Of Intestine Left/right Asymmetry Determination Of Stomach Left/right Asymmetry Determination Of Liver Left/right Asymmetry Ureter Development Negative Regulation Of Canonical Wnt Signaling Pathway Non-motile Cilium Assembly Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway	Chromatin Remodeling N-terminal Protein Amino Acid Acetylation Mitotic Sister Chromatid Cohesion Establishment Of Mitotic Sister Chromatid Cohesion Post-translational Protein Modification Mitotic Sister Chromatid Cohesion, Centromeric
Pathways		Trafficking of myristoylated proteins to the cilium
Drugs
Diseases		Renal-hepatic-pancreatic dysplasia 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) Senior-Loken syndrome
GWAS		Brain morphology (min-P) ( 32665545) Brain morphology (MOSTest) ( 32665545) Cortical surface area (MOSTest) ( 32665545) Mean corpuscular hemoglobin ( 27863252) Mean corpuscular volume ( 27863252) Menarche (age at onset) ( 21102462 27182965) Serum alkaline phosphatase levels ( 33547301) Subcortical volume (MOSTest) ( 32665545)	Prostate cancer ( 23535732)
Interacting Genes		3 interacting genes: ATXN1 DYSF NPHP1	6 interacting genes: BHLHE40 CEBPA JMJD6 NAA10 NAA15 OTX2
Entrez ID		27031	80218
HPRD ID		06417	14350
Ensembl ID		ENSG00000113971	ENSG00000121579
Uniprot IDs		Q7Z494	E7EQ69 Q9GZZ1
PDB IDs		5L7K	2OB0 2PSW 3TFY 4X5K 6PPL 6PW9 6WF3 6WF5 6WFG 6WFK 6WFN 6WFO 9F1B 9F1C 9F1D
Enriched GO Terms of Interacting Partners?		Double-strand Break Repair Via Nonhomologous End Joining	NatA Complex Lung Development N-terminal Protein Amino Acid Acetylation Acetyltransferase Activity Protein Acetylation RNA Polymerase I Transcription Regulatory Region Sequence-specific DNA Binding Negative Regulation Of Maintenance Of Mitotic Sister Chromatid Cohesion, Centromeric Ribosome Binding Histone H4R3 Demethylase Activity Peptidyl-lysine Hydroxylation To 5-hydroxy-L-lysine Peptidyl-lysine 5-dioxygenase Activity Histone H3R2 Demethylase Activity Oxidative RNA Demethylation Determination Of Stomach Left/right Asymmetry Determination Of Intestine Left/right Asymmetry Response To Vitamin B2 C/EBP Complex Protein-N-terminal-alanine Acetyltransferase Activity Protein-N-terminal-glutamate Acetyltransferase Activity CHOP-C/EBP Complex Protein N-terminal-serine Acetyltransferase Activity Negative Regulation Of Protein Homooligomerization Ciliary Inversin Compartment White Fat Cell Proliferation Oxidative RNA Demethylase Activity Protein Demethylase Activity P-TEFb Complex Binding Negative Regulation Of Protein Oligomerization Maintenance Of Animal Organ Identity DNA-binding Transcription Factor Activity Negative Regulation Of Hematopoietic Stem Cell Proliferation Rb-E2F Complex Regulation Of Centromeric Sister Chromatid Cohesion Negative Regulation Of Sister Chromatid Cohesion MRF Binding Kidney Development Determination Of Pancreatic Left/right Asymmetry Positive Regulation Of RNA Biosynthetic Process Positive Regulation Of DNA-templated Transcription Protein-N-terminal Amino-acid Acetyltransferase Activity Recognition Of Apoptotic Cell Convergent Extension Involved In Gastrulation Determination Of Liver Left/right Asymmetry RNA Polymerase II-specific DNA-binding Transcription Factor Binding Regulation Of DNA-templated Transcription Response To Phenylpropanoid Regulation Of RNA Biosynthetic Process Fat Cell Proliferation Eukaryotic Initiation Factor 4E Binding Anatomical Structure Formation Involved In Morphogenesis
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