AK1

Description		adenylate kinase 1
Image
GO Annotations	Cellular Component	Outer Dense Fiber Cytoplasm Cytosol Sperm Flagellum Extracellular Exosome
	Molecular Function	Nucleotide Binding AMP Kinase Activity Nucleoside Diphosphate Kinase Activity ATP Binding Kinase Activity Transferase Activity Nucleobase-containing Compound Kinase Activity DAMP Kinase Activity Nucleoside Monophosphate Kinase Activity
	Biological Process	Nucleobase-containing Compound Metabolic Process ADP Biosynthetic Process Nucleoside Triphosphate Biosynthetic Process Nucleobase-containing Small Molecule Interconversion AMP Metabolic Process ATP Metabolic Process Nucleoside Monophosphate Phosphorylation
Pathways		Interconversion of nucleotide di- and triphosphates
Drugs		Bis(Adenosine)-5'-Pentaphosphate
Diseases		Anemia due to disorders of nucleotide metabolism, including: Adenylate kinase (AK) deficiency; Uridine 5-prime monophosphate hydrolase (UMPH1) deficiency
GWAS		Blood protein levels ( 30072576) Body mass index ( 26426971) Hematocrit ( 27863252) Hemoglobin concentration ( 27863252) Hemoglobin levels ( 32327693) Red blood cell count ( 27863252 32888494)
Interacting Genes		5 interacting genes: FHL2 TERF1 TERF2IP TINF2 TRIM63
Entrez ID		203
HPRD ID		00046
Ensembl ID		ENSG00000106992
Uniprot IDs		P00568 Q5T9B7 Q6FGX9
PDB IDs		1Z83 2C95 7DE3 7X7S 8X1G
Enriched GO Terms of Interacting Partners?		Shelterin Complex Nuclear Telomere Cap Complex Telomere Capping Telomeric DNA Binding Negative Regulation Of Telomere Maintenance Positive Regulation Of Telomere Maintenance Negative Regulation Of Chromosome Organization Telomere Maintenance Positive Regulation Of Chromosome Organization Regulation Of Telomere Maintenance G-rich Strand Telomeric DNA Binding Telomere Organization Protein Localization To Chromosome, Telomeric Region Negative Regulation Of DNA Metabolic Process Negative Regulation Of Nucleobase-containing Compound Metabolic Process Chromosome, Telomeric Region Negative Regulation Of Telomere Maintenance Via Telomerase Telomere Maintenance Via Telomerase RNA-templated DNA Biosynthetic Process Telomere Maintenance Via Telomere Lengthening Regulation Of Chromosome Organization Negative Regulation Of DNA Biosynthetic Process Negative Regulation Of Telomere Maintenance Via Telomere Lengthening Positive Regulation Of DNA Metabolic Process Regulation Of Telomere Maintenance Via Telomerase Chromosome Organization Regulation Of Telomere Maintenance Via Telomere Lengthening Nuclear Body Negative Regulation Of Metabolic Process Regulation Of DNA Metabolic Process DNA Biosynthetic Process Negative Regulation Of Establishment Of Protein Localization To Telomere Negative Regulation Of Establishment Of Protein-containing Complex Localization To Telomere Negative Regulation Of Establishment Of RNA Localization To Telomere Regulation Of DNA Biosynthetic Process Positive Regulation Of Shelterin Complex Assembly Positive Regulation Of Organelle Organization Protein Localization To Chromosome Regulation Of Nucleobase-containing Compound Metabolic Process Atrial Cardiac Muscle Cell Development Z Disc Negative Regulation Of Telomeric D-loop Disassembly Negative Regulation Of Telomere Maintenance Via Semi-conservative Replication Chromosome Perinucleolar Chromocenter Negative Regulation Of DNA Recombination At Telomere Response To Electrical Stimulus Involved In Regulation Of Muscle Adaptation Negative Regulation Of Cellular Component Organization DNA Metabolic Process Negative Regulation Of Phosphate Metabolic Process
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