AK5 (adenylate kinase 5)

Gene

• Entrez ID: 26289
• Gene name: Adenylate kinase 5
• Gene symbol: AK5
• Synonyms (NCBI Gene): AK6
• Chromosome: 1
• Chromosome location: 1p31.1
• Summary: This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT775146	hsa-miR-1273g	CLIP-seq
MIRT775147	hsa-miR-2114	CLIP-seq
MIRT775148	hsa-miR-323-5p	CLIP-seq
MIRT775149	hsa-miR-3689d	CLIP-seq
MIRT775150	hsa-miR-3911	CLIP-seq
MIRT775151	hsa-miR-4266	CLIP-seq
MIRT775152	hsa-miR-4434	CLIP-seq
MIRT775153	hsa-miR-4447	CLIP-seq
MIRT775154	hsa-miR-4472	CLIP-seq
MIRT775155	hsa-miR-4488	CLIP-seq
MIRT775156	hsa-miR-4516	CLIP-seq
MIRT775157	hsa-miR-4531	CLIP-seq
MIRT775158	hsa-miR-4695-5p	CLIP-seq
MIRT775159	hsa-miR-4697-5p	CLIP-seq
MIRT775160	hsa-miR-4779	CLIP-seq
MIRT775161	hsa-miR-541	CLIP-seq
MIRT775162	hsa-miR-651	CLIP-seq
MIRT775163	hsa-miR-654-5p	CLIP-seq
MIRT775164	hsa-miR-876-3p	CLIP-seq
MIRT775165	hsa-miR-144	CLIP-seq
MIRT775166	hsa-miR-3123	CLIP-seq
MIRT775167	hsa-miR-329	CLIP-seq
MIRT775168	hsa-miR-362-3p	CLIP-seq
MIRT775169	hsa-miR-3691-3p	CLIP-seq
MIRT775170	hsa-miR-3925-5p	CLIP-seq
MIRT775171	hsa-miR-3976	CLIP-seq
MIRT775172	hsa-miR-4645-3p	CLIP-seq
MIRT775173	hsa-miR-4662a-5p	CLIP-seq
MIRT775174	hsa-miR-495	CLIP-seq
MIRT2443428	hsa-miR-1231	CLIP-seq
MIRT2443429	hsa-miR-3616-5p	CLIP-seq
MIRT2443430	hsa-miR-3647-5p	CLIP-seq
MIRT775150	hsa-miR-3911	CLIP-seq
MIRT2443431	hsa-miR-4288	CLIP-seq
MIRT775152	hsa-miR-4434	CLIP-seq
MIRT775156	hsa-miR-4516	CLIP-seq
MIRT775157	hsa-miR-4531	CLIP-seq
MIRT2443432	hsa-miR-4795-5p	CLIP-seq
MIRT2443433	hsa-miR-573	CLIP-seq
MIRT2443434	hsa-miR-595	CLIP-seq
MIRT2443435	hsa-miR-632	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004017	Function	AMP kinase activity	IEA
GO:0004017	Function	AMP kinase activity	TAS	10215863
GO:0004550	Function	Nucleoside diphosphate kinase activity	IBA
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	23416111
GO:0004550	Function	Nucleoside diphosphate kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS	10215863
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0006172	Process	ADP biosynthetic process	TAS	10215863
GO:0006173	Process	DADP biosynthetic process	TAS	10215863
GO:0009220	Process	Pyrimidine ribonucleotide biosynthetic process	TAS	10215863
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019205	Function	Nucleobase-containing compound kinase activity	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA

Other IDs

• MIM: 608009
• HGNC: 365
• e!Ensembl: ENSG00000154027

Protein

• UniProt ID: Q9Y6K8
• Protein name: Adenylate kinase isoenzyme 5 (AK 5) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 5)
• Protein function: Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Active on AMP and dAMP with ATP as a donor. When GTP is used as phosphate donor, th
• PDB: 2BWJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00406	ADK	137 → 294		Domain
  PF00406	ADK	381 → 537		Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain specific. {ECO:0000269|PubMed:10215863}.
• Sequence:

  MNTNDAKEYLARREIPQLFESLLNGLMCSKPEDPVEYLESCLQKVKELGGCDKVKWDTFV
  SQEKKTLPPLNGGQSRRSFLRNVMPENSNFPYRRYDRLPPIHQFSIESDTDLSETAELIE
  EYEVFDPTRPRPKIILVIGGPGSGKGTQSLKIAERYGFQYISVGELLRKKIHSTSSNRKW
  SLIAKIITTGELAPQETTITEIKQKLMQIPDEEGIVIDGFPRDVAQALSFEDQICTPDLV
  VFLACANQRLKERLLKRAEQQGRPDDNVKATQRRLMNFKQNAAPLVKYFQEKGLIMTFDA
  DRDEDEVFYDISMAVDNKLFPNKEAAAGSSDLDPSMILDTGEIIDTGSDYEDQGDDQLNV
  FGEDTMGGFMEDLRKCKIIFIIGGPGSGKGTQCEKLVEKYGFTHLSTGELLREELASESE
  RSKLIRDIMERGDLVPSGIVLELLKEAMVASLGDTRGFLIDGYPREVKQGEEFGRRIGDP
  QLVICMDCSADTMTNRLLQRSRSSLPVDDTTKTIAKRLEAYYRASIPVIAYYETKTQLHK
  INAEGTPEDVFLQLCTAIDSIF

• Sequence length: 562

Pathways

KEGG:

Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors

Reactome:

Interconversion of nucleotide di- and triphosphates

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL VESSEL STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25311278	Associate	★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	Pubtator	33843981	Associate	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	33843981	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	28505210	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	34135408	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34135408	Associate	★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	33843981	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	33843981	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40715243	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	31059043	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	21556322	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33843981	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31799658	Associate	★☆☆☆☆ Found in Text Mining only