AK8 (adenylate kinase 8)

Gene

• Entrez ID: 158067
• Gene name: Adenylate kinase 8
• Gene symbol: AK8
• Synonyms: AK 8, C9orf98, DDX31
• Chromosome: 9
• Chromosome location: 9q34.13

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004017	Function	Adenylate kinase activity	IBA	21873635
GO:0004017	Function	Adenylate kinase activity	IDA	21080915
GO:0004127	Function	Cytidylate kinase activity	IBA	21873635
GO:0004127	Function	Cytidylate kinase activity	IDA	21080915
GO:0004550	Function	Nucleoside diphosphate kinase activity	IBA	21873635
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	23416111
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005930	Component	Axoneme	IEA
GO:0006165	Process	Nucleoside diphosphate phosphorylation	IBA	21873635
GO:0006165	Process	Nucleoside diphosphate phosphorylation	IDA	23416111
GO:0009142	Process	Nucleoside triphosphate biosynthetic process	IBA	21873635
GO:0009142	Process	Nucleoside triphosphate biosynthetic process	IDA	23416111
GO:0015949	Process	Nucleobase-containing small molecule interconversion	TAS
GO:0021591	Process	Ventricular system development	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA

Other IDs

• MIM: 615365
• HGNC: 26526
• e!Ensembl: ENSG00000165695

Protein

• UniProt ID: Q96MA6
• Protein name: Adenylate kinase 8 (AK 8) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 8)
• Protein function: Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Als
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00406	ADK	62 → 237		Domain
  PF00406	ADK	273 → 451		Domain

• Sequence:

  MDATIAPHRIPPEMPQYGEENHIFELMQNMLEQLLIHQPEDPIPFMIQHLHRDNDNVPRI
  VILGPPASGKTTIAMWLCKHLNSSLLTLENLILNEFSYTATEARRLYLQRKTVPSALLVQ
  LIQERLAEEDCIKQGWILDGIPETREQALRIQTLGITPRHVIVLSAPDTVLIERNLGKRI
  DPQTGEIYHTTFDWPPESEIQNRLMVPEDISELETAQKLLEYHRNIVRVIPSYPKILKVI
  SADQPCVDVFYQALTYVQSNHRTNAPFTPRVLLLGPVGSGKSLQAALLAQKYRLVNVCCG
  QLLKEAVADRTTFGELIQPFFEKEMAVPDSLLMKVLSQRLDQQDCIQKGWVLHGVPRDLD
  QAHLLNRLGYNPNRVFFLNVPFDSIMERLTLRRIDPVTGERYHLMYKPPPTMEIQARLLQ
  NPKDAEEQVKLKMDLFYRNSADLEQLYGSAITLNGDQDPYTVFEYIESGIINPLPKKIP

• Sequence length: 479

Pathways

KEGG:

Purine metabolism
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors

Reactome:

Interconversion of nucleotide di- and triphosphates

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019	18839057