AK8 (adenylate kinase 8)

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Gene Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

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

Gene ontology (GO) Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004017	Function	AMP kinase activity	IBA
GO:0004017	Function	AMP kinase activity	IDA	21080915
GO:0004017	Function	AMP kinase activity	IEA
GO:0004550	Function	Nucleoside diphosphate kinase activity	IDA	23416111
GO:0004550	Function	Nucleoside diphosphate kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 32814053, 33139725
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005930	Component	Axoneme	IEA
GO:0006139	Process	Nucleobase-containing compound metabolic process	IEA
GO:0009117	Process	Nucleotide metabolic process	IEA
GO:0009123	Process	Nucleoside monophosphate metabolic process	IEA
GO:0016208	Function	AMP binding	IDA	33139725
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016776	Function	Phosphotransferase activity, phosphate group as acceptor	IEA
GO:0019205	Function	Nucleobase-containing compound kinase activity	IEA
GO:0021591	Process	Ventricular system development	IEA
GO:0036126	Component	Sperm flagellum	IEA
GO:0036431	Function	DCMP kinase activity	IDA	21080915
GO:0042995	Component	Cell projection	IEA
GO:0046940	Process	Nucleoside monophosphate phosphorylation	IEA
GO:0097729	Component	9+2 motile cilium	IDA	33139725
GO:0097729	Component	9+2 motile cilium	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	273 → 451		Domain
  PF00406	ADK	62 → 237		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in respiratory cells (at protein level). {ECO:0000269|PubMed:33139725}.
• Sequence:

  MDATIAPHRIPPEMPQYGEENHIFELMQNMLEQLLIHQPEDPIPFMIQHLHRDNDNVPRI
  VILGPPASGKTTIAMWLCKHLNSSLLTLENLILNEFSYTATEARRLYLQRKTVPSALLVQ
  LIQERLAEEDCIKQGWILDGIPETREQALRIQTLGITPRHVIVLSAPDTVLIERNLGKRI
  DPQTGEIYHTTFDWPPESEIQNRLMVPEDISELETAQKLLEYHRNIVRVIPSYPKILKVI
  SADQPCVDVFYQALTYVQSNHRTNAPFTPRVLLLGPVGSGKSLQAALLAQKYRLVNVCCG
  QLLKEAVADRTTFGELIQPFFEKEMAVPDSLLMKVLSQRLDQQDCIQKGWVLHGVPRDLD
  QAHLLNRLGYNPNRVFFLNVPFDSIMERLTLRRIDPVTGERYHLMYKPPPTMEIQARLLQ
  NPKDAEEQVKLKMDLFYRNSADLEQLYGSAITLNGDQDPYTVFEYIESGIINPLPKKIP

• Sequence length: 479

Pathways

KEGG Pathway	Reactome Pathway
Purine metabolism	Interconversion of nucleotide di- and triphosphates
Thiamine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors

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 Show/Hide Unknown Diseases (7)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	18839057	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASM	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	23377640	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	38538606	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Medulloblastoma	Medulloblastoma	BEFREE	24608801		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	18839057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	18839057		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29440146		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29440146		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24608801		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23019224		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	36241908	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29440146		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29440146		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24608801		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23019224		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

AK7 5 shared pathwaysPurine metabolism, Thiamine metabolism, Nucleotide metabolism, Biosynthesis of cofactors, Interconversion of nucleotide di- and triphosphates Related via 5 shared pathways including Purine metabolism, Thiamine metabolism. AK1 5 shared pathwaysPurine metabolism, Thiamine metabolism, Nucleotide metabolism, Biosynthesis of cofactors, Interconversion of nucleotide di- and triphosphates Related via 5 shared pathways including Purine metabolism, Thiamine metabolism. AK2 5 shared pathwaysPurine metabolism, Thiamine metabolism, Nucleotide metabolism, Biosynthesis of cofactors, Interconversion of nucleotide di- and triphosphates Related via 5 shared pathways including Purine metabolism, Thiamine metabolism. AK4 5 shared pathwaysPurine metabolism, Thiamine metabolism, Nucleotide metabolism, Biosynthesis of cofactors, Interconversion of nucleotide di- and triphosphates Related via 5 shared pathways including Purine metabolism, Thiamine metabolism. AK5 5 shared pathwaysPurine metabolism, Thiamine metabolism, Nucleotide metabolism, Biosynthesis of cofactors, Interconversion of nucleotide di- and triphosphates Related via 5 shared pathways including Purine metabolism, Thiamine metabolism.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
AK7	0	[]	5	["Purine metabolism","Thiamine metabolism","Nucleotide metabolism","Biosynthesis of cofactors","Interconversion of nucleotide di- and triphosphates"]	0	[]
AK1	0	[]	5	["Purine metabolism","Thiamine metabolism","Nucleotide metabolism","Biosynthesis of cofactors","Interconversion of nucleotide di- and triphosphates"]	0	[]
AK2	0	[]	5	["Purine metabolism","Thiamine metabolism","Nucleotide metabolism","Biosynthesis of cofactors","Interconversion of nucleotide di- and triphosphates"]	0	[]
AK4	0	[]	5	["Purine metabolism","Thiamine metabolism","Nucleotide metabolism","Biosynthesis of cofactors","Interconversion of nucleotide di- and triphosphates"]	0	[]
AK5	0	[]	5	["Purine metabolism","Thiamine metabolism","Nucleotide metabolism","Biosynthesis of cofactors","Interconversion of nucleotide di- and triphosphates"]	0	[]

Diseases Linked via Similar Genes

Diabetes mellitus type 2 Linked via 3 of 5 related genesAK1, AK4, AK5 Metabolic syndrome Linked via 2 of 5 related genesAK1, AK5 Ciliary dyskinesia Linked via 1 of 5 related genesAK7 Congenital impairment of spermatozoa motility Linked via 1 of 5 related genesAK7 Spermatogenic failure Linked via 1 of 5 related genesAK7

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Diabetes mellitus type 2	3	["AK1","AK4","AK5"]
Metabolic syndrome	2	["AK1","AK5"]
Ciliary dyskinesia	1	["AK7"]
Congenital impairment of spermatozoa motility	1	["AK7"]
Spermatogenic failure	1	["AK7"]