• Gene id: 158067

Gene Summary

• Gene Symbol: AK8   Gene   UCSC   Ensembl
• Aliases: AK 8, C9orf98, DDX31
• Gene name: adenylate kinase 8
• Alternate names: adenylate kinase 8, ATP-AMP transphosphorylase 8, putative adenylate kinase-like protein C9orf98,
• Gene location: 9q34.13 (132879045: 132725573)     Exons: 18     NC_000009.12
• OMIM: 615365

Protein Summary

• Protein general information: Q96MA6  
  • Name: Adenylate kinase 8 (AK 8) (EC 2.7.4.3) (EC 2.7.4.6) (ATP AMP transphosphorylase 8)
  • Length: 479  
  • Mass: 54926
• Sequence:

  MDATIAPHRIPPEMPQYGEENHIFELMQNMLEQLLIHQPEDPIPFMIQHLHRDNDNVPRIVILGPPASGKTTIAM
  WLCKHLNSSLLTLENLILNEFSYTATEARRLYLQRKTVPSALLVQLIQERLAEEDCIKQGWILDGIPETREQALR
  IQTLGITPRHVIVLSAPDTVLIERNLGKRIDPQTGEIYHTTFDWPPESEIQNRLMVPEDISELETAQKLLEYHRN
  IVRVIPSYPKILKVISADQPCVDVFYQALTYVQSNHRTNAPFTPRVLLLGPVGSGKSLQAALLAQKYRLVNVCCG
  QLLKEAVADRTTFGELIQPFFEKEMAVPDSLLMKVLSQRLDQQDCIQKGWVLHGVPRDLDQAHLLNRLGYNPNRV
  FFLNVPFDSIMERLTLRRIDPVTGERYHLMYKPPPTMEIQARLLQNPKDAEEQVKLKMDLFYRNSADLEQLYGSA
  ITLNGDQDPYTVFEYIESGIINPLPKKIP

• Structural information:
  • Interpro: IPR000850  IPR036193  IPR027417  
  • CDD: cd01428
  • STRING: ENSP00000298545
• Other Databases: GeneCards:  AK8  Malacards:  AK8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004017	adenylate kinase activity	IBA	molecular function
GO:0004127	cytidylate kinase activity	IBA	molecular function
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006165	nucleoside diphosphate phosphorylation	IBA	biological process
GO:0009142	nucleoside triphosphate biosynthetic process	IBA	biological process
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0004127	cytidylate kinase activity	IDA	molecular function
GO:0004017	adenylate kinase activity	IDA	molecular function
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0019205	nucleobase-containing compound kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0004550	nucleoside diphosphate kinase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005930	axoneme	IEA	cellular component
GO:0036126	sperm flagellum	IEA	cellular component
GO:0021591	ventricular system development	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0009142	nucleoside triphosphate biosynthetic process	IDA	biological process
GO:0006165	nucleoside diphosphate phosphorylation	IDA	biological process
GO:0004550	nucleoside diphosphate kinase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00730	Thiamine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R