• Gene id: 132

Gene Summary

• Gene Symbol: ADK   Gene   UCSC   Ensembl
• Aliases: AK
• Gene name: adenosine kinase
• Alternate names: adenosine kinase, adenosine 5'-phosphotransferase, testicular tissue protein Li 14,
• Gene location: 10q11-q24 (74151184: 74709302)     Exons: 16     NC_000010.11
• Gene summary(Entrez): This gene an enzyme which catalyzes the transfer of the gamma-phosphate from ATP to adenosine, thereby serving as a regulator of concentrations of both extracellular adenosine and intracellular adenine nucleotides. Adenosine has widespread effects on the
• OMIM: 102750

SNPs

rs17747401

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.74640406C>T
NC_000010.10   g.76400164C>T
NG_030484.2   g.494222C>T
NG_030484.1   g.494222C>T|SEQ=[C/T]|GENE=ADK

rs3212293

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

Protein Summary

• Protein general information: P55263  
  • Name: Adenosine kinase (AK) (EC 2.7.1.20) (Adenosine 5' phosphotransferase)
  • Length: 362  
  • Mass: 40545
  • Tissue specificity: Widely expressed. Highest level in placenta, liver, muscle and kidney.
• Sequence:

  MAAAEEEPKPKKLKVEAPQALRENILFGMGNPLLDISAVVDKDFLDKYSLKPNDQILAEDKHKELFDELVKKFKV
  EYHAGGSTQNSIKVAQWMIQQPHKAATFFGCIGIDKFGEILKRKAAEAHVDAHYYEQNEQPTGTCAACITGDNRS
  LIANLAAANCYKKEKHLDLEKNWMLVEKARVCYIAGFFLTVSPESVLKVAHHASENNRIFTLNLSAPFISQFYKE
  SLMKVMPYVDILFGNETEAATFAREQGFETKDIKEIAKKTQALPKMNSKRQRIVIFTQGRDDTIMATESEVTAFA
  VLDQDQKEIIDTNGAGDAFVGGFLSQLVSDKPLTECIRAGHYAASIIIRRTGCTFPEKPDFH

• Structural information:
  • Interpro: IPR001805  IPR002173  IPR011611  IPR029056  
  • Prosite: PS00584
  • PDB: 1BX4 2I6A 2I6B 4O1L
  • PDBsum: 1BX4 2I6A 2I6B 4O1L
  • STRING: ENSP00000286621
• Other Databases: GeneCards:  ADK  Malacards:  ADK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0004001	adenosine kinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0004001	adenosine kinase activity	IEA	molecular function
GO:0016773	phosphotransferase activity, alcohol group as acceptor	IEA	molecular function
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004001	adenosine kinase activity	TAS	molecular function
GO:0009156	ribonucleoside monophosphate biosynthetic process	TAS	biological process
GO:0004001	adenosine kinase activity	IEA	molecular function
GO:0043101	purine-containing compound salvage	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0006166	purine ribonucleoside salvage	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0006175	dATP biosynthetic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004001	adenosine kinase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0044209	AMP salvage	IEA	biological process
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Hypermethioninemia	KEGG:H00184
Hypermethioninemia	KEGG:H00184
Temporal lobe epilepsy	PMID:21635241
Cryptorchidism	MIK: 28606200
Hypospadias	MIK: 25108383
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25108383	Hypospadias	rs17747401d		1,006 boys who underwent surgery for hypospadias and 5,486 individuals (2,390 males and 3,096 females)	Male infertility	GWAS