• Gene id: 203

Gene Summary

• Gene Symbol: AK1   Gene   UCSC   Ensembl
• Aliases: HTL-S-58j
• Gene name: adenylate kinase 1
• Alternate names: adenylate kinase isoenzyme 1, ATP-AMP transphosphorylase 1, ATP:AMP phosphotransferase, adenylate monophosphate kinase, epididymis secretory sperm binding protein, myokinase, testis secretory sperm binding protein Li 58j,
• Gene location: 9q34.11 (127885541: 127866479)     Exons: 17     NC_000009.12
• Gene summary(Entrez): This gene encodes an adenylate kinase enzyme involved in energy metabolism and homeostasis of cellular adenine nucleotide ratios in different intracellular compartments. This gene is highly expressed in skeletal muscle, brain and erythrocytes. Certain mut
• OMIM: 103000

Protein Summary

• Protein general information: P00568  
  • Name: Adenylate kinase isoenzyme 1 (AK 1) (EC 2.7.4.3) (EC 2.7.4.6) (ATP AMP transphosphorylase 1) (ATP:AMP phosphotransferase) (Adenylate monophosphate kinase) (Myokinase)
  • Length: 194  
  • Mass: 21635
• Sequence:

  MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDM
  LRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRL
  ETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK

• Structural information:
  • Interpro: IPR000850  IPR033690  IPR028582  IPR006267  IPR027417  
  • Prosite: PS00113
  • CDD: cd01428
  • PDB: 1Z83 2C95
  • PDBsum: 1Z83 2C95
  • STRING: ENSP00000362271
• Other Databases: GeneCards:  AK1  Malacards:  AK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004017	adenylate 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:0005829	cytosol	IBA	cellular component
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0004550	nucleoside diphosphate kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0009142	nucleoside triphosphate biosynthetic process	IEA	biological process
GO:0019205	nucleobase-containing compound kinase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004017	adenylate kinase activity	TAS	molecular function
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:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0046033	AMP metabolic process	IEA	biological process
GO:0006172	ADP biosynthetic process	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0004017	adenylate kinase activity	IEA	molecular function
GO:0005737	cytoplasm	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
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Anemia due to disorders of nucleotide metabolism	KEGG:H00674
Anemia due to disorders of nucleotide metabolism	KEGG:H00674
Congenital nonspherocytic hemolytic anemia	PMID:17662886
Hemolytic anemia	PMID:10233365
obesity	PMID:15855311
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray