• Gene id: 122481

Gene Summary

• Gene Symbol: AK7   Gene   UCSC   Ensembl
• Aliases: AK 7, CFAP75, FAP75, SPGF27
• Gene name: adenylate kinase 7
• Alternate names: adenylate kinase 7, ATP-AMP transphosphorylase 7, putative adenylate kinase 7,
• Gene location: 14q32.2 (96392110: 96489426)     Exons: 18     NC_000014.9
• Gene summary(Entrez): This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative
• OMIM: 607064

SNPs

rs2369679

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

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

Protein Summary

• Protein general information: Q96M32  
  • Name: Adenylate kinase 7 (AK 7) (EC 2.7.4.3) (EC 2.7.4.6) (ATP AMP transphosphorylase 7)
  • Length: 723  
  • Mass: 82658
  • Tissue specificity: Expressed in sperm and airway epithelial cells (at protein level). {ECO
• Sequence:

  MAEEEETAALTEKVIRTQRVFINLLDSYSSGNIGKFLSNCVVGASLEEITEEEEEEDENKSAMLEASSTKVKEGT
  FQIVGTLSKPDSPRPDFAVETYSAISREDLLMRLLECDVIIYNITESSQQMEEAIWAVSALSEEVSHFEKRKLFI
  LLSTVMTWARSKALDPEDSEVPFTEEDYRRRKSHPNFLDHINAEKMVLKFGKKARKFAAYVVAAGLQYGAEGGML
  HTFFKMAWLGEIPALPVFGDGTNVIPTIHVLDLAGVIQNVIDHVPKPHYLVAVDESVHTLEDIVKCISKNTGPGK
  IQKIPRENAYLTKDLTQDCLDHLLVNLRMEALFVKENFNIRWAAQTGFVENINTILKEYKQSRGLMPIKICILGP
  PAVGKSSIAKELANYYKLHHIQLKDVISEAIAKLEAIVAPNDVGEGEEEVEEEEEEENVEDAQELLDGIKESMEQ
  NAGQLDDQYIIRFMKEKLKSMPCRNQGYILDGFPKTYDQAKDLFNQEDEEEEDDVRGRMFPFDKLIIPEFVCALD
  ASDEFLKERVINLPESIVAGTHYSQDRFLRALSNYRDINIDDETVFNYFDELEIHPIHIDVGKLEDAQNRLAIKQ
  LIKEIGEPRNYGLTDEEKAEEERKAAEERLAREAAEEAEREHQEAVEMAEKIARWEEWNKRLEEVKREERELLEA
  QSIPLRNYLMTYVMPTLIQGLNECCNVRPEDPVDFLAEYLFKNNPEAQ

• Structural information:
  • Interpro: IPR000850  IPR026867  IPR007858  IPR036291  IPR027417  
  • CDD: cd01428
  • STRING: ENSP00000267584
• Other Databases: GeneCards:  AK7  Malacards:  AK7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0009142	nucleoside triphosphate biosynthetic process	IBA	biological process
GO:0006165	nucleoside diphosphate phosphorylation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0004127	cytidylate kinase activity	IBA	molecular function
GO:0004017	adenylate kinase activity	IBA	molecular function
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:0004127	cytidylate 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:0016301	kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0031514	motile cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	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:0005829	cytosol	IEA	cellular component
GO:0031514	motile cilium	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
Spermatogenic failure	KEGG:H01282
Spermatogenic failure	KEGG:H01282
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq