• Gene id: 221264

Gene Summary

• Gene Symbol: AK9   Gene   UCSC   Ensembl
• Aliases: AK 9, AKD1, AKD2, C6orf199, C6orf224, dJ70A9.1
• Gene name: adenylate kinase 9
• Alternate names: adenylate kinase 9, adenylate kinase domain containing 1, adenylate kinase domain containing 2,
• Gene location: 6q21 (109691211: 109492854)     Exons: 7     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene catalyzes the interconversion of nucleosides, possessing both nucleoside monophosphate and diphosphate kinase activities. The encoded protein uses these interconversions to maintain nucleoside homeostasis. [provided by Ref
• OMIM: 615358

Protein Summary

• Protein general information: Q5TCS8  
  • Name: Adenylate kinase 9 (AK 9) (EC 2.7.4.4) (EC 2.7.4.6) (Adenylate kinase domain containing protein 1) (Adenylate kinase domain containing protein 2)
  • Length: 1911  
  • Mass: 221413
• Sequence:

  MTSQEKTEEYPFADIFDEDETERNFLLSKPVCFVVFGKPGVGKTTLARYITQAWKCIRVEALPILEEQIAAETES
  GVMLQSMLISGQSIPDELVIKLMLEKLNSPEVCHFGYIITEIPSLSQDAMTTLQQIELIKNLNLKPDVIINIKCP
  DYDLCQRISGQRQHNNTGYIYSRDQWDPEVIENHRKKKKEAQKDGKGEEEEEEEEQEEEEAFIAEMQMVAEILHH
  LVQRPEDYLENVENIVKLYKETILQTLEEVMAEHNPQYLIELNGNKPAEELFMIVMDRLKYLNLKRAAILTKLQG
  AEEEINDTMENDELFRTLASYKLIAPRYRWQRSKWGRTCPVNLKDGNIYSGLPDYSVSFLGKIYCLSSEEALKPF
  LLNPRPYLLPPMPGPPCKVFILGPQYSGKTTLCNMLAENYKGKVVDYAQLVQPRFDKARETLVENTIAEATAAAI
  KVVKEKLLRELQARKQAETALREFQRQYEKMEFGVFPMEATHSSIDEEGYIQGSQRDRGSSLVDTEEAKTKSENV
  LHDQAAKVDKDDGKETGETFTFKRHSQDASQDVKLYSDTAPTEDLIEEVTADHPEVVTMIEETIKMSQDINFEQP
  YEKHAEILQEVLGEVMEENKDRFPGAPKYGGWIVDNCPIVKELWMALIKKGIIPDLVIYLSDTENNGKCLFNRIY
  LQKKSEIDSKILERLLEELQKKKKEEEEARKATEEELRLEEENRRLLELMKVKAKEAEETDNEDEEEIEGDELEV
  HEEPEASHDTRGSWLPEEFEASEVPETEPEAVSEPIEETTVETEIPKGSKEGLEIEKLSETVVLPEFPEDSYPDV
  PEMEPFKEKIGSFIILWKQLEATISEAYIKILNLEIADRTPQELLQKVVETMEKPFQYTAWELTGEDYEEETEDY
  QTEAEVDEELEEEEEEEGEDKMKERKRHLGDTKHFCPVVLKENFILQPGNTEEAAKYREKIYYFSSAEAKEKFLE
  HPEDYVAHEEPLKAPPLRICLVGPQGSGKTMCGRQLAEKLNIFHIQFEEVLQEKLLLKTEKKVGPEFEEDSENEQ
  AAKQELEELAIQANVKVEEENTKKQLPEVQLTEEEEVIKSSLMENEPLPPEILEVILSEWWLKEPIRSTGFILDG
  FPRYPEEAQFLGDRGFFPDAAVFIQVDDQDIFDRLLPAQIEKWKLKQKKKLERKKLIKDMKAKIRVDTIAKRRAE
  LILERDKKRRENVVRDDEEISEEELEEDNDDIENILEDEFPKDEEEMSGEEDEEQETDAIERLRGELGEKFEADT
  HNLQIIQDELERYLIPIISINGARRNHIVQYTLNMKLKPLVENRASIFEKCHPIPAPLAQKMLTFTYKYISSFGY
  WDPVKLSEGETIKPVENAENPIYPVIHRQYIYFLSSKETKEKFMKNPIKYIRQPKPKPTVPIRIIIVGPPKSGKT
  TVAKKITSEYGLKHLSIGGALRYVLNNHPETELALMLNWHLHKGMTAPDELAIQALELSLMESVCNTAGVVIDGY
  PVTKHQMNLLEARSIIPMVIFELSVPSKEIFKRLLLEKENEQRLPYPLHNSAQIVAVNNVKYRKNIGEIRQYYQE
  QHQNWYVIDGFHSKWWVWNEVIKNVQMVNKYMQTYLERIKAGKAACIDKLCITPQELLSRLGEFEQFCPVSLAES
  QELFDCSATDSLEFAAEFRGHYYKMSSQEKLNKFLENPELYVPPLAPHPLPSADMIPKRLTLSELKSRFPKCAEL
  QGYCPVTYKDGNQRYEALVPGSINYALEYHNRIYICENKEKLQKFLRSPLKYWEQKLPHKLPPLREPILLTSLPL
  PGYLEQGIATSLIKAMNAAGCLKPKFPFLSIRRSALLYIALHLKAFNPKGSEYTRKKYKKKMEQFMESCELITYL
  GAKMTRKYKEPQFRAIDFDHKLKTFLSLRNIDPING

• Structural information:
  • Interpro: IPR003593  IPR000850  IPR027417  
  • CDD: cd01428
  • STRING: ENSP00000410186
• Other Databases: GeneCards:  AK9  Malacards:  AK9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0006186	dGDP phosphorylation	IBA	biological process
GO:0004017	adenylate kinase activity	IBA	molecular function
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0006756	AMP phosphorylation	IBA	biological process
GO:0006757	ATP generation from ADP	IBA	biological process
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:0009117	nucleotide metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0050145	nucleoside monophosphate 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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0061570	dCDP phosphorylation	IDA	biological process
GO:0061565	dAMP phosphorylation	IDA	biological process
GO:0006757	ATP generation from ADP	IDA	biological process
GO:0006174	dADP phosphorylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0061568	GDP phosphorylation	IDA	biological process
GO:0061508	CDP phosphorylation	IDA	biological process
GO:0050145	nucleoside monophosphate kinase activity	IDA	molecular function
GO:0006756	AMP phosphorylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0004550	nucleoside diphosphate kinase activity	IDA	molecular function
GO:0061571	TDP phosphorylation	IDA	biological process
GO:0061567	dCMP phosphorylation	IDA	biological process
GO:0006186	dGDP phosphorylation	IDA	biological process
GO:0061569	UDP phosphorylation	IDA	biological process
GO:0061566	CMP phosphorylation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa00240	Pyrimidine metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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