• Gene id: 50808

Gene Summary

• Gene Symbol: AK3   Gene   UCSC   Ensembl
• Aliases: AK3L1, AK6, AKL3L, AKL3L1, FIX
• Gene name: adenylate kinase 3
• Alternate names: GTP:AMP phosphotransferase AK3, mitochondrial, GTP:AMP phosphotransferase, mitochondrial, adenylate kinase 3 alpha-like 1, adenylate kinase 6, adenylate kinase 3 like 1,
• Gene location: 9p24.1 (4742042: 4709555)     Exons: 8     NC_000009.12
• Gene summary(Entrez): The protein encoded by this gene is a GTP:ATP phosphotransferase that is found in the mitochondrial matrix. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
• OMIM: 609290

Protein Summary

• Protein general information: Q9UIJ7  
  • Name: GTP:AMP phosphotransferase AK3, mitochondrial (EC 2.7.4.10) (Adenylate kinase 3) (AK 3) (Adenylate kinase 3 alpha like 1)
  • Length: 227  
  • Mass: 25565
  • Tissue specificity: Highly expressed in heart, skeletal muscle and liver, moderately expressed in pancreas and kidney, and weakly expressed in placenta, brain and lung. {ECO
• Sequence:

  MGASARLLRAVIMGAPGSGKGTVSSRITTHFELKHLSSGDLLRDNMLRGTEIGVLAKAFIDQGKLIPDDVMTRLA
  LHELKNLTQYSWLLDGFPRTLPQAEALDRAYQIDTVINLNVPFEVIKQRLTARWIHPASGRVYNIEFNPPKTVGI
  DDLTGEPLIQREDDKPETVIKRLKAYEDQTKPVLEYYQKKGVLETFSGTETNKIWPYVYAFLQTKVPQRSQKASV
  TP

• Structural information:
  • Interpro: IPR006259  IPR000850  IPR033690  IPR007862  IPR036193   IPR028586  IPR027417  
  • Prosite: PS00113
  • CDD: cd01428
  • PDB: 1ZD8
  • PDBsum: 1ZD8
  • STRING: ENSP00000371230
• Other Databases: GeneCards:  AK3  Malacards:  AK3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046899	nucleoside triphosphate adenylate kinase activity	IBA	molecular function
GO:0046033	AMP metabolic process	IBA	biological process
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0009142	nucleoside triphosphate biosynthetic process	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016776	phosphotransferase activity, phosphate group as acceptor	IEA	molecular function
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:0005525	GTP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0046899	nucleoside triphosphate adenylate kinase activity	IEA	molecular function
GO:0046899	nucleoside triphosphate adenylate kinase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0007596	blood coagulation	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:0005739	mitochondrion	IEA	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0046899	nucleoside triphosphate adenylate kinase activity	IDA	molecular function
GO:0004017	adenylate kinase activity	IDA	NOT|molecular function
GO:0046033	AMP metabolic process	IDA	biological process
GO:0046041	ITP metabolic process	IDA	biological process
GO:0046039	GTP metabolic process	IDA	biological process
GO:0046051	UTP metabolic process	IDA	biological process
GO:0005759	mitochondrial matrix	ISS	cellular component
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0046041	ITP metabolic process	IEA	biological process
GO:0006172	ADP biosynthetic process	IEA	biological process
GO:0046033	AMP metabolic process	IEA	biological process
GO:0046899	nucleoside triphosphate adenylate kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0046039	GTP metabolic process	IEA	biological process
GO:0046940	nucleoside monophosphate phosphorylation	IEA	biological process
GO:0005739	mitochondrion	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00230	Purine metabolism

Diseases

Associated diseases	References
Chronic lymphocytic leukemia	PMID:27078856
hepatocellular carcinoma	PMID:17203974
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)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R