• Gene id: 205

Gene Summary

• Gene Symbol: AK4   Gene   UCSC   Ensembl
• Aliases: AK 4, AK3, AK3L1, AK3L2
• Gene name: adenylate kinase 4
• Alternate names: adenylate kinase 4, mitochondrial, ATP-AMP transphosphorylase, GTP:AMP phosphotransferase AK4, mitochondrial, adenylate kinase 3-like 1, adenylate kinase isoenzyme 4, mitochondrial, epididymis secretory sperm binding protein, mitochondrial adenylate kinase-3, nu,
• Gene location: 1p31.3 (6123608: 6074844)     Exons: 15     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the adenylate kinase family of enzymes. The encoded protein is localized to the mitochondrial matrix. Adenylate kinases regulate the adenine and guanine nucleotide compositions within a cell by catalyzing the reversible trans
• OMIM: 103030

SNPs

rs1042064

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

NC_000008.11   g.27544615T>C
NC_000008.10   g.27402132T>C
NG_012064.1   g.58488T>C
NM_001979.6   c.*93T>C
NM_001979.5   c.*93T>C
NM_001256484.2   c.*93T>C
NM_001256484.1   c.*93T>C
NM_001256482.2   c.*93T>C
NM_001256482.1   c.*93T>C
NM_001256483.2   c.*93T>C
NM_00125648  

Protein Summary

• Protein general information: P27144  
  • Name: Adenylate kinase 4, mitochondrial (AK 4) (EC 2.7.4.10) (EC 2.7.4.6) (Adenylate kinase 3 like) (GTP:AMP phosphotransferase AK4)
  • Length: 223  
  • Mass: 25268
  • Tissue specificity: Highly expressed in kidney, moderately expressed in heart and liver and weakly expressed in brain. {ECO
• Sequence:

  MASKLLRAVILGPPGSGKGTVCQRIAQNFGLQHLSSGHFLRENIKASTEVGEMAKQYIEKSLLVPDHVITRLMMS
  ELENRRGQHWLLDGFPRTLGQAEALDKICEVDLVISLNIPFETLKDRLSRRWIHPPSGRVYNLDFNPPHVHGIDD
  VTGEPLVQQEDDKPEAVAARLRQYKDVAKPVIELYKSRGVLHQFSGTETNKIWPYVYTLFSNKITPIQSKEAY

• Structural information:
  • Interpro: IPR006259  IPR000850  IPR033690  IPR007862  IPR036193   IPR028586  IPR028585  IPR027417  
  • Prosite: PS00113
  • CDD: cd01428
  • PDB: 2AR7 2BBW 3NDP
  • PDBsum: 2AR7 2BBW 3NDP
  • STRING: ENSP00000378743
• Other Databases: GeneCards:  AK4  Malacards:  AK4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006163	purine nucleotide metabolic process	IBA	biological process
GO:0046033	AMP metabolic process	IBA	biological process
GO:0004550	nucleoside diphosphate kinase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0006165	nucleoside diphosphate phosphorylation	IBA	biological process
GO:0009142	nucleoside triphosphate biosynthetic process	IBA	biological process
GO:0019205	nucleobase-containing compound kinase activity	IEA	molecular function
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:0016301	kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004550	nucleoside diphosphate kinase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0050145	nucleoside monophosphate kinase activity	TAS	molecular function
GO:0015949	nucleobase-containing small molecule interconversion	TAS	biological process
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0046899	nucleoside triphosphate adenylate kinase activity	IDA	NOT|molecular function
GO:0046899	nucleoside triphosphate adenylate kinase activity	IDA	molecular function
GO:0004017	adenylate kinase activity	IDA	NOT|molecular function
GO:0004017	adenylate kinase activity	IDA	molecular function
GO:0046033	AMP metabolic process	IDA	biological process
GO:0046034	ATP metabolic process	IDA	biological process
GO:0005739	mitochondrion	IDA	cellular component
GO:0046039	GTP 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:0046033	AMP metabolic process	IEA	biological process
GO:0046034	ATP metabolic process	IEA	biological process
GO:0006172	ADP biosynthetic process	IEA	biological process
GO:0046039	GTP metabolic process	IEA	biological process
GO:0005759	mitochondrial matrix	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: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:0005739	mitochondrion	IDA	cellular component
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0002082	regulation of oxidative phosphorylation	IMP	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:2001169	regulation of ATP biosynthetic process	IMP	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

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

Diseases

Associated diseases	References
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)