• Gene id: 4117

Gene Summary

• Gene Symbol: MAK   Gene   UCSC   Ensembl
• Aliases: RP62
• Gene name: male germ cell associated kinase
• Alternate names: serine/threonine-protein kinase MAK, male germ cell-associated kinase retinal-enriched isoform, serine/threonine protein kinase MAK, testicular secretory protein Li 28,
• Gene location: 6p24.2 (10838953: 10762722)     Exons: 20     NC_000006.12
• Gene summary(Entrez): The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the s
• OMIM: 154235

Protein Summary

• Protein general information: P20794  
  • Name: Serine/threonine protein kinase MAK (EC 2.7.11.1) (Male germ cell associated kinase)
  • Length: 623  
  • Mass: 70,581
• Sequence:

  MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDECMNLREVKSLKKLNHANVIKLKEVIRENDHL
  YFIFEYMKENLYQLMKDRNKLFPESVIRNIMYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVKIADFGLAREL
  RSQPPYTDYVSTRWYRAPEVLLRSSVYSSPIDVWAVGSIMAELYMLRPLFPGTSEVDEIFKICQVLGTPKKSDWP
  EGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPKKRPTASQALKHPYFQVGQVLGPSSNHLESK
  QSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQPQPKTSQQPLQPIQPPQNLSVQQPPKQQSQEKPPQTLFPSI
  VKNMPTKPNGTLSHKSGRRRWGQTIFKSGDSWEELEDYDFGASHSKKPSMGVFKEKRKKDSPFRLPEPVPSGSNH
  STGENKSLPAVTSLKSDSELSTAPTSKQYYLKQSRYLPGVNPKKVSLIASGKEINPHTWSNQLFPKSLGPVGAEL
  AFKRSNAGNLGSYATYNQSGYIPSFLKKEVQSAGQRIHLAPLNATASEYTWNTKTGRGQFSGRTYNPTAKNLNIV
  NRAQPIPSVHGRTDWVAKYGGHR

• Structural information:
  • Protein Domains: Protein (4-284)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR008271  
  • Prosite: PS00107 PS50011 PS00108
  • STRING: ENSP00000313021
• Other Databases: GeneCards:  MAK  Malacards:  MAK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0004672	protein kinase activity	NAS	molecular function
GO:0004693	cyclin-dependent protein serine/threonine kinase activity	IEA	molecular function
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:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	NAS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030496	midbody	IDA	cellular component
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0072686	mitotic spindle	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	NAS	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004693	cyclin-dependent protein serine/threonine kinase activity	IEA	molecular function
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:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	NAS	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0030496	midbody	IEA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0072686	mitotic spindle	IDA	cellular component
GO:0001750	photoreceptor outer segment	ISS	cellular component
GO:0001917	photoreceptor inner segment	IDA	cellular component
GO:0003713	transcription coactivator activity	IDA	molecular function
GO:0004672	protein kinase activity	NAS	molecular function
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:0005634	nucleus	IDA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007283	spermatogenesis	NAS	biological process
GO:0030496	midbody	IDA	cellular component
GO:0045494	photoreceptor cell maintenance	ISS	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0072686	mitotic spindle	IDA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	OMIM: 154235
Polycystic ovary syndrome (PCOS)	INFBASE: 22935150
Unexplained azoospermia	MIK: 26662397
Spermatogenesis defects	MIK: 26662397
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Azoospermia	MIK: 26662397
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
2183027	Plays an important role in spermatogenesis				Male infertility
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R