MAK: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

MAK

Aliases

RP62

Entrez Gene ID

4117

Gene Name

Male germ cell associated kinase

Chromosomal Location

6p24.2

HGNC ID

HGNC:6816

Summary

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 synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

RefSeq DNA

NG_030040.1

RefSeq mRNA

NM_001242957.2, NR_134935.2, NR_134936.2, NM_005906.6, NM_001242385.1, NM_001242957.3, NM_001377262.1

e!Ensembl

Gene	ENSG00000111837
Transcript	ENST00000313243, ENST00000474039, ENST00000354489, ENST00000536370, ENST00000538030
Protein	ENSP00000313021, ENSP00000476067, ENSP00000346484, ENSP00000442221, ENSP00000442250

Gene Ontology (GO)

Show/Hide all(19 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006468	Biological process	Protein phosphorylation	IDA	21986944
GO:0007283	Biological process	Spermatogenesis	NAS	2183027
GO:0010468	Biological process	Regulation of gene expression	IBA	21873635
GO:0035556	Biological process	Intracellular signal transduction	IBA	21873635
GO:0042073	Biological process	Intraciliary transport	IBA	21873635
GO:0046777	Biological process	Protein autophosphorylation	IMP	21986944
GO:0060271	Biological process	Cilium assembly	IBA	21873635
GO:0001917	Cellular component	Photoreceptor inner segment	IDA	21825139
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	12084720
GO:0005737	Cellular component	Cytoplasm	IBA	21873635
GO:0005813	Cellular component	Centrosome	IDA	21986944
GO:0005929	Cellular component	Cilium	IBA	21873635
GO:0030496	Cellular component	Midbody	IDA	21986944
GO:0072686	Cellular component	Mitotic spindle	IDA	21986944
GO:0003713	Molecular function	Transcription coactivator activity	IDA	16951154
GO:0004672	Molecular function	Protein kinase activity	NAS	2183027
GO:0004674	Molecular function	Protein serine/threonine kinase activity	IBA	21873635
GO:0005515	Molecular function	Protein binding	IPI	16951154, 21986944

Protein Information

Protein Name

Serine/threonine-protein kinase MAK, male germ cell-associated kinase retinal-enriched isoform, serine/threonine protein kinase MAK, testicular secretory protein Li 28

Function

Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.

Refseq Proteins

NP_001229886.1, , NP_005897.1, NP_001229314.1, NP_001364191.1

UniProt

P20794

Pfam

Pfam Accession	Pfam ID
PF00069	Pkinase