Function
Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors. 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.
Gene References into Functions
- We report the first case of leaking intraretinal cystoid spaces due to mutation in MAK. Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization. PMID: 26894652
- One patient was homozygous for the insertion, one compound heterozygous with a missense change on the other allele (c. 46G>A; p.Gly16Arg), and three were heterozygous carriers. PMID: 26558903
- We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry PMID: 25255364
- Nonsense and missense mutations in MAK give rise to a non-syndromic recessive RP phenotype without apparent extra-ocular features. PMID: 25385675
- the expressions of ICK/MAK/MOK proteins in the intestinal tract can be differentially and dynamically regulated, implicating a significant functional diversity within this group of protein kinases. PMID: 24244486
- In glioblastoma cells with deregulated high levels of CCRK, its depletion restores cilia through ICK and an ICK-related kinase MAK, thereby inhibiting glioblastoma cell proliferation. PMID: 23743448
- these data implicate MAK in both adrogen receptor activation and chromosomal instability, acting in both early and late prostate cancer development. PMID: 21986944
- The patterns of disease expression in the MAK form of arRP showed some resemblance to patterns described in autosomal dominant RP, especially the form caused by RP1 mutations. PMID: 22110072
- Exome sequencing to identify a homozygous Alu insertion in exon 9 of male germ cell-associated kinase (MAK) as the cause of disease in an isolated individual with retinitis pigmentosa. PMID: 21825139
- Exome sequencing combined with this approach identified a homozygous nonsense mutation in male germ cell-associated kinase (MAK) in the single affected member of a consanguineous Turkish family with retinitis pigmentosa. PMID: 21835304
- identification and transcriptional activation by androgen in prostate cancer cells PMID: 12084720
- MAK plays a general role in androgen receptor(AR) function in prostate cancer cells and is likely to be a general coactivator of AR in prostate tissues. PMID: 16951154
- MRK phosphorylates Scythe at T1080 in vitro as determined by site-directed mutagenesis and mass spectrometry, supporting the consensus and suggesting Scythe as a physiological substrate for MRK. PMID: 16954377
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Involvement in disease
Retinitis pigmentosa 62 (RP62)
Subcellular Location
Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Midbody. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment.
Protein Families
Protein kinase superfamily, CMGC Ser/Thr protein kinase family, CDC2/CDKX subfamily
Tissue Specificity
Expressed in prostate cancer cell lines at generally higher levels than in normal prostate epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is retina-specific where it is expressed in rod and cone photo
