Property Summary

NCBI Gene PubMed Count 24
Grant Count 53
R01 Count 41
Funding $5,416,391.1
PubMed Score 21.65
PubTator Score 21.99

Knowledge Summary

Patent (13,583)

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma 1.200 0.000
posterior fossa group B ependymoma 3.800 0.000
psoriasis -1.800 0.001
osteosarcoma -2.382 0.000
group 3 medulloblastoma 4.200 0.000
medulloblastoma, large-cell 2.400 0.004
tuberculosis -1.100 0.004
lung cancer -2.200 0.000
lung carcinoma -1.300 0.000

Gene RIF (12)

PMID Text
26558903 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.
25385675 Nonsense and missense mutations in MAK give rise to a non-syndromic recessive RP phenotype without apparent extra-ocular features.
25255364 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
24244486 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.
23743448 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.
22110072 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.
21986944 these data implicate MAK in both adrogen receptor activation and chromosomal instability, acting in both early and late prostate cancer development.
21835304 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.
21825139 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.
16954377 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.
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AA Sequence

MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDECMNLREVKSLKKLNHANVIKLKEVIR      1 - 70
ENDHLYFIFEYMKENLYQLMKDRNKLFPESVIRNIMYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVK     71 - 140
IADFGLARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSPIDVWAVGSIMAELYMLRPLFPGTSEVDEIF    141 - 210
KICQVLGTPKKSDWPEGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPKKRPTASQALK    211 - 280
HPYFQVGQVLGPSSNHLESKQSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQPQPKTSQQPLQPIQPP    281 - 350
QNLSVQQPPKQQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSGRRRWGQTIFKSGDSWEELEDYDFGASHS    351 - 420
KKPSMGVFKEKRKKDSPFRLPEPVPSGSNHSTGENKSLPAVTSLKSDSELSTAPTSKQYYLKQSRYLPGV    421 - 490
NPKKVSLIASGKEINPHTWSNQLFPKSLGPVGAELAFKRSNAGNLGSYATYNQSGYIPSFLKKEVQSAGQ    491 - 560
RIHLAPLNATASEYTWNTKTGRGQFSGRTYNPTAKNLNIVNRAQPIPSVHGRTDWVAKYGGHR           561 - 623
//

Text Mined References (24)

PMID Year Title
26558903 2015 Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.
25385675 2015 Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
25255364 2015 Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
24244486 2013 Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.
23743448 2013 CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.
22110072 2011 Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
21986944 2012 Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/CCDH1.
21835304 2011 Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
21825139 2011 Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
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