Property Summary

NCBI Gene PubMed Count 24
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 2.4e-05
posterior fossa group B ependymoma 3.800 3.1e-16
psoriasis -1.800 7.0e-04
osteosarcoma -2.382 5.0e-07
group 3 medulloblastoma 4.200 3.0e-08
medulloblastoma, large-cell 2.400 4.0e-03
tuberculosis -1.100 3.7e-03
lung cancer -2.200 1.1e-05
lung carcinoma -1.300 1.2e-06

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.
16951154 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.
12084720 identification and transcriptional activation by androgen in prostate cancer cells

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.
21148103 2010 Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
16954377 2006 Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase.
16951154 2006 Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12084720 2002 Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8359591 1993 Characterization and expression analysis of the murine rck gene: a protein kinase with a potential function in sensory cells.
8321219 1993 Testis-specific mak protein kinase is expressed specifically in the meiotic phase in spermatogenesis and is associated with a 210-kilodalton cellular phosphoprotein.
2183027 1990 A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis.