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FLASH GENE

Symbol

MAK

contributors: mct - updated : 01-12-2015

HGNC name	male germ cell-associated kinase
HGNC id	6816

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	RP62 retinitis pigmentosa 62
Location	6p24.2      Physical location : 10.762.956 - 10.831.110
Synonym name	serine/threonine protein kinase MAK
Synonym symbol(s)	RP62, dJ417M14.2
EC.number	2.7.11.22

DNA

TYPE	functioning gene
STRUCTURE	75.88 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Binding site   enhancer   HRE
text structure	three androgen responsive element -like motifs

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005906 14 - 3899 NP_005897 - 623 - - NM_001242957 15 - 3974 NP_001229886 - 648 - - NM_001242385 13 - 3800 NP_001229314 - 583 - -

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Reproductive male system testis     predominantly   male system prostate       Homo sapiens Respiratory lung         Urinary kidney

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage	germ cells
cell lines	prostate cancer
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a kinase catalytic domain at its N terminus, followed by a proline/glutamine-rich domain
	sequence motifs related to both the cyclin-dependent kinase and the mitogen-activated protein kinase families
	a nuclear localization signal

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to rattus Mak
	ortholog to murine Mak
	homolog to Drosophila CG4588
	homolog to C.elegans M04C9.5
	homolog to Saccharomyces cerevisiae Ime2p

Homologene

FAMILY	SER/THR family of protein kinases
	CDC2/CDKX subfamily

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
	intracellular,nucleus,chromatin/chromosome
text	localized both in the connecting cilia and outer-segment axonemes of photoreceptor cells (PMID,:

basic FUNCTION	serine/threonine protein kinase, targeted by androgen that may participate in androgen-mediated signaling in prostate cancer cells
	MAK and ICK require dual phosphorylation in a TDY motif catalyzed by an unidentified human threonine kinase and tyrosine autophosphorylation
	regulates retinal photoreceptor ciliary length and subcompartmentalization
	is essential for the regulation of ciliary length and is required for the long-term survival of photoreceptors
	implicated in both AR activation and chromosomal instability, acting in both early and late prostate cancer development
	androgen-inducible gene in prostate epithelial cells, and it acts as a coactivator of androgen receptor signaling in prostate cancer

CELLULAR PROCESS	cell cycle,division,meiosis

PHYSIOLOGICAL PROCESS

development , reproduction/sex

text	spermatogenesis

PATHWAY

metabolism

signaling

sensory transduction/olfaction , sensory transduction/vision

a component

INTERACTION

DNA

RNA

small molecule	nucleotide,
	ATP

protein	direct transcriptional target of androgen receptor (AR), is a co-activator of AR
	associates with FZR1, and phosphorylates FZR1 at sites phosphorylated by cyclin-dependent kinases

cell & other

REGULATION

induced by

androgenic hormone 5alpha-dihydrotestosterone (DHT)

ASSOCIATED DISORDERS

corresponding disease(s)

RP62

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   overexpression of MAK leads to mitotic defects such as centrosome amplification and lagging chromosomes

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

in the Mak-null retina, photoreceptors exhibit elongated cilia and progressive degeneration