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Aliases for MAK Gene

Aliases for MAK Gene

  • Male Germ Cell-Associated Kinase 2 3 4
  • EC 4 63
  • RP62 3 6
  • Male Germ Cell-Associated Kinase Retinal-Enriched Isoform 3
  • Serine/Threonine Protein Kinase MAK 3
  • Serine/Threonine-Protein Kinase MAK 3
  • DJ417M14.2 3
  • EC 2.7.11 63

External Ids for MAK Gene

Previous GeneCards Identifiers for MAK Gene

  • GC06M010870
  • GC06M010638

Summaries for MAK Gene

Entrez Gene Summary for MAK Gene

  • The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. It is expressed almost exclusively in the testis, primarily in germ cells. 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. There is, however, a study of the mouse homolog that has identified high levels of expression in developing sensory epithelia so its function may be more generalized. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

GeneCards Summary for MAK Gene

MAK (Male Germ Cell-Associated Kinase) is a Protein Coding gene. Diseases associated with MAK include retinitis pigmentosa 62 and mak-related retinitis pigmentosa. Among its related pathways are Coregulation of Androgen receptor activity. GO annotations related to this gene include transcription coactivator activity and cyclin-dependent protein serine/threonine kinase activity. An important paralog of this gene is MOK.

UniProtKB/Swiss-Prot for MAK Gene

  • 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.

Gene Wiki entry for MAK Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MAK Gene

Genomics for MAK Gene

Regulatory Elements for MAK Gene

Genomic Location for MAK Gene

10,762,723 bp from pter
10,838,555 bp from pter
75,833 bases
Minus strand

Genomic View for MAK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MAK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MAK Gene

Proteins for MAK Gene

  • Protein details for MAK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine/threonine-protein kinase MAK
    Protein Accession:
    Secondary Accessions:
    • F1T0K6
    • G1FL29
    • Q547D0
    • Q9NUH7

    Protein attributes for MAK Gene

    623 amino acids
    Molecular mass:
    70581 Da
    Quaternary structure:
    • Interacts with RP1 (By similarity). Interacts with AR and CDK20. Found in a complex containing MAK, AR and NCOA3. Interacts with FZR1 (via WD repeats).

    Alternative splice isoforms for MAK Gene


neXtProt entry for MAK Gene

Proteomics data for MAK Gene at MOPED

Selected DME Specific Peptides for MAK Gene

Post-translational modifications for MAK Gene

  • Autophosphorylated. Phosphorylated on serine and threonine residues.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MAK Gene

Antibody Products

Domains for MAK Gene

Gene Families for MAK Gene

Graphical View of Domain Structure for InterPro Entry



  • P20794
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
genes like me logo Genes that share domains with MAK: view

Function for MAK Gene

Molecular function for MAK Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated by dihydrotestosterone (DHT) in androgen-sensitive LNCaP prostate cancer cells in a dose-dependent manner. Up-regulation by DHT is transient, reaching maximum levels after 24 hours and decreases slightly after 48 hours.

Enzyme Numbers (IUBMB) for MAK Gene

Gene Ontology (GO) - Molecular Function for MAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003713 transcription coactivator activity IDA 16951154
GO:0004672 protein kinase activity NAS 2183027
GO:0004674 protein serine/threonine kinase activity --
GO:0004693 cyclin-dependent protein serine/threonine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity --
genes like me logo Genes that share ontologies with MAK: view

Phenotypes for MAK Gene

genes like me logo Genes that share phenotypes with MAK: view

Animal Models for MAK Gene

MGI Knock Outs for MAK:

Animal Model Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAK

In Situ Assay Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for MAK Gene

Localization for MAK Gene

Subcellular locations from UniProtKB/Swiss-Prot for MAK Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Midbody. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment. Note=Localized in both the connecting cilia and the outer segment axonemes (By similarity). Localized uniformly in nuclei during interphase, to the mitotic spindle and centrosomes during metaphase and anaphase, and also to midbody at anaphase until telophase. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for MAK Gene COMPARTMENTS Subcellular localization image for MAK gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for MAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment ISS --
GO:0001917 photoreceptor inner segment IDA 21825139
GO:0005634 nucleus IDA 12084720
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21986944
genes like me logo Genes that share ontologies with MAK: view

Pathways for MAK Gene

genes like me logo Genes that share pathways with MAK: view

Pathways by source for MAK Gene

1 BioSystems pathway for MAK Gene

Gene Ontology (GO) - Biological Process for MAK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006468 protein phosphorylation IDA 21986944
GO:0007275 multicellular organismal development IEA --
GO:0007283 spermatogenesis NAS 2183027
genes like me logo Genes that share ontologies with MAK: view

Compounds for MAK Gene

(2) HMDB Compounds for MAK Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
  • adenosindiphosphorsaeure
genes like me logo Genes that share compounds with MAK: view

Transcripts for MAK Gene

Unigene Clusters for MAK Gene

Male germ cell-associated kinase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MAK

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MAK Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: -
SP3: - -
SP5: -
SP7: -

Relevant External Links for MAK Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MAK Gene

mRNA expression in normal human tissues for MAK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MAK Gene

This gene is overexpressed in Whole Blood (16.3) and Testis (9.9).

Protein differential expression in normal tissues for MAK Gene

This gene is overexpressed in Plasma (62.0) and Ovary (7.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MAK Gene

SOURCE GeneReport for Unigene cluster for MAK Gene Hs.446125

mRNA Expression by UniProt/SwissProt for MAK Gene

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 photoreceptors.
genes like me logo Genes that share expressions with MAK: view

Expression partners for MAK Gene

In Situ Assay Products

Orthologs for MAK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAK Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MAK 35
  • 86.41 (n)
  • 87 (a)
MAK 36
  • 87 (a)
(Canis familiaris)
Mammalia MAK 35
  • 91.1 (n)
  • 91.67 (a)
MAK 36
  • 91 (a)
(Mus musculus)
Mammalia Mak 35
  • 82.4 (n)
  • 83.9 (a)
Mak 16
Mak 36
  • 81 (a)
(Pan troglodytes)
Mammalia MAK 35
  • 99.23 (n)
  • 99.23 (a)
MAK 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Mak 35
  • 83.49 (n)
  • 85.21 (a)
(Monodelphis domestica)
Mammalia MAK 36
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia MAK 36
  • 75 (a)
(Gallus gallus)
Aves MAK 35
  • 73.98 (n)
  • 73.67 (a)
MAK 36
  • 70 (a)
(Anolis carolinensis)
Reptilia MAK 36
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mak 35
  • 67.49 (n)
  • 68.26 (a)
(Danio rerio)
Actinopterygii mak 35
  • 60.62 (n)
  • 62.35 (a)
wufj04c02 35
mak 36
  • 58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8461 35
fruit fly
(Drosophila melanogaster)
Insecta CG6800 37
  • 33 (a)
CG42366 36
  • 33 (a)
(Caenorhabditis elegans)
Secernentea H01G02.2 37
  • 32 (a)
M04C9.5 37
  • 68 (a)
dyf-5 36
  • 48 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IME2 36
  • 22 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MHK 35
  • 61.96 (n)
  • 57.95 (a)
(Glycine max)
eudicotyledons Gma.1663 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9989 35
(Hordeum vulgare)
Liliopsida Hv.3415 35
(Oryza sativa)
Liliopsida Os.7910 35
Os03g0847600 35
  • 61.77 (n)
  • 60.14 (a)
(Triticum aestivum)
Liliopsida Ta.7252 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
Species with no ortholog for MAK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for MAK Gene

Gene Tree for MAK (if available)
Gene Tree for MAK (if available)

Paralogs for MAK Gene

Paralogs for MAK Gene

genes like me logo Genes that share paralogs with MAK: view

Variants for MAK Gene

Sequence variations from dbSNP and Humsavar for MAK Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs16678 -- 10,793,065(-) AATCT(-/TCT)ACTTT intron-variant
rs126405 -- 10,764,494(+) CTCCC(A/G)TGCAC synonymous-codon, reference, nc-transcript-variant
rs474519 -- 10,794,303(+) AAATA(C/T)CTACT intron-variant
rs474669 -- 10,764,947(-) AGCTG(A/G)TTTTT intron-variant
rs478791 -- 10,775,213(-) ACACA(A/G)AGGTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MAK Gene

Variant ID Type Subtype PubMed ID
nsv462631 CNV Gain 19166990
nsv470800 CNV Gain 18288195
nsv5196 CNV Insertion 18451855
nsv5197 CNV Loss 18451855

Relevant External Links for MAK Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MAK Gene

Disorders for MAK Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for MAK Gene in MalaCards »

(3) Diseases for MAK Gene including...

(1) OMIM Diseases for MAK Gene (154235)


  • Retinitis pigmentosa 62 (RP62) [MIM:614181]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:21825139, ECO:0000269 PubMed:21835304}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for MAK Gene

Relevant External Links for MAK

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with MAK: view

No data available for Novoseek inferred disease relationships and Genatlas for MAK Gene

Publications for MAK Gene

  1. Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells. (PMID: 16951154) Ma A.H. … Kung H.J. (Cancer Res. 2006) 2 3 4 23
  2. Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase. (PMID: 16954377) Fu Z. … Sturgill T.W. (Mol. Cell. Biol. 2006) 3 23
  3. Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells. (PMID: 12084720) Xia L. … Kung H.J. (J. Biol. Chem. 2002) 3 4
  4. A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. (PMID: 2183027) Matsushime H. … Shibuya M. (Mol. Cell. Biol. 1990) 3 4
  5. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. (PMID: 21835304) Ozgul R.K. … Corbo J.C. (Am. J. Hum. Genet. 2011) 3 4

Products for MAK Gene

  • Addgene plasmids for MAK

Sources for MAK Gene

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