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Aliases for MAK Gene

Aliases for MAK Gene

  • Male Germ Cell Associated Kinase 2 3
  • Male Germ Cell-Associated Kinase 2 4 5
  • EC 2.7.11.22 4 63
  • Male Germ Cell-Associated Kinase Retinal-Enriched Isoform 3
  • Serine/Threonine Protein Kinase MAK 3
  • Testicular Secretory Protein Li 28 3
  • EC 2.7.11 63
  • RP62 3

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. 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. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

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 transferase activity, transferring phosphorus-containing groups and protein tyrosine 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

Enhancers for MAK Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MAK on UCSC Golden Path with GeneCards custom track

Promoters for MAK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MAK on UCSC Golden Path with GeneCards custom track

Genomic Location for MAK Gene

Chromosome:
6
Start:
10,762,723 bp from pter
End:
10,838,605 bp from pter
Size:
75,883 bases
Orientation:
Minus strand

Genomic View for MAK Gene

Genes around MAK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MAK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P20794-MAK_HUMAN
    Recommended name:
    Serine/threonine-protein kinase MAK
    Protein Accession:
    P20794
    Secondary Accessions:
    • F1T0K6
    • G1FL29
    • Q547D0
    • Q9NUH7

    Protein attributes for MAK Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

Domains & Families for MAK Gene

Gene Families for MAK Gene

Graphical View of Domain Structure for InterPro Entry

P20794

UniProtKB/Swiss-Prot:

MAK_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Domain:
  • Contains 1 protein kinase domain.
Family:
  • 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

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

Human Phenotype Ontology for MAK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MAK Gene

MGI Knock Outs for MAK:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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

COMPARTMENTS
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:0005634 nucleus IDA 12084720
genes like me logo Genes that share ontologies with MAK: view

Pathways & Interactions 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:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0046777 protein autophosphorylation IMP 21986944
GO:0051726 regulation of cell cycle IEA --
genes like me logo Genes that share ontologies with MAK: view

No data available for SIGNOR curated interactions for MAK Gene

Drugs & Compounds for MAK Gene

(1) Drugs for MAK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for MAK Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

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: - -
SP4:
SP5: -
SP6:
SP7: -

Relevant External Links for MAK Gene

GeneLoc Exon Structure for
MAK
ECgene alternative splicing isoforms for
MAK

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 (x16.3) and Testis (x9.9).

Protein differential expression in normal tissues from HIPED for MAK Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P20794-MAK_HUMAN
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 expression patterns with MAK: view

Protein tissue co-expression partners for MAK Gene

Primer 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
cow
(Bos Taurus)
Mammalia MAK 35
  • 86.41 (n)
  • 87 (a)
MAK 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MAK 35
  • 91.1 (n)
  • 91.67 (a)
MAK 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mak 35
  • 82.4 (n)
  • 83.9 (a)
Mak 16
Mak 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MAK 35
  • 99.23 (n)
  • 99.23 (a)
MAK 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mak 35
  • 83.49 (n)
  • 85.21 (a)
oppossum
(Monodelphis domestica)
Mammalia MAK 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAK 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAK 35
  • 73.98 (n)
  • 73.67 (a)
MAK 36
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAK 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mak 35
  • 67.49 (n)
  • 68.26 (a)
zebrafish
(Danio rerio)
Actinopterygii mak 35
  • 60.62 (n)
  • 62.35 (a)
wufj04c02 35
mak 36
  • 58 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8461 35
fruit fly
(Drosophila melanogaster)
Insecta CG6800 37
  • 33 (a)
CG42366 36
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea H01G02.2 37
  • 32 (a)
M04C9.5 37
  • 68 (a)
dyf-5 36
  • 48 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IME2 36
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MHK 35
  • 61.96 (n)
  • 57.95 (a)
soybean
(Glycine max)
eudicotyledons Gma.1663 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9989 35
barley
(Hordeum vulgare)
Liliopsida Hv.3415 35
rice
(Oryza sativa)
Liliopsida Os.7910 35
Os03g0847600 35
  • 61.77 (n)
  • 60.14 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.7252 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 68 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MAK (if available)
TreeFam:
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
rs56215624 - 10,803,818(+) CATGA(C/T)ACTTC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_042007 A breast infiltrating ductal carcinoma sample
rs55773478 - 10,791,840(+) TGCCA(C/T)TTGGC intron-variant, nc-transcript-variant, reference, missense
rs567083 - 10,775,367(+) AACGG(A/G)TCCCA nc-transcript-variant, downstream-variant-500B, reference, missense
rs56217305 - 10,770,180(+) GAGAA(A/G)GGAAG intron-variant, nc-transcript-variant, reference, missense

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

Variation tolerance for MAK Gene

Residual Variation Intolerance Score: 38.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MAK Gene

Human Gene Mutation Database (HGMD)
MAK

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

Disorders for MAK Gene

MalaCards: The human disease database

(4) MalaCards diseases for MAK Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 62
  • rp62
mak-related retinitis pigmentosa
  • retinitis pigmentosa 62
retinitis pigmentosa
  • retinitis pigmentosa 1
prostate cancer
  • prostate cancer, hereditary, 5
- elite association - COSMIC cancer census association via MalaCards
Search MAK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MAK_HUMAN
  • 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.

Relevant External Links for MAK

Genetic Association Database (GAD)
MAK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MAK
genes like me logo Genes that share disorders with MAK: view

No data available for 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 67
  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. Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. (PMID: 25255364) Venturini G. … Rivolta C. (Genet. Med. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. (PMID: 25385675) van Huet R.A. … Klevering B.J. (Acta Ophthalmol 2014) 3

Products for MAK Gene

Sources for MAK Gene

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