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Aliases for MAK Gene

Aliases for MAK Gene

  • Male Germ Cell Associated Kinase 2 3 5
  • Male Germ Cell-Associated Kinase 2 4
  • Male Germ Cell-Associated Kinase Retinal-Enriched Isoform 3
  • Serine/Threonine Protein Kinase MAK 3
  • Serine/Threonine-Protein Kinase MAK 3
  • Testicular Secretory Protein Li 28 3
  • EC 2.7.11.1 4
  • 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 Retinitis Pigmentosa. Among its related pathways are Coregulation of Androgen receptor activity. Gene Ontology (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 ICK.

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

Additional gene information for MAK Gene

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

Genomics for MAK Gene

GeneHancer (GH) Regulatory Elements for MAK Gene

Promoters and enhancers for MAK Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J010837 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.4 371 2.3 HDGF SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 MAK ENSG00000235051 GCM2 SYCP2L GCNT2 RNA5SP203 ENSG00000272162 TMEM14B
GH06J011322 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 6 -485.1 -485115 2.7 HDGF PKNOX1 MLX ARID4B DMAP1 IRF4 ZNF48 SLC30A9 ZNF207 ATF7 TMEM170B NEDD9 MAK C6orf52 LOC105374925 GC06M011330
GH06J011228 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 1.8 -393.1 -393070 6.6 HDGF PKNOX1 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 YY1 NEDD9 ENSG00000247925 TMEM170B MAK ELOVL2 GC06M011208 LOC105374925
GH06J011205 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.3 -377.1 -377127 19.9 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 TMEM170B ENSG00000247925 HIVEP1 NEDD9 MAK GC06M011208 LOC105374925
GH06J011315 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.2 -478.9 -478913 4.4 HDGF FOXA2 ARID4B SIN3A DMAP1 FOS DEK SP5 JUNB ZHX2 TFAP2A-AS1 TMEM170B NEDD9 MAK LOC105374925 GC06M011330
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MAK on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MAK gene promoter:
  • c-Jun
  • ATF-2
  • AP-1
  • AhR
  • SRY
  • RFX1
  • C/EBPbeta
  • Nkx3-1
  • Nkx3-1 v1

Genomic Locations for MAK Gene

Genomic Locations for MAK Gene
chr6:10,762,723-10,838,605
(GRCh38/hg38)
Size:
75,883 bases
Orientation:
Minus strand
chr6:10,762,956-10,838,788
(GRCh37/hg19)
Size:
75,833 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
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    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

Post-translational modifications for MAK Gene

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

No data available for DME Specific Peptides for MAK Gene

Domains & Families for MAK Gene

Gene Families for MAK Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for MAK Gene

Graphical View of Domain Structure for InterPro Entry

P20794

UniProtKB/Swiss-Prot:

MAK_HUMAN :
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
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 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 CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
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

Phenotypes From GWAS Catalog 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,IEA 2183027
GO:0004674 protein serine/threonine kinase activity IEA,IBA --
GO:0005515 protein binding IPI 16951154
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with MAK: view
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:
  • Mak Mak<tm1Yshk>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAK

Clone Products

  • Addgene plasmids for MAK

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 IEA,IDA 21825139
GO:0005634 nucleus IEA,IDA 12084720
GO:0005737 cytoplasm IBA --
GO:0005813 centrosome IDA 21986944
genes like me logo Genes that share ontologies with MAK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MAK Gene

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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006468 protein phosphorylation IEA,IDA 21986944
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis NAS 2183027
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
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MAK

Clone Products

  • Addgene plasmids for MAK

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for MAK Gene



Protein tissue co-expression partners for MAK Gene

NURSA nuclear receptor signaling pathways regulating expression of MAK Gene:

MAK

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.

Evidence on tissue expression from TISSUES for MAK Gene

  • Eye(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MAK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with MAK: view

Orthologs for MAK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MAK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MAK 34 33
  • 99.23 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MAK 34 33
  • 91.1 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MAK 34 33
  • 86.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mak 33
  • 83.49 (n)
mouse
(Mus musculus)
Mammalia Mak 16 34 33
  • 82.4 (n)
oppossum
(Monodelphis domestica)
Mammalia MAK 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MAK 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves MAK 34 33
  • 73.98 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MAK 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mak 33
  • 67.49 (n)
zebrafish
(Danio rerio)
Actinopterygii mak 34 33
  • 60.62 (n)
OneToOne
wufj04c02 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8461 33
fruit fly
(Drosophila melanogaster)
Insecta CG42366 34
  • 33 (a)
OneToMany
CG6800 35
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea M04C9.5 35
  • 68 (a)
dyf-5 34
  • 48 (a)
OneToMany
H01G02.2 35
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IME2 34
  • 22 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MHK 33
  • 61.96 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9989 33
soybean
(Glycine max)
eudicotyledons Gma.1663 33
rice
(Oryza sativa)
Liliopsida Os03g0847600 33
  • 61.77 (n)
Os.7910 33
barley
(Hordeum vulgare)
Liliopsida Hv.3415 33
wheat
(Triticum aestivum)
Liliopsida Ta.7252 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 68 (a)
OneToMany
Species where no ortholog for MAK was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MAK: view image

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 Variation AA Info Type
rs1024798380 uncertain-significance, Retinitis Pigmentosa, Recessive 10,763,105(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs126405 benign, Retinitis Pigmentosa, Recessive 10,764,494(-) A/G coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs145014649 uncertain-significance, not specified, Retinitis Pigmentosa, Recessive 10,796,166(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs147570352 uncertain-significance, Retinitis Pigmentosa, Recessive 10,796,274(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs149006687 uncertain-significance, not specified, Retinitis Pigmentosa, Recessive 10,784,484(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1137064 CNV deletion 24896259
nsv462631 CNV gain 19166990
nsv470800 CNV gain 18288195
nsv5196 CNV insertion 18451855
nsv5197 CNV deletion 18451855
nsv600979 CNV gain 21841781
nsv966670 CNV duplication 23825009

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)

Additional Variant Information for MAK Gene

Human Gene Mutation Database (HGMD)
MAK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MAK

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 62
  • rp62
retinitis pigmentosa
  • retinitis pigmentosa 1
macular dystrophy, dominant cystoid
  • dcmd
prostate cancer
  • prostate cancer, susceptibility to
- 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.

Additional Disease Information for 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 AH … Kung HJ (Cancer research 2006) 2 3 4 22 58
  2. Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/CCDH1. (PMID: 21986944) Wang LY … Kung HJ (Oncogene 2012) 3 4 58
  3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M … Kato S (Investigative ophthalmology & visual science 2011) 3 4 58
  4. 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. (PMID: 21825139) Tucker BA … Stone EM (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 58
  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) Ozgül RK … Corbo JC (American journal of human genetics 2011) 3 4 58

Products for MAK Gene

Sources for MAK Gene

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