Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MAK Gene

protein-coding   GIFtS: 57
GCID: GC06M010820

Male Germ Cell-Associated Kinase

  See MAK-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Male Germ Cell-Associated Kinase1 2 3     Male Germ Cell-Associated Kinase Retinal-Enriched Isoform2
EC 2.7.11.223 8     Serine/Threonine Protein Kinase MAK2
RP622 5     Serine/Threonine-Protein Kinase MAK2
dJ417M14.22     EC 2.7.118

External Ids:    HGNC: 68161   Entrez Gene: 41172   Ensembl: ENSG000001118377   OMIM: 1542355   UniProtKB: P207943   

Export aliases for MAK gene to outside databases

Previous GC identifers: GC06M010870 GC06M010638


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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. 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: MAK_HUMAN, P20794
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

Gene Wiki entry for MAK Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MAK gene promoter:
         Nkx3-1   AhR   C/EBPbeta   RFX1   AP-1   ATF-2   Nkx3-1 v1   SRY   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMAK promoter sequence
   Search Chromatin IP Primers for MAK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p24   Ensembl cytogenetic band:  6p24.2   HGNC cytogenetic band: 6p24.2

MAK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MAK gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M010820:  view genomic region     (about GC identifiers)

Start:
10,762,956 bp from pter      End:
10,838,788 bp from pter
Size:
75,833 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MAK_HUMAN, P20794 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase MAK  
Size: 623 amino acids; 70581 Da
Subunit: 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)
Secondary accessions: F1T0K6 G1FL29 Q547D0 Q9NUH7
Alternative splicing: 3 isoforms:  P20794-1   P20794-2   P20794-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MAK: NX_P20794

Explore proteomics data for MAK at MOPED

Post-translational modifications: 

  • Autophosphorylated. Phosphorylated on serine and threonine residues1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for MAK (P20794)
     VHGRTDW  PKKRPTA  TRWYRAPE  YSSPIDVWAVG 


    See MAK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001229314.1  NP_001229886.1  NP_005897.1  

    ENSEMBL proteins: 
     ENSP00000313021   ENSP00000476067   ENSP00000346484   ENSP00000442250   ENSP00000442221  

    MAK Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MAK
    GenScript Custom Purified and Recombinant Proteins Services for MAK
    Novus Biologicals MAK Proteins
    Novus Biologicals MAK Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MAK

     
    Search eBioscience for Proteins for MAK 

    MAK Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MAK
    OriGene Custom Antibody Services for MAK
    Novus Biologicals MAK Antibodies
    Abcam antibodies for MAK
    Cloud-Clone Corp. Antibodies for MAK
    ThermoFisher Antibodies for MAK
    LSBio Antibodies in human, mouse, rat for MAK

    MAK Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MAK
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MAK
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MAK
    Cloud-Clone Corp. CLIAs for MAK
    Search eBioscience for ELISAs for MAK 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    IUPHAR Guide to PHARMACOLOGY protein family classification: male germ cell-associated kinase
    RCK family

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry P20794

    ProtoNet protein and cluster: P20794

    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
    Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with MAK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MAK_HUMAN, P20794
    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
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    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): EC 2.7.11.221 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA16951154
    GO:0004672protein kinase activity NAS2183027
    GO:0004674protein serine/threonine kinase activity ----
    GO:0004693cyclin-dependent protein serine/threonine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ----
         
    Find genes that share ontologies with MAK           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MAK:
     Decreased 12E8 tau but not tot  Increased cell death HMECs cel 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mak):
     reproductive system 

    Find genes that share phenotypes with MAK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Maktm1Yshk for MAK

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAK
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAK

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MAK
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MAK

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MAK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAK (see all 31):
    hsa-miR-4291 hsa-miR-520d-5p hsa-miR-15a hsa-miR-4272 hsa-miR-1271 hsa-miR-520a-5p hsa-miR-421 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidMAK 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MAK
    Predesigned siRNA for gene silencing in human, mouse, rat MAK

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MAK

    Clone
    Products:
         
    OriGene clones in human, mouse for MAK (see all 10)
    OriGene ORF clones in mouse, rat for MAK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAK (NM_005906)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAK
    Addgene plasmids for MAK 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MAK
    Browse ESI BIO Cell Lines and PureStem Progenitors for MAK 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAK


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MAK_HUMAN, P20794: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm,
    cytoskeleton, spindle. Midbody. Cell projection, cilium, photoreceptor outer segment (By similarity).
    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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment ISS--
    GO:0001917photoreceptor inner segment IDA--
    GO:0005634nucleus IDA12084720
    GO:0005737cytoplasm IEA--
    GO:0005813centrosome IDA--

    Find genes that share ontologies with MAK           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MAK About    
    See pathways by source

    SuperPathContained pathways About
    1Coregulation of Androgen receptor activity
    Coregulation of Androgen receptor activity


    1 BioSystems Pathway for MAK
        Coregulation of Androgen receptor activity


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MAK
    Interactions:

        Search GeneGlobe Interaction Network for MAK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MAK (P207941 ENSP000003130214) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FZR1Q9UM111, ENSP000003785294EBI-3911321,EBI-724997 STRING: ENSP00000378529
    ARP102751, ENSP000003638224EBI-3911321,EBI-608057 STRING: ENSP00000363822
    NCOA3ENSP000003610664STRING: ENSP00000361066
    CDK20ENSP000003223434STRING: ENSP00000322343
    CDH1ENSP000002617694STRING: ENSP00000261769
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0006468protein phosphorylation IDA--
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis NAS2183027

    Find genes that share ontologies with MAK           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MAK

    2 HMDB Compounds for MAK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MAK gene (3 alternative transcripts): 
    NM_001242385.1  NM_001242957.1  NM_005906.4  

    Unigene Cluster for MAK:

    Male germ cell-associated kinase
    Hs.446125  [show with all ESTs]
    Unigene Representative Sequence: NM_001242957
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313243(uc010jou.3) ENST00000474039(uc021ylk.1 uc003mzm.3 uc021yll.1)
    ENST00000354489(uc010jot.3) ENST00000538030 ENST00000536370(uc010jov.2 uc021ylm.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MAK using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MAK (see all 31):
    hsa-miR-4291 hsa-miR-520d-5p hsa-miR-15a hsa-miR-4272 hsa-miR-1271 hsa-miR-520a-5p hsa-miR-421 hsa-miR-144
    SwitchGear 3'UTR luciferase reporter plasmidMAK 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MAK
    Predesigned siRNA for gene silencing in human, mouse, rat MAK
    Clone
    Products:
         
    OriGene clones in human, mouse for MAK (see all 10)
    OriGene ORF clones in mouse, rat for MAK
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MAK (NM_005906)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MAK
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAK
    Addgene plasmids for MAK 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for MAK
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAK
      QuantiTect SYBR Green Assays in human, mouse, rat MAK
      QuantiFast Probe-based Assays in human, mouse, rat MAK

    Additional mRNA sequence: 

    AB593146.1 AF505623.1 AK097831.1 AK310329.1 AK314408.1 BC033002.1 BC039825.1 JN135248.1 
    JN226411.1 

    9 DOTS entries:

    DT.104633  DT.121397478  DT.95309194  DT.100020488  DT.121397386  DT.307271  DT.121397352  DT.437232 
    DT.40304703 

    Selected AceView cDNA sequences (see all 57):

    BC033002 AK097831 BX955062 BM709886 NM_005906 BU733728 BX105286 BC039825 
    BU729587 BQ639003 AF505623 BM702638 BM978645 BP351687 CK300055 AI868638 
    AI200150 CD299900 AA812897 BQ186981 BU730025 BU676653 AA059211 AI470787 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MAK (see all 7)    About this scheme

    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:        -                                                                                                                           


    ECgene alternative splicing isoforms for MAK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MAK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTGACCA
    MAK Expression
    About this image


    MAK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Eye (Sensory Organs)
             Retina
    MAK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MAK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.446125

    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
    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

        Custom PCR Arrays for MAK
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for MAK
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAK
    QuantiTect SYBR Green Assays in human, mouse, rat MAK
    QuantiFast Probe-based Assays in human, mouse, rat MAK
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAK gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mak1 , 5 male germ cell-associated kinase1, 5 82.4(n)1
    83.9(a)1
      13 (20.25 cM)5
    171521  NM_001145803.11  NP_001139275.11 
     410251205 
    chicken
    (Gallus gallus)
    Aves MAK1 male germ cell-associated kinase 73.98(n)
    73.67(a)
      420859  XM_418948.4  XP_418948.3 
    lizard
    (Anolis carolinensis)
    Reptilia MAK6
    male germ cell-associated kinase
    66(a)
    1 ↔ 1
    GL343209.1(2593160-2629247)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mak1 male germ cell-associated kinase 67.49(n)
    68.26(a)
      780268  NM_001079339.1  NP_001072807.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj04c022 wufj04c02 76.42(n)   335339  BC052126.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG68003 protein amino acid phosphorylation
    protein serine/threonine more
    33(a)   93F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea M04C9.53 serine/threonine kinase (CDC2/CDKX
    subfamily)
    68(a)
    (best of 2)
      I(9367904-9370983)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IME26
    Serine/threonine protein kinase involved in activa...
    22(a)
    1 → many
    X(221390-223327) YJL106W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MHK1 MHK 61.96(n)
    57.95(a)
      826915  NM_001203783.1  NP_001190712.1 
    rice
    (Oryza sativa)
    Liliopsida Os.79102 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.14(n)    AK069526.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for MAK gene
    MOK2  ICK2  
    Selected SIMAP similar genes for MAK using alignment to 4 protein entries:     MAK_HUMAN (see all proteins) (see all similar genes):
    ICK    CDC2    CDK1    DKFZp564L2416    DKFZp686L20222    CDK3
    CDK5    CDC2L2    CDK11A    CDK15    CDKL3    CDKL1
    CDC2L1    CCRK    CDK11B    DKFZp686D0638    GSK3A    MOK

    Find genes that share paralogs with MAK           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MAK (see all 1663)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0669914
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669912 R H mis40--------
    VAR_0669894
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669892 G R mis40--------
    VAR_0669884
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669882 G S mis40--------
    VAR_0420074
    A breast infiltrating ductal carcinoma sample4--see VAR_0420072 R P mis40--------
    VAR_0669924
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669922 I T mis40--------
    VAR_0669904
    Retinitis pigmentosa 62 (RP62)4--see VAR_0669902 N H mis40--------
    rs1154508641,2
    C,F--10685990(+) AGGGGC/TAGATG 3 -- ds50011Minor allele frequency- T:0.01WA 118
    rs598334051,2
    C--10686057(+) TTTTA-/TTTTTT 3 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1918851001,2
    --10686076(+) AGACAC/GAGTCT 3 -- ds50010--------
    rs576440071,2
    C--10686172(+) TCAGCC/TGCCCA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for MAK (10762956 - 10838788 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MAK:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5196CNV Insertion18451855
    nsv5197CNV Loss18451855
    nsv462631CNV Gain19166990
    nsv470800CNV Gain18288195

    Human Gene Mutation Database (HGMD): MAK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MAK
    DNA2.0 Custom Variant and Variant Library Synthesis for MAK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 154235   
    OMIM disorders: 614181  
    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
  • 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 3 diseases for MAK:    
    About MalaCards
    retinitis pigmentosa 62    mak-related retinitis pigmentosa    leber congenital amaurosis

    1 disease from the University of Copenhagen DISEASES database for MAK:
    Retinitis pigmentosa

    Find genes that share disorders with MAK           About GenesLikeMe

    Genetic Association Database (GAD): MAK

    Export disorders for MAK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for MAK gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with MAK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Male germ cell-associated kinase, a male-specific kinase regulated by androgen, is a coactivator of androgen receptor in prostate cancer cells. (PubMed id 16951154)1, 2, 3, 9 Ma A.H.... Kung H.J. (Cancer Res. 2006)
    2. Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/C(CDH1). (PubMed id 21986944)1, 2 Wang L.Y. and Kung H.J. (Oncogene 2012)
    3. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
    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. (PubMed id 21825139)1, 2 Tucker B.A.... Stone E.M. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    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. (PubMed id 21835304)1, 2 Ozgul R.K.... Corbo J.C. (Am. J. Hum. Genet. 2011)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    7. Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells. (PubMed id 12084720)1, 2 Xia L.... Kung H.J. (J. Biol. Chem. 2002)
    8. A novel mammalian protein kinase gene (mak) is highly expressed in testicular germ cells at and after meiosis. (PubMed id 2183027)1, 2 Matsushime H.... Shibuya M. (Mol. Cell. Biol. 1990)
    9. Identification of yin-yang regulators and a phosphorylation consensus for male germ cell-associated kinase (MAK)-related kinase. (PubMed id 16954377)1, 9 Fu Z....Sturgill T.W. (Mol. Cell. Biol. 2006)
    10. CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner. (PubMed id 23743448)1 Yang Y....MAokelAo T.P. (EMBO Rep. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 4117 HGNC: 6816 AceView: MAK Ensembl:ENSG00000111837 euGenes: HUgn4117
    ECgene: MAK H-InvDB: MAK

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MAK Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MAK gene:
    Search GeneIP for patents involving MAK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MAK   OriGene RNAi products in human, mouse, rat for MAK  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MAK  
     OriGene qSTAR qPCR primer pairs in human, mouse for MAK   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MAK   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MAK   OriGene Custom Protein Services for MAK  

     
     
     Block miRNA regulation of human, mouse, rat MAK using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MAK
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MAK Predesigned siRNA for gene silencing in human, mouse, rat MAK
     QuantiFast Probe-based Assays in human, mouse, rat MAK QuantiTect SYBR Green Assays in human, mouse, rat MAK
     Custom PCR Arrays for MAK Search Chromatin IP Primers for MAK
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MAK  Search GeneGlobe Interaction Network for MAK
     Regulatory tfbs in MAK promoter
     GenScript Custom Purified and Recombinant Proteins Services for MAK GenScript cDNA clones with any tag delivered in your preferred vector for MAK
     GenScript Custom Assay Services for MAK GenScript Custom overexpressing Cell Line Services for MAK
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MAK
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MAK antibodies
     MAK proteins
     MAK lysates
     Antibodies for MAK
     See all of Abcam's Antibodies, Kits and Proteins for MAK
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MAK
     Antibodies for MAK
     ELISAs for MAK
     CLIAs for MAK



     Browse ESI BIO Cell Lines and PureStem Progenitors for MAK
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MAK
     SwitchGear 3'UTR luciferase reporter plasmids for MAK
     SwitchGear Promoter luciferase reporter plasmids for MAK
     ThermoFisher Antibodies for MAK
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MAK
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MAK
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MAK
     LSBio Antibodies in human, mouse, rat for MAK
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Addgene plasmids for MAK
      Search eBioscience for proteins for MAK
      Search eBioscience for elisas for MAK
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MAK gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4