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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MAK Gene

protein-coding   GIFtS: 55
GCID: GC06M010820

male germ cell-associated kinase
 Explore 8 diseases affiliated with
MAK via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MAK    

Aliases
for MAK gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Male Germ Cell-Associated Kinase1 2 3     Male Germ Cell-Associated Kinase Retinal-Enriched Isoform2
DJ417M14.21     Serine/Threonine Protein Kinase MAK2
EC 2.7.11.223 8     Serine/Threonine-Protein Kinase MAK2
RP622     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


Summaries
for MAK gene

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

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences 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 plasmid: MAK promoter sequence
   Search SABiosciences Chromatin IP Primers for MAK

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 6q22

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:
 10,838,764 bp from pter
Size:
 75,809 bases      Orientation:
 minus strand

Proteins
for MAK gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Nucleus. Cytoplasm, cytoskeleton, 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
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

Post-translational modifications:

  • Autophosphorylated. Phosphorylated on serine and threonine residues1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20794

    • 4 DME Specific Peptides for MAK (P20794)
     VHGRTDW  PKKRPTA  TRWYRAPE  YSSPIDVWAVG 

    MAK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000313021   ENSP00000346484   ENSP00000442250   ENSP00000442221  

    Human Recombinant Protein Products: 
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    Novus Biologicals MAK Proteins
    Novus Biologicals MAK Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MAK

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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--


    MAK for ontologies           About GeneDecksing



    MAK Antibody Products: 
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    Uscn Antibodies for MAK
    ThermoFisher Antibodies for MAK

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    Uscn ELISAs and CLIAs for MAK

    Protein Domains /
    Families
    for MAK gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MAK for domains           About GeneDecksing

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


    Function
    for MAK gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAK
    8/31 QIAGEN miScript miRNA 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 plasmid: MAK 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAK (see all 7)
    OriGene shRNA RFP: MAK
    OriGene siRNA: MAK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAK

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MAK (see all 6)
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    Search LifeMap BioReagents cell lines for MAK

    In Situ Assay
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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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 kinase activity IEA--
    GO:0005515protein binding IPI--


    MAK for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Maktm1Yshk for MAK
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Mak):
     reproductive system 

    MAK for phenotypes           About GeneDecksing


    Pathways & Interactions
    for MAK gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Coregulation of Androgen receptor activity
    		Coregulation of Androgen receptor activity1.00


    1 BioSystems Pathway for MAK 
        Coregulation of Androgen receptor activity


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MAK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for MAK (P207941 ENSP000003130214) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102751, ENSP000003638224EBI-3911321,EBI-608057 STRING: ENSP00000363822
    FZR1Q9UM111, ENSP000003785294EBI-3911321,EBI-2558941 STRING: ENSP00000378529
    NCOA3ENSP000003610664STRING: ENSP00000361066
    CDK20ENSP000003223434STRING: ENSP00000322343
    CDH1ENSP000002617694STRING: ENSP00000261769
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

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


    MAK for ontologies           About GeneDecksing



    Drugs & Compounds
    for MAK gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--
    Search CenterWatch for drugs/clinical trials and news about MAK 

    Transcripts
    for MAK gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MAK
    8/31 QIAGEN miScript miRNA 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 plasmid: MAK 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MAK (see all 7)
    OriGene shRNA RFP: MAK
    OriGene siRNA: MAK
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MAK
    Clone
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    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MAK
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MAK
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MAK

    Additional cDNA 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 

    24/57 AceView cDNA sequences (see all 57):

    BM709886 BU733728 BX105286 BQ639003 BC033002 BU729587 NM_005906 BM702638 
    BX955062 BC039825 AK097831 AF505623 BM713609 BP351687 AI015438 BQ012481 
    AI138938 BF508943 BU730025 CD299900 AA059211 BX645973 CK300055 AI868638 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for MAK gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MAK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGCTGACCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    MAK expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See MAK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MAK

    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

        SABiosciences Custom PCR Arrays for MAK
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    In Situ
    Assay Products:     
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    Orthologs
    for MAK gene

    (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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MAK gene from 7/30 species (see all 30)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves MAK1 male germ cell-associated kinase 73.36(n)
    73.57(a)    		   420859  XM_418948.3  XP_418948.2 
    lizard
    (Anolis carolinensis)    		 Reptilia MAK6
    		 --
    		 69(a)
    		 1 ↔ 1
    		 GL343209.1(2593160-2616404)
    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
    dyf-51    		 serine/threonine kinase (CDC2/CDKX
    subfamily)3
    Protein DYF-51    		 68(a)
    (best of 2)3
    63.19(n)1
    61.45(a)1    		   I(9367904-9370983)3
    1874421  NM_001136314.11  NP_001129786.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons MHK1 serine/threonine-protein kinase MHK 61.29(n)
    56.49(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
    for MAK gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MAK gene
    CDKL12  CDKL22  CDKL52  MOK2  CDKL32  CDKL42  ICK2  
    18/58 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

    MAK for paralogs           About GeneDecksing



    Genomic Variants
    for MAK gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1375 NCBI SNPs in MAK are shown (see all 1375)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1154508641,2
    		--10762498(+) AGGGGC/TAGATG 3 -- ds50011Minor allele frequency- T:0.01WA 118
    rs598334051,2
    		C--10762565(+) TTTTA-/TTTTTT 3 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1918851001,2
    		--10762584(+) AGACAC/GAGTCT 3 -- ds50010--------
    rs576440071,2
    		--10762680(+) TCAGCC/TGCCCA 3 -- ds50010--------
    rs1851894551,2
    		--10762726(+) AGCTAA/CTTTTT 3 -- ds50010--------
    rs2011243671,2
    		--10762752(+) AGACA-/GGGTTT 3 -- ds50010--------
    rs5000261,2
    		C,F,A,--10762774(+) CCAGGT/CTGGTC 3 -- ds50016Minor allele frequency- C:0.25NA WA 12
    rs5019481,2
    		C,F,O,A,H,--10762997(+) AAAGTT/GTCCCA 3 -- ut31 ese326Minor allele frequency- G:0.11MN NS EA NA WA CSA 2536
    rs1900683891,2
    		--10763073(+) ACTAGA/GATAAA 3 -- ut310--------
    rs1495350921,2
    		--10763202(+) TATTAC/TAATAG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for MAK (10762956 - 10838764 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MAK: --
    Human Gene Mutation Database (HGMD): MAK

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MAK
    DNA2.0 Custom Variant and Variant Library Synthesis for MAK

    Disorders / Diseases
    for MAK gene

    (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
    MAK for disorders           About GeneDecksing

    OMIM gene information: 154235    OMIM disorders: --

    UniProtKB/Swiss-Prot: MAK_HUMAN, P20794
  • Defects in MAK are the cause of retinitis pigmentosa type 62 (RP62) [MIM:614181]. RP62 is 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

    8 diseases for MAK:    About MalaCards
    retinitis    pigmentary retinopathy    retinitis pigmentosa    blindness
    prostate cancer    prostatitis    malaria    neuronitis

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

    Export disorders for MAK gene to outside databases

    Publications
    for MAK gene

    (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

    PubMed articles for MAK gene, integrated from 9 sources (see all 23):
    (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. (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. (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. (2011)
    4. Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MA K) as a cause of retinitis pigmentosa. (PubMed id 21825139)1, 2 Tucker B.A....Stone E.M. (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. (2011)
    6. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (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. (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. (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. (2006)
    10. Autosomal recessive retinitis pigmentosa caused by mut ations in the MAK gene. (PubMed id 22110072)1 Stone E.M....Jacobson S.G. (2011)

    External Searches for MAK gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing MAK gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4117 HGNC: 6816 AceView: MAK Ensembl:ENSG00000111837 euGenes: HUgn4117
    ECgene: MAK H-InvDB: MAK

    Other Databases showing MAK gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MAK gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MAK Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for MAK gene

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



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