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    Mak male germ cell-associated kinase [ Mus musculus (house mouse) ]

    Gene ID: 17152, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Makprovided by MGI
    Official Full Name
    male germ cell-associated kinaseprovided by MGI
    Primary source
    MGI:MGI:96913
    See related
    Ensembl:ENSMUSG00000021363 AllianceGenome:MGI:96913
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    A930010O05Rik
    Summary
    Enables protein kinase activity. Acts upstream of or within negative regulation of non-motile cilium assembly and photoreceptor cell maintenance. Located in several cellular components, including axoneme; ciliary tip; and photoreceptor cell cilium. Is expressed in several structures, including brain; nasal cavity epithelium; neural retina; respiratory system; and testis. Human ortholog(s) of this gene implicated in retinitis pigmentosa 62. Orthologous to human MAK (male germ cell associated kinase). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 30.2) and lung adult (RPKM 1.2) See more
    Orthologs
    human all
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    Genomic context

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    Location:
    13 A3.3; 13 20.25 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (41178483..41233182, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (41025007..41079706, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA A730081D07 gene Neighboring gene STARR-positive B cell enhancer ABC_E11542 Neighboring gene PAK1 interacting protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E9874 Neighboring gene transmembrane protein 14C Neighboring gene glial cells missing homolog 2 Neighboring gene synaptonemal complex protein 2-like Neighboring gene STARR-seq mESC enhancer starr_34300

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. A testicular germ cell-associated serine-threonine kinase, MAK, is dispensable for sperm formation. Shinkai Y, et al. Mol Cell Biol, 2002 May. PMID 11971961, Free PMC Article
    2. In situ localization of male germ cell-associated kinase (mak) mRNA in adult mouse testis: specific expression in germ cells at stages around meiotic cell division. Koji T, et al. Cell Biochem Funct, 1992 Dec. PMID 1473268
    3. Identification of human male germ cell-associated kinase, a kinase transcriptionally activated by androgen in prostate cancer cells. Xia L, et al. J Biol Chem, 2002 Sep 20. PMID 12084720
    4. Characterization and expression analysis of the murine rck gene: a protein kinase with a potential function in sensory cells. Bladt F, et al. Differentiation, 1993 Jun. PMID 8359591
    5. Mouse Mak gene for male germ cell-associated kinase maps to chromosome 13. Taketo M, et al. Genomics, 1994 Jan 15. PMID 8188277

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. the expressions of ICK/MAK/MOK proteins in the intestinal tract can be differentially and dynamically regulated, implicating a significant functional diversity within this group of protein kinases.
      Title: Distinct expression patterns of ICK/MAK/MOK protein kinases in the intestine implicate functional diversity.
    2. Results suggest that Mak is essential for the regulation of ciliary length and is required for the long-term survival of photoreceptors.
      Title: Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival.
    3. data show that function of MAK is not essential for spermatogenesis and male fertility.
      Title: A testicular germ cell-associated serine-threonine kinase, MAK, is dispensable for sperm formation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intraciliary transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein autophosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in midbody ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    serine/threonine-protein kinase MAK
    Names
    protein kinase RCK
    NP_001139274.1
    NP_001139275.1
    NP_032573.2
    XP_006516931.1
    XP_006516932.1
    XP_006516933.1
    XP_006516934.1
    XP_006516935.1
    XP_006516936.1
    XP_036013776.1
    XP_036013777.1
    XP_036013778.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145802.1 → NP_001139274.1  serine/threonine-protein kinase MAK isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate segment and uses a different splice site, compared to variant 1. The resulting protein (isoform 3) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC133496, AK029894, AK044399
      Consensus CDS
      CCDS49244.1
      UniProtKB/Swiss-Prot
      Q04859
      Related
      ENSMUSP00000064750.7, ENSMUST00000070193.14
      Conserved Domains (2) summary
      PHA03247
      Location:281 → 337
      PHA03247; large tegument protein UL36; Provisional
      cd07830
      Location:4 → 253
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    2. NM_001145803.1 → NP_001139275.1  serine/threonine-protein kinase MAK isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AC133496, AK044399, BQ930470
      Consensus CDS
      CCDS49245.1
      UniProtKB/Swiss-Prot
      Q04859
      Related
      ENSMUSP00000129615.2, ENSMUST00000165087.8
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    3. NM_008547.2 → NP_032573.2  serine/threonine-protein kinase MAK isoform 2

      See identical proteins and their annotated locations for NP_032573.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 5' UTR and has multiple differences in the CDS, compared to variant 1. The resulting protein (isoform 2) is shorter and lacks internal sequence segments when it is compared to isoform 2.
      Source sequence(s)
      AC133496, AK044399, X66983
      Consensus CDS
      CCDS26471.1
      UniProtKB/Swiss-Prot
      E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5
      Related
      ENSMUSP00000021792.5, ENSMUST00000021792.5
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      41178483..41233182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516873.3 → XP_006516936.1  serine/threonine-protein kinase MAK isoform X6

      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    2. XM_006516872.3 → XP_006516935.1  serine/threonine-protein kinase MAK isoform X5

      UniProtKB/TrEMBL
      A0A286YD80
      Related
      ENSMUSP00000153314.2, ENSMUST00000224740.2
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    3. XM_006516871.3 → XP_006516934.1  serine/threonine-protein kinase MAK isoform X4

      See identical proteins and their annotated locations for XP_006516934.1

      UniProtKB/Swiss-Prot
      E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    4. XM_006516870.3 → XP_006516933.1  serine/threonine-protein kinase MAK isoform X3

      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    5. XM_006516868.3 → XP_006516931.1  serine/threonine-protein kinase MAK isoform X1

      See identical proteins and their annotated locations for XP_006516931.1

      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    6. XM_036157885.1 → XP_036013778.1  serine/threonine-protein kinase MAK isoform X5

      UniProtKB/TrEMBL
      A0A286YD80
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    7. XM_036157884.1 → XP_036013777.1  serine/threonine-protein kinase MAK isoform X4

      UniProtKB/Swiss-Prot
      E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    8. XM_036157883.1 → XP_036013776.1  serine/threonine-protein kinase MAK isoform X2

      Related
      ENSMUSP00000152946.2, ENSMUST00000225084.2
      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    9. XM_006516869.2 → XP_006516932.1  serine/threonine-protein kinase MAK isoform X1

      See identical proteins and their annotated locations for XP_006516932.1

      Conserved Domains (1) summary
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q04859.2 GenPept UniProtKB/Swiss-Prot:Q04859

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