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

    Gene ID: 17152, updated on 4-Jan-2025

    Summary

    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
    Predicted to enable protein serine/threonine kinase activity and transcription coactivator activity. Involved in photoreceptor cell maintenance. Acts upstream of or within negative regulation of non-motile cilium assembly. Located in axoneme; motile cilium; 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, Jan 2025]
    Expression
    Biased expression in testis adult (RPKM 30.2) and lung adult (RPKM 1.2) See more
    Orthologs
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    Genomic context

    See Mak in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 27
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding  
    enables DNA-dependent protein kinase activity  
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables metal ion binding  
    enables protein binding PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity  
    enables ribosomal protein S6 kinase activity  
    enables transcription coactivator activity  
    enables transcription coactivator activity  
    Items 1 - 25 of 27
    Process Evidence Code Pubs
    involved_in chromatin remodeling  
    involved_in cilium assembly  
    involved_in intracellular signal transduction  
    involved_in intraciliary transport  
    acts_upstream_of_or_within negative regulation of non-motile cilium assembly PubMed 
    acts_upstream_of non-motile cilium assembly PubMed 
    acts_upstream_of_or_within photoreceptor cell maintenance PubMed 
    involved_in photoreceptor cell maintenance PubMed 
    involved_in positive regulation of DNA-templated transcription  
    involved_in protein autophosphorylation  
    involved_in protein autophosphorylation  
    involved_in protein phosphorylation  
    involved_in protein phosphorylation  
    Component Evidence Code Pubs
    located_in axoneme PubMed 
    located_in centrosome  
    located_in centrosome  
    is_active_in cilium  
    is_active_in cytoplasm  
    located_in midbody  
    located_in midbody  
    located_in mitotic spindle  
    located_in mitotic spindle  
    located_in motile cilium PubMed 
    is_active_in nucleus  
    located_in nucleus  
    located_in nucleus  
    located_in photoreceptor connecting cilium PubMed 
    located_in photoreceptor inner segment  
    located_in photoreceptor inner segment  
    located_in photoreceptor outer segment PubMed 

    General protein information

    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)

    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_001145802.1NP_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:281337
      PHA03247; large tegument protein UL36; Provisional
      cd07830
      Location:4253
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    2. NM_001145803.1NP_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:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    3. NM_008547.2NP_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:4284
      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_006516873.3XP_006516936.1  serine/threonine-protein kinase MAK isoform X6

      Conserved Domains (1) summary
      cd07830
      Location:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    2. XM_006516872.3XP_006516935.1  serine/threonine-protein kinase MAK isoform X5

      UniProtKB/TrEMBL
      A0A286YD80
      Related
      ENSMUSP00000153314.2, ENSMUST00000224740.2
      Conserved Domains (1) summary
      cd07830
      Location:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    3. XM_006516871.3XP_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:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    4. XM_006516870.3XP_006516933.1  serine/threonine-protein kinase MAK isoform X3

      Conserved Domains (1) summary
      cd07830
      Location:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    5. XM_006516868.3XP_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:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    6. XM_036157885.1XP_036013778.1  serine/threonine-protein kinase MAK isoform X5

      UniProtKB/TrEMBL
      A0A286YD80
      Conserved Domains (1) summary
      cd07830
      Location:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    7. XM_036157884.1XP_036013777.1  serine/threonine-protein kinase MAK isoform X4

      UniProtKB/Swiss-Prot
      E9Q4B2, E9QAU5, E9QKR3, Q04859, Q8CDL5
      Conserved Domains (1) summary
      cd07830
      Location:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    8. XM_036157883.1XP_036013776.1  serine/threonine-protein kinase MAK isoform X2

      Related
      ENSMUSP00000152946.2, ENSMUST00000225084.2
      Conserved Domains (1) summary
      cd07830
      Location:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
    9. XM_006516869.2XP_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:4284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases
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