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    MAK male germ cell associated kinase [ Homo sapiens (human) ]

    Gene ID: 4117, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MAKprovided by HGNC
    Official Full Name
    male germ cell associated kinaseprovided by HGNC
    Primary source
    HGNC:HGNC:6816
    See related
    Ensembl:ENSG00000111837 MIM:154235; AllianceGenome:HGNC:6816
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP62
    Summary
    The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in testis (RPKM 3.9), lung (RPKM 0.4) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p24.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (10762723..10838539, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (10630425..10706179, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (10762956..10838772, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23972 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10747832-10748052 Neighboring gene TMEM14B divergent transcript Neighboring gene RNA, 5S ribosomal pseudogene 203 Neighboring gene transmembrane protein 14B Neighboring gene ReSE screen-validated silencer GRCh37_chr6:10814688-10814873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23974 Neighboring gene Sharpr-MPRA regulatory region 8043 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:10886452-10887220 Neighboring gene glial cells missing transcription factor 2 Neighboring gene synaptonemal complex protein 2 like Neighboring gene uncharacterized LOC101928191

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene. Gray JM, et al. Ophthalmic Genet, 2018 Aug. PMID 29781741
    2. Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene. Lai YH, et al. Ophthalmic Genet, 2016 Dec. PMID 26894652
    3. Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa. Bujakowska KM, et al. PLoS One, 2015. PMID 26558903, Free PMC Article
    4. Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features. van Huet RA, et al. Acta Ophthalmol, 2015 Feb. PMID 25385675
    5. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Stone EM, et al. Invest Ophthalmol Vis Sci, 2011 Dec 28. PMID 22110072, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The clinical data show that in general, patients with biallelic MAK mutations had a later age of onset and a milder retinal phenotype compared with patients with biallelic DHDDS mutations.
      Title: Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.
    2. The natural history of this individual's retinitis pigmentosa (RP) is consistent with previously described MAK mutations, being significantly milder than that associated with other photoreceptor ciliopathies. We suggest inclusion of MAK as part of wider genetic testing in all individuals presenting with RP.
      Title: Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.
    3. We report the first case of leaking intraretinal cystoid spaces due to mutation in MAK. Mak regulates microtubule stability via phosphorylating RP1. Abnormal Mak may impact retinal photoreceptor ciliary length and subcompartmentalization.
      Title: Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.
    4. One patient was homozygous for the insertion, one compound heterozygous with a missense change on the other allele (c. 46G>A; p.Gly16Arg), and three were heterozygous carriers.
      Title: Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.
    5. We identified the MAK and DHDDS mutations homozygously in only 2.1% and 0.8%, respectively, of patients of mixed ethnicity, but in 25.7% and 8.6%, respectively, of cases reporting Jewish ancestry
      Title: Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.
    6. Nonsense and missense mutations in MAK give rise to a non-syndromic recessive RP phenotype without apparent extra-ocular features.
      Title: Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
    7. 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.
    8. In glioblastoma cells with deregulated high levels of CCRK, its depletion restores cilia through ICK and an ICK-related kinase MAK, thereby inhibiting glioblastoma cell proliferation.
      Title: CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.
    9. these data implicate MAK in both adrogen receptor activation and chromosomal instability, acting in both early and late prostate cancer development.
      Title: Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/CCDH1.
    10. The patterns of disease expression in the MAK form of arRP showed some resemblance to patterns described in autosomal dominant RP, especially the form caused by RP1 mutations.
      Title: Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Retinitis pigmentosa 62
    MedGen: C3280042 OMIM: 614181 GeneReviews: Nonsyndromic Retinitis Pigmentosa Overview
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    involved_in negative regulation of non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in non-motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in photoreceptor cell maintenance ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein autophosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in axoneme IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 midbody IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor connecting cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase MAK
    Names
    serine/threonine protein kinase MAK
    testicular secretory protein Li 28
    NP_001229314.1
    NP_001229886.1
    NP_001364191.1
    NP_005897.1
    XP_011512921.1
    XP_011512922.1
    XP_011512924.1
    XP_011512926.1
    XP_047274730.1
    XP_054211408.1
    XP_054211409.1
    XP_054211410.1
    XP_054211411.1
    XP_054211412.1
    XP_054211413.1
    XP_054211414.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_030040.1 RefSeqGene

      Range
      5017..80833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001242385.2 → NP_001229314.1  serine/threonine-protein kinase MAK isoform 2

      See identical proteins and their annotated locations for NP_001229314.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents a longer 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AB593146, BM704130, BP246863
      Consensus CDS
      CCDS75398.1
      UniProtKB/Swiss-Prot
      P20794
      Related
      ENSP00000442221.2, ENST00000536370.6
      Conserved Domains (2) summary
      smart00220
      Location:4 → 284
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    2. NM_001242957.3 → NP_001229886.1  serine/threonine-protein kinase MAK isoform 3

      See identical proteins and their annotated locations for NP_001229886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon compared to variant 1. The encoded isoform (3) is longer than isoform 1.
      Source sequence(s)
      AL024498
      Consensus CDS
      CCDS75399.1
      UniProtKB/Swiss-Prot
      P20794
      UniProtKB/TrEMBL
      F8VBW7
      Related
      ENSP00000346484.3, ENST00000354489.7
      Conserved Domains (2) summary
      smart00220
      Location:4 → 284
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    3. NM_001377262.1 → NP_001364191.1  serine/threonine-protein kinase MAK isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL024498
      Consensus CDS
      CCDS93855.1
      UniProtKB/TrEMBL
      A0A6Q8PG01
      Related
      ENSP00000502045.1, ENST00000676116.1
      Conserved Domains (1) summary
      cd07830
      Location:1 → 250
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    4. NM_005906.6 → NP_005897.1  serine/threonine-protein kinase MAK isoform 1

      See identical proteins and their annotated locations for NP_005897.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL024498
      Consensus CDS
      CCDS4516.1
      UniProtKB/Swiss-Prot
      F1T0K6, G1FL29, P20794, Q547D0, Q9NUH7
      UniProtKB/TrEMBL
      A0A140VK28
      Related
      ENSP00000476067.1, ENST00000474039.5
      Conserved Domains (2) summary
      smart00220
      Location:4 → 284
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    RNA

    1. NR_134935.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an additional exon at the 5' end and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB593146, AL024498, BC039825, BM704130, DB082719

    2. NR_134936.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional exon at the 5' end and contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB593146, AK314408, AL024498, BM704130

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      10762723..10838539 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514622.4 → XP_011512924.1  serine/threonine-protein kinase MAK isoform X2

      See identical proteins and their annotated locations for XP_011512924.1

      UniProtKB/Swiss-Prot
      P20794
      Conserved Domains (2) summary
      smart00220
      Location:4 → 284
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    2. XM_011514619.3 → XP_011512921.1  serine/threonine-protein kinase MAK isoform X1

      See identical proteins and their annotated locations for XP_011512921.1

      UniProtKB/Swiss-Prot
      P20794
      Conserved Domains (2) summary
      smart00220
      Location:4 → 284
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    3. XM_011514620.3 → XP_011512922.1  serine/threonine-protein kinase MAK isoform X1

      See identical proteins and their annotated locations for XP_011512922.1

      UniProtKB/Swiss-Prot
      P20794
      Conserved Domains (2) summary
      smart00220
      Location:4 → 284
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cd07830
      Location:4 → 284
      STKc_MAK_like; Catalytic domain of Male germ cell-Associated Kinase-like Serine/Threonine Kinases

    4. XM_011514624.3 → XP_011512926.1  serine/threonine-protein kinase MAK isoform X4

      Conserved Domains (1) summary
      cl21453
      Location:1 → 24
      PKc_like; Protein Kinases, catalytic domain

    5. XM_047418774.1 → XP_047274730.1  serine/threonine-protein kinase MAK isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PH30
      Related
      ENSP00000502542.1, ENST00000675026.1

    RNA

    1. XR_926215.4 RNA Sequence

    2. XR_926220.4 RNA Sequence

    3. XR_001743419.3 RNA Sequence

    4. XR_007059266.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      10630425..10706179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355435.1 → XP_054211410.1  serine/threonine-protein kinase MAK isoform X2

    2. XM_054355433.1 → XP_054211408.1  serine/threonine-protein kinase MAK isoform X1

    3. XM_054355434.1 → XP_054211409.1  serine/threonine-protein kinase MAK isoform X1

    4. XM_054355437.1 → XP_054211412.1  serine/threonine-protein kinase MAK isoform X5

    5. XM_054355439.1 → XP_054211414.1  serine/threonine-protein kinase MAK isoform X4

    6. XM_054355436.1 → XP_054211411.1  serine/threonine-protein kinase MAK isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PH30

    7. XM_054355438.1 → XP_054211413.1  serine/threonine-protein kinase MAK isoform X6

      UniProtKB/TrEMBL
      Q8IXN4

    RNA

    1. XR_008487332.1 RNA Sequence

    2. XR_008487334.1 RNA Sequence

    3. XR_008487335.1 RNA Sequence

    4. XR_008487333.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20794.2 GenPept UniProtKB/Swiss-Prot:P20794

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