LOCUS       NM_001242957            3942 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens male germ cell associated kinase (MAK), transcript
            variant 3, mRNA.
ACCESSION   NM_001242957 XM_017010863
VERSION     NM_001242957.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3942)
  AUTHORS   Gray,J.M., Orlans,H.O., Shanks,M., Clouston,P. and MacLaren,R.E.
  TITLE     Slowly progressive retinitis pigmentosa caused by two novel
            mutations in the MAK gene
  JOURNAL   Ophthalmic Genet 39 (4), 508-511 (2018)
   PUBMED   29781741
  REMARK    GeneRIF: 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.
REFERENCE   2  (bases 1 to 3942)
  AUTHORS   Kimchi,A., Khateb,S., Wen,R., Guan,Z., Obolensky,A., Beryozkin,A.,
            Kurtzman,S., Blumenfeld,A., Pras,E., Jacobson,S.G., Ben-Yosef,T.,
            Newman,H., Sharon,D. and Banin,E.
  TITLE     Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish
            Population: Genetic and Clinical Aspects
  JOURNAL   Ophthalmology 125 (5), 725-734 (2018)
   PUBMED   29276052
  REMARK    GeneRIF: 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.
            Erratum:[Ophthalmology. 2020 Jan;127(1):139. doi:
            10.1016/j.ophtha.2019.10.024.. PMID: 31864473]
REFERENCE   3  (bases 1 to 3942)
  AUTHORS   Lai,Y.H., Capasso,J.E., Kaiser,R. and Levin,A.V.
  TITLE     Intraretinal cystoid spaces in a patient with retinitis pigmentosa
            due to mutation in the MAK gene
  JOURNAL   Ophthalmic Genet 37 (4), 424-426 (2016)
   PUBMED   26894652
  REMARK    GeneRIF: 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.
REFERENCE   4  (bases 1 to 3942)
  AUTHORS   Bujakowska,K.M., White,J., Place,E., Consugar,M. and Comander,J.
  TITLE     Efficient In Silico Identification of a Common Insertion in the MAK
            Gene which Causes Retinitis Pigmentosa
  JOURNAL   PLoS One 10 (11), e0142614 (2015)
   PUBMED   26558903
  REMARK    GeneRIF: 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.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3942)
  AUTHORS   van Huet,R.A., Siemiatkowska,A.M., Ozgul,R.K., Yucel,D.,
            Hoyng,C.B., Banin,E., Blumenfeld,A., Rotenstreich,Y.,
            Riemslag,F.C., den Hollander,A.I., Theelen,T., Collin,R.W., van den
            Born,L.I. and Klevering,B.J.
  TITLE     Retinitis pigmentosa caused by mutations in the ciliary MAK gene is
            relatively mild and is not associated with apparent extra-ocular
            features
  JOURNAL   Acta Ophthalmol 93 (1), 83-94 (2015)
   PUBMED   25385675
  REMARK    GeneRIF: Nonsense and missense mutations in MAK give rise to a
            non-syndromic recessive RP phenotype without apparent extra-ocular
            features.
REFERENCE   6  (bases 1 to 3942)
  AUTHORS   Xia,L., Robinson,D., Ma,A.H., Chen,H.C., Wu,F., Qiu,Y. and
            Kung,H.J.
  TITLE     Identification of human male germ cell-associated kinase, a kinase
            transcriptionally activated by androgen in prostate cancer cells
  JOURNAL   J Biol Chem 277 (38), 35422-35433 (2002)
   PUBMED   12084720
  REMARK    GeneRIF: identification and transcriptional activation by androgen
            in prostate cancer cells
REFERENCE   7  (bases 1 to 3942)
  AUTHORS   Jinno,A., Tanaka,K., Matsushime,H., Haneji,T. and Shibuya,M.
  TITLE     Testis-specific mak protein kinase is expressed specifically in the
            meiotic phase in spermatogenesis and is associated with a
            210-kilodalton cellular phosphoprotein
  JOURNAL   Mol Cell Biol 13 (7), 4146-4156 (1993)
   PUBMED   8321219
REFERENCE   8  (bases 1 to 3942)
  AUTHORS   Bladt,F. and Birchmeier,C.
  TITLE     Characterization and expression analysis of the murine rck gene: a
            protein kinase with a potential function in sensory cells
  JOURNAL   Differentiation 53 (2), 115-122 (1993)
   PUBMED   8359591
REFERENCE   9  (bases 1 to 3942)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
REFERENCE   10 (bases 1 to 3942)
  AUTHORS   Matsushime,H., Jinno,A., Takagi,N. and Shibuya,M.
  TITLE     A novel mammalian protein kinase gene (mak) is highly expressed in
            testicular germ cells at and after meiosis
  JOURNAL   Mol Cell Biol 10 (5), 2261-2268 (1990)
   PUBMED   2183027
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL024498.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On or before Dec 20, 2019 this sequence version replaced
            XM_017010863.2, NM_001242957.2.
            
            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].
            
            Transcript Variant: This variant (3) contains an alternate in-frame
            exon compared to variant 1. The encoded isoform (3) is longer than
            isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            CDS exon combination :: JN226411.1 [ECO:0000331]
            RNAseq introns       :: single sample supports all introns
                                    SAMEA2148874 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000354489.7/ ENSP00000346484.3
            RefSeq Select criteria    :: based on manual assertion,
                                         conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AL024498.13        106691-106727       c
            38-367              AL024498.13        98736-99065         c
            368-422             AL024498.13        87074-87128         c
            423-544             AL024498.13        86038-86159         c
            545-624             AL024498.13        81832-81911         c
            625-757             AL024498.13        76998-77130         c
            758-929             AL024498.13        71908-72079         c
            930-1097            AL024498.13        70080-70247         c
            1098-1409           AL024498.13        64186-64497         c
            1410-1582           AL024498.13        59863-60035         c
            1583-1731           AL024498.13        52612-52760         c
            1732-1863           AL024498.13        43516-43647         c
            1864-1938           AL024498.13        41222-41296         c
            1939-2058           AL024498.13        38299-38418         c
            2059-3942           AL024498.13        30911-32794         c
FEATURES             Location/Qualifiers
     source          1..3942
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.2"
     gene            1..3942
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /note="male germ cell associated kinase"
                     /db_xref="GeneID:4117"
                     /db_xref="HGNC:HGNC:6816"
                     /db_xref="MIM:154235"
     exon            1..37
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            38..367
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     CDS             267..2213
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /EC_number="2.7.11.1"
                     /note="isoform 3 is encoded by transcript variant 3;
                     serine/threonine protein kinase MAK; testicular secretory
                     protein Li 28"
                     /codon_start=1
                     /product="serine/threonine-protein kinase MAK isoform 3"
                     /protein_id="NP_001229886.1"
                     /db_xref="CCDS:CCDS75399.1"
                     /db_xref="GeneID:4117"
                     /db_xref="HGNC:HGNC:6816"
                     /db_xref="MIM:154235"
                     /translation="MNRYTTMRQLGDGTYGSVLMGKSNESGELVAIKRMKRKFYSWDE
                     CMNLREVKSLKKLNHANVIKLKEVIRENDHLYFIFEYMKENLYQLMKDRNKLFPESVI
                     RNIMYQILQGLAFIHKHGFFHRDMKPENLLCMGPELVKIADFGLARELRSQPPYTDYV
                     STRWYRAPEVLLRSSVYSSPIDVWAVGSIMAELYMLRPLFPGTSEVDEIFKICQVLGT
                     PKKSDWPEGYQLASSMNFRFPQCVPINLKTLIPNASNEAIQLMTEMLNWDPKKRPTAS
                     QALKHPYFQVGQVLGPSSNHLESKQSLNKQLQPLESKPSLVEVEPKPLPDIIDQVVGQ
                     PQPKTSQQPLQPIQPPQNLSVQQPPKQQSQEKPPQTLFPSIVKNMPTKPNGTLSHKSG
                     RRRWGQTIFKSGDSWEELEDYDFGASHSKKPSMGVFKEKRKKDSPFRLPEPVPSGSNH
                     STGENKSLPAVTSLKSDSELSTAPTSKQYYLKQSRYLPGVNPKKVSLIASGKEINPHT
                     WSNQLFPKSLGPVGAELAFKRSNAEESIIKPIEKLSCNETFPEKLEDPQGNLGSYATY
                     NQSGYIPSFLKKEVQSAGQRIHLAPLNATASEYTWNTKTGRGQFSGRTYNPTAKNLNI
                     VNRAQPIPSVHGRTDWVAKYGGHR"
     exon            368..422
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            423..544
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            545..624
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            625..757
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            758..929
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1097
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1409
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            1410..1582
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            1583..1731
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1863
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1938
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2058
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     exon            2059..3942
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2445..2450
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /note="hexamer: AATAAA"
     polyA_site      2465
                     /gene="MAK"
                     /gene_synonym="RP62"
     regulatory      3923..3928
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /note="hexamer: ATTAAA"
     polyA_site      3942
                     /gene="MAK"
                     /gene_synonym="RP62"
                     /note="major polyA site"
ORIGIN      
        1 acacaagacg ccggagcttc acaagggagc gaacgagggt gtttataaga atggaagtgt
       61 tgtttccttg cccgattcct tcatgctata tctcatgaac ctctgtaatc ttgggggaga
      121 gactatattt aatgatgaca aacctgtcac cagtgtagca acaacagtgt gaggacaaaa
      181 gcaaataaaa attaagaagc gttcaaattt atattcaaca aggaagtcat ttcaatcaac
      241 aacttctgct gcattatttt tccaagatga accgatacac aaccatgaga cagttggggg
      301 acggcacgta tgggagtgtg cttatgggca agagtaatga atccggggag ctggtggcca
      361 tcaaaaggat gaagagaaag ttctattctt gggatgaatg catgaacttg agagaagtta
      421 agtctctgaa gaaacttaat catgccaatg ttattaaatt gaaagaagtt atcagagaaa
      481 atgaccatct ttattttata tttgaatata tgaaagaaaa cctctatcaa ttaatgaaag
      541 acagaaacaa gttgttccct gaatcagtca tcagaaatat tatgtatcaa atattgcaag
      601 ggctggcttt tatccataaa catggctttt ttcataggga catgaaacca gaaaacttgc
      661 tttgtatggg tccagagctt gtgaaaattg ctgattttgg acttgcaaga gaattaaggt
      721 cacagccacc atacactgat tatgtatcta ccagatggta tcgtgcccct gaagttttac
      781 tgagatcttc agtttatagt tctcccattg atgtgtgggc tgttggaagt atcatggctg
      841 aactctatat gttaaggcca cttttcccag ggacaagtga ggtcgatgaa atctttaaaa
      901 tttgccaagt tttagggact cccaaaaaaa gtgactggcc agaaggatac cagctggcat
      961 cctctatgaa cttccgtttt ccccagtgtg ttcctataaa cttaaaaact cttattccca
     1021 atgccagtaa tgaagctatt cagctcatga ccgaaatgtt gaattgggat ccaaagaaac
     1081 gaccgacagc aagccaggca ttgaaacacc catattttca agttggtcag gtattaggcc
     1141 cttcgtcaaa tcatctggaa tcaaaacagt ctttaaataa gcagctgcaa ccattagaat
     1201 caaagccatc tttagttgag gtagagccta agcctctgcc ggatataatc gatcaggttg
     1261 ttggacaacc ccagccaaaa actagccagc agccactgca gcccattcag ccgccacaga
     1321 acctgagcgt ccagcaacct ccaaagcaac agagtcagga gaaaccgcca caaacgctat
     1381 tcccgagcat cgtcaaaaac atgccaacta agccaaatgg cacactgagt cataaaagtg
     1441 gtaggaggcg ttggggtcag actatcttca agtctggaga tagctgggaa gagttggagg
     1501 actatgattt cggagcctcc cattccaaga agccaagcat gggtgttttt aaagaaaaaa
     1561 ggaaaaaaga ttctccattt cggcttccag agccagtacc ctcaggctcc aaccactcga
     1621 caggggaaaa caagagctta cctgctgtta cttccctaaa atctgattcc gaattgtcaa
     1681 ctgctccaac ctctaaacag tactacttga aacaatcaag atatcttcca ggtgtgaatc
     1741 ccaagaaggt gtccttgata gccagtggaa aggaaataaa cccccacact tggagcaacc
     1801 agttattccc caagtcactg ggacccgttg gggcagaact tgctttcaaa aggagcaatg
     1861 cagaagaaag cataattaaa ccaatcgaaa aactatcatg caatgaaact tttcctgaaa
     1921 aattagagga cccacaagga aatcttggaa gttatgctac ttacaatcag tcaggatata
     1981 ttccttcctt tctcaaaaaa gaagtgcagt cagctggcca gaggatccac ttagcacctc
     2041 tcaatgcaac ggcttcagaa tatacctgga acacaaaaac tggtcggggg cagttttcag
     2101 gacgtactta taatcctaca gcaaaaaacc taaatattgt gaaccgtgca cagcccattc
     2161 cctcagtgca tgggaggaca gactgggtgg ccaagtatgg aggccaccgg taggagtcta
     2221 tggtgtgaaa ccctacagca ttgctccgta gagtacgtgc aagttccttg accctgggaa
     2281 atgtctacaa atgtctattt ctactgagtt ctggaagaaa tatgcaaaag tgggtacttg
     2341 gaagggcaaa aatcatcccc tattttactt atttccaaga aatgcatttt cttagcatca
     2401 ttgcccacag tgttgatata tgggtaggat gttacaaagt attgaataaa ctatttgcca
     2461 aagtatgaag tatttgatct acaatttaat aaatagtaaa tccaataaga acccttaaaa
     2521 aaaaacaact tccagaaaat gtttagagtg ttttagtttt catttgttgt atgtgcccaa
     2581 atggtttagt agttcttcac tttgctgtgg ttggcttaag aggtttgtct tttgtttttg
     2641 tacagcagtt gggccaacct ttgctggctg tcagctgtgg ttcttatttg actaaggctc
     2701 tgcgctgcca ttttgtcaat gacagaaaga ttgcaattat ttgtttttct actttgaagc
     2761 tatgggagcg atggtaattt caatcttgag caggatatct tttttttttt ttttgaggcg
     2821 atgtttcact cttgtgtcca ggctggagtg cagtggcact atcttggctt actgcaacct
     2881 ccacctcctg ggttcaagtg attctcctgc ctcagcctcc cgagtagctg ggattagagg
     2941 cgtgtgccac catgcctggc taatttttgt agtattagta gagacagggt ttcaccatgt
     3001 tggtcaggct caggctggtc tcaaactcct gacctcaggt gatccacctg cctcggcctc
     3061 ccaaagtgca gggcttacag gtgtgagcca cagtgcccag cttttttttt ttttttttag
     3121 aaataaattt atctttaaca tagagaatat caaagttatg ccacttgatt ttagtggacg
     3181 gcttgtgttt tgatcttgac cagtacagtt cccatgaatt caaggtgaca atcaagccca
     3241 atggcttgat gacttcaata gtaaccaagt caaggttctc ttggctggac atcattaaga
     3301 aagttctgga aactgtgttt gtttgatgct ggttcattgg acttttcaaa ttgttttgtt
     3361 tctgtgtccc taccagacac aaagatgaag tgtgccagct ggttccccca agccagctca
     3421 tgctgctgac cactgactca gctctgacct tcacatttgc tctgaagcaa gtgcgttcag
     3481 ctgctggggc agtgatatca catagtacat atattatttc cttagtttat ttccaaactg
     3541 gtattttaaa tagacacttc gaactttggg ctactctgtt taaatctgcc actttctgga
     3601 ctggacctta gtactgtaaa ttctttttaa agaataataa tgttaccaac tgctgagatt
     3661 tttatgtatt ttgtgacttt gtaacaactg ctattgtaat aagtgtcatc ttgtgggcat
     3721 tatacaaagg catattataa aataataatg atatttttgt atagaagagt caactgttca
     3781 gatgtaagat gttgaaaaat gttaaaatct aaagagtaat ttatcctagt ggtaatggtt
     3841 atatgtattt gtacagttta aattaatgtc tcaaagctgt gcagtctttt gttactggga
     3901 cacttttaaa ctctgaatag gcattaaaaa aaatatggct aa
//
