LOCUS       NM_001364855            2783 bp    mRNA    linear   ROD 09-JUL-2024
DEFINITION  Mus musculus megalencephalic leukoencephalopathy with subcortical
            cysts 1 homolog (human) (Mlc1), transcript variant 2, mRNA.
ACCESSION   NM_001364855 XM_011245483
VERSION     NM_001364855.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2783)
  AUTHORS   Avila-Gutierrez,K., Slaoui,L., Alvear-Perez,R., Kozlowski,E.,
            Oudart,M., Augustin,E., Claveau,C., Mailly,P., Monnet,H.,
            Mignon,V., Saubamea,B., Boulay,A.C. and Cohen-Salmon,M.
  TITLE     Dynamic local mRNA localization and translation occurs during the
            postnatal molecular maturation of perivascular astrocytic processes
  JOURNAL   Glia 72 (4), 777-793 (2024)
   PUBMED   38189217
REFERENCE   2  (bases 1 to 2783)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   3  (bases 1 to 2783)
  AUTHORS   Brignone,M.S., Lanciotti,A., Molinari,P., Mallozzi,C., De
            Nuccio,C., Caprini,E.S., Petrucci,T.C., Visentin,S. and
            Ambrosini,E.
  TITLE     Megalencephalic leukoencephalopathy with subcortical cysts
            protein-1: A new calcium-sensitive protein functionally activated
            by endoplasmic reticulum calcium release and calmodulin binding in
            astrocytes
  JOURNAL   Neurobiol Dis 190, 106388 (2024)
   PUBMED   38141856
  REMARK    GeneRIF: Megalencephalic leukoencephalopathy with subcortical cysts
            protein-1: A new calcium-sensitive protein functionally activated
            by endoplasmic reticulum calcium release and calmodulin binding in
            astrocytes.
REFERENCE   4  (bases 1 to 2783)
  AUTHORS   Kater,M.S.J., Baumgart,K.F., Badia-Soteras,A., Heistek,T.S.,
            Carney,K.E., Timmerman,A.J., van Weering,J.R.T., Smit,A.B., van der
            Knaap,M.S., Mansvelder,H.D., Verheijen,M.H.G. and Min,R.
  TITLE     A novel role for MLC1 in regulating astrocyte-synapse interactions
  JOURNAL   Glia 71 (7), 1770-1785 (2023)
   PUBMED   37002718
  REMARK    GeneRIF: A novel role for MLC1 in regulating astrocyte-synapse
            interactions.
REFERENCE   5  (bases 1 to 2783)
  AUTHORS   Yao,S.Q., Wang,M., Liang,J.J., Ng,T.K. and Cen,L.P.
  TITLE     Retinal transcriptome of neonatal mice after optic nerve injury
  JOURNAL   PLoS One 18 (5), e0286344 (2023)
   PUBMED   37252932
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2783)
  AUTHORS   Teijido,O., Martinez,A., Pusch,M., Zorzano,A., Soriano,E., Del
            Rio,J.A., Palacin,M. and Estevez,R.
  TITLE     Localization and functional analyses of the MLC1 protein involved
            in megalencephalic leukoencephalopathy with subcortical cysts
  JOURNAL   Hum Mol Genet 13 (21), 2581-2594 (2004)
   PUBMED   15367490
  REMARK    GeneRIF: Localization and functional analysis of Mlc1 were done in
            megalocephalic leukoencephalopathy with subcortical cysts.
REFERENCE   7  (bases 1 to 2783)
  AUTHORS   Kaganovich,M., Peretz,A., Ritsner,M., Bening Abu-Shach,U.,
            Attali,B. and Navon,R.
  TITLE     Is the WKL1 gene associated with schizophrenia?
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 125B (1), 31-37 (2004)
   PUBMED   14755440
  REMARK    GeneRIF: Wkl1 is not associated with schizophrenia.
REFERENCE   8  (bases 1 to 2783)
  AUTHORS   Schmitt,A., Gofferje,V., Weber,M., Meyer,J., Mossner,R. and
            Lesch,K.P.
  TITLE     The brain-specific protein MLC1 implicated in megalencephalic
            leukoencephalopathy with subcortical cysts is expressed in glial
            cells in the murine brain
  JOURNAL   Glia 44 (3), 283-295 (2003)
   PUBMED   14603469
  REMARK    GeneRIF: Because the temporal expression of Mlc1 indicates that, in
            contrast to developing and mature astrocytes, oligodendrocytes are
            devoid of Mlc1 expression, white matter tract abnormalities in
            these disorders may result from a primary astrocytic defect.
REFERENCE   9  (bases 1 to 2783)
  AUTHORS   Steinke,V., Meyer,J., Syagailo,Y.V., Ortega,G., Hameister,H.,
            Mossner,R., Schmitt,A. and Lesch,K.P.
  TITLE     The genomic organization of the murine Mlc1 (Wkl1, KIAA0027) gene
  JOURNAL   J Neural Transm (Vienna) 110 (4), 333-343 (2003)
   PUBMED   12658361
  REMARK    GeneRIF: The complete cDNA sequence, exon-intron organization, and
            5'-flanking regulatory region of murine Mlc1 have been reported.
REFERENCE   10 (bases 1 to 2783)
  AUTHORS   Leegwater,P.A., Boor,P.K., Yuan,B.Q., van der Steen,J., Visser,A.,
            Konst,A.A., Oudejans,C.B., Schutgens,R.B., Pronk,J.C. and van der
            Knaap,M.S.
  TITLE     Identification of novel mutations in MLC1 responsible for
            megalencephalic leukoencephalopathy with subcortical cysts
  JOURNAL   Hum Genet 110 (3), 279-283 (2002)
   PUBMED   11935341
  REMARK    Erratum:[Hum Genet 2002 Jul;111(1):114]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BY276435.1 and AK122190.1.
            
            On Jul 12, 2018 this sequence version replaced XM_011245483.2.
            
            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##
            Transcript exon combination :: AK122190.1, SRR7345562.4408651.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                BY276435.1         2-13
            13-2783             AK122190.1         1-2771
FEATURES             Location/Qualifiers
     source          1..2783
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 44.46 cM"
     gene            1..2783
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="megalencephalic leukoencephalopathy with
                     subcortical cysts 1 homolog (human)"
                     /db_xref="GeneID:170790"
                     /db_xref="MGI:MGI:2157910"
     exon            1..474
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             407..1645
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     membrane protein MLC1"
                     /codon_start=1
                     /product="membrane protein MLC1 isoform 2"
                     /protein_id="NP_001351784.1"
                     /db_xref="GeneID:170790"
                     /db_xref="MGI:MGI:2157910"
                     /translation="MNTSCWKSITQRPAFPTAGRQQSTMPVSSAMTREGQFREELGYD
                     RMPTLERGRQDAGRQDPGSYTPDSKPKDLQLSKRLPPCFSYKTWVFSVLMGSCLLVTS
                     GFSLYLGNVFPSEMDYLRCAAGSCIPSAIVSFAVGRRNVSAIPNFQILFVSTFAVTTT
                     CLIWFGCKLILNPSAININFNLILLLLLELLMAATVIISARSSEEPCKKKKGSISDGS
                     NILDEVTFPARVLKSYSVVEVIAGVSAVLGGVIALNVEEAVSGPHLSVTFFWILVACF
                     PSAIASHVTAECPSKCLVEVLIAISSLTSPLLFTASGYLSFSVMRVVEIFKDYPPAIK
                     SYDVLLLLLLLLLLLQGGLNTGTAIQCVSFKVSARLQAASWDPQSCPQERPAGEVVRG
                     PLKEFDKEKAWRAVVVQMAQ"
     exon            475..691
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            692..781
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            782..835
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            836..937
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1039
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..1111
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1228
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1229..1285
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..1408
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1570
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..2783
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2760..2765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="hexamer: AATAAA"
     polyA_site      2779
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="major polyA site"
ORIGIN      
        1 agttcaaggg ccagctttgc caaaatcaag aacataaagg tttatgcggc ctgacgaagg
       61 agattttcgt caagtaataa tgggaaacaa agaatgacgg cttaaaaaga tgtagacctt
      121 tgagtagttt tctgttcggg gcccaatact ggtcaggatc caaatccagc gctggactct
      181 cctatcctta gtaatacttc tctttccaag acatccacct ggctagtgag cagtgagggg
      241 gaccaagggc tcttcctttc ctattgggaa agctccaagc cactggttat gcaatcaagg
      301 agagcacttc taggatccac tcccttaatc tcctcattaa aattcaggaa gctgtgtgcc
      361 tgcccctggc tgaagtgcag tttggctgag agcttttgtt ccacttatga atacttcttg
      421 ctggaagtcc atcacccaga ggccagcttt cccaaccgcc ggacgacagc agagtaccat
      481 gcctgtttcc agcgccatga cacgggaggg gcagttcagg gaggaactgg gctatgaccg
      541 gatgcccaca ctggagaggg gtcggcagga tgcaggacgg caggacccag gcagctacac
      601 ccctgactca aagcccaagg acctgcagct gtcgaagagg ttgcccccgt gcttcagcta
      661 caagacatgg gtgttctctg tgttaatggg gagctgcctt cttgtgacct ctgggttttc
      721 gctctacttg gggaacgtgt tcccctccga gatggattat ttgcgctgtg cagcaggctc
      781 ttgcatcccc tcagcaattg tgagcttcgc tgtagggagg agaaatgtca gtgcgattcc
      841 caactttcag atattgtttg tttccacgtt cgctgtgact actacgtgtt tgatctggtt
      901 tgggtgtaaa ctgatcctga atccttcagc cataaacatt aatttcaacc tcatcctgct
      961 cctgctgttg gagctcctca tggcagccac ggtgatcatt tcggcccggt ccagtgagga
     1021 gccctgcaag aagaagaagg gttccatctc cgatggctct aacattctgg atgaagtgac
     1081 gtttcctgct cgggtcctaa agtcctactc tgtggtagaa gtaattgctg gtgtctccgc
     1141 tgtcctcggt ggggtgatcg ctctaaacgt agaggaagct gtctcgggtc cacatctctc
     1201 ggtgacgttc ttttggattt tagtggcttg ttttcccagt gccattgcca gccatgtgac
     1261 agcggaatgt cccagcaagt gtctggttga ggtgctgata gccatcagca gcctcacatc
     1321 cccactgcta ttcactgcct ctggatatct gtccttcagt gtgatgagag tcgtggagat
     1381 ttttaaagat tacccgccag ccatcaaatc ttatgatgtt ctcctgctgc tcctgttgct
     1441 gctgctgctg cttcaggggg gactcaacac tggcaccgcc atccagtgtg tgagcttcaa
     1501 agtcagcgcc cggctgcagg ctgcatcctg ggacccccag tcctgtcccc aggagcggcc
     1561 agcaggggag gtggtccgag gccccctcaa ggagtttgac aaagagaaag cctggagagc
     1621 tgtggtggta caaatggccc agtgactaca ggataaagag actgagtctg ggtgtctgcc
     1681 cggaccccag cgtgctccac cgtacggact ctaaccattg cacggctact gctttctaac
     1741 atactatttc cctcctgtga gggcagccca ggctgcaagg tggcttttcg gttcctgtcg
     1801 tagtttaact ttgaaacagg aaaatattga gtgttgggcc ctattaggtc tcagtgtgtg
     1861 cacctcaggt gaccctgatg gcctgggtgt tgcttttttt tccagccctc ctcacttcct
     1921 gggttgaccc tcattcacca ggacctggtg ttctggcctt agggcacttc catgccttct
     1981 catgcttgcc acagtgcagg gatagtttgg ctgtgagact cacagatagt ttgtatatca
     2041 cctccccagg ccccagaaga cagctggact ctcccagcta accagagaat caaggaacct
     2101 atagtaagtt gggtcctttg tgaagctggg gatcatttta ggaattgctt tctgggaggg
     2161 gagcctctgt gcttgggaag acagcgagcg tgcctttact gagctggggt atcaatgggt
     2221 tcccttccag gaagaggtat attctgtgcc tcagaagagc tgccagggtc agggagagag
     2281 tgaaaatcct tctaggcagc tcacttgtag atacacacga ctgccaggat tcaggaaaag
     2341 cgtggccatt ttcaaacaga gggatgcaag gatggcacct gacagggatc atgtaggagc
     2401 aaagtggccc cgcctccagt gtcggggact tccggtcctg tctccattct ctgcagcctg
     2461 ccctaaatga gagatcattt ttgcttgcct atgtgcggag cccaatgggc ttggggtcct
     2521 ctgcagctct atataccaca cgctattggg tgggaaggga gtggtggtcc cactgggctg
     2581 acaagccatc cgctttcagg acctgggctt tcaggaccag aatgaggcgg caagaggatt
     2641 gctgccagct tgcacttcta attttagagg gatgttttgt ttttaactga ctcatataag
     2701 tggggtctga aaatcgtctc ttgtatactt ttgtctgtta tagattaata tgcttgagca
     2761 ataaatgcta actcgcaaat gtg
//
