LOCUS       NM_133241               2369 bp    mRNA    linear   ROD 09-JUL-2024
DEFINITION  Mus musculus megalencephalic leukoencephalopathy with subcortical
            cysts 1 homolog (human) (Mlc1), transcript variant 1, mRNA.
ACCESSION   NM_133241
VERSION     NM_133241.2
KEYWORDS    RefSeq; RefSeq Select.
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 2369)
  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 2369)
  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 2369)
  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 2369)
  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 2369)
  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 2369)
  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 2369)
  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 2369)
  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 2369)
  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 2369)
  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
            BC024719.1.
            
            On Mar 8, 2007 this sequence version replaced NM_133241.1.
            
            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##
            Transcript exon combination :: BC024719.1, AK030396.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
FEATURES             Location/Qualifiers
     source          1..2369
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /db_xref="taxon:10090"
                     /chromosome="15"
                     /map="15 44.46 cM"
     gene            1..2369
                     /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..38
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            39..237
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             43..1191
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     membrane protein MLC1"
                     /codon_start=1
                     /product="membrane protein MLC1 isoform 1"
                     /protein_id="NP_573504.1"
                     /db_xref="CCDS:CCDS37173.1"
                     /db_xref="GeneID:170790"
                     /db_xref="MGI:MGI:2157910"
                     /translation="MTREGQFREELGYDRMPTLERGRQDAGRQDPGSYTPDSKPKDLQ
                     LSKRLPPCFSYKTWVFSVLMGSCLLVTSGFSLYLGNVFPSEMDYLRCAAGSCIPSAIV
                     SFAVGRRNVSAIPNFQILFVSTFAVTTTCLIWFGCKLILNPSAININFNLILLLLLEL
                     LMAATVIISARSSEEPCKKKKGSISDGSNILDEVTFPARVLKSYSVVEVIAGVSAVLG
                     GVIALNVEEAVSGPHLSVTFFWILVACFPSAIASHVTAECPSKCLVEVLIAISSLTSP
                     LLFTASGYLSFSVMRVVEIFKDYPPAIKSYDVLLLLLLLLLLLQGGLNTGTAIQCVSF
                     KVSARLQAASWDPQSCPQERPAGEVVRGPLKEFDKEKAWRAVVVQMAQ"
     exon            238..327
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            328..381
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            382..483
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            484..585
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            586..657
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            658..774
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            775..831
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            832..954
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            955..1116
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..2329
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2306..2311
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="hexamer: AATAAA"
     polyA_site      2325
                     /gene="Mlc1"
                     /gene_synonym="Kiaa0027-hp; LVM; MLC; VL; WKL1"
                     /note="major polyA site"
ORIGIN      
        1 cagaggccag ctttcccaac cgccggacga cagcagagcg ccatgacacg ggaggggcag
       61 ttcagggagg aactgggcta tgaccggatg cccacactgg agaggggtcg gcaggatgca
      121 ggacggcagg acccaggcag ctacacccct gactcaaagc ccaaggacct gcagctgtcg
      181 aagaggttgc ccccgtgctt cagctacaag acatgggtgt tctctgtgtt aatggggagc
      241 tgccttcttg tgacctctgg gttttcgctc tacttgggga acgtgttccc ctccgagatg
      301 gattatttgc gctgtgcagc aggctcttgc atcccctcag caattgtgag cttcgctgta
      361 gggaggagaa atgtcagtgc gattcccaac tttcagatat tgtttgtttc cacgttcgct
      421 gtgactacta cgtgtttgat ctggtttggg tgtaaactga tcctgaatcc ttcagccata
      481 aacattaatt tcaacctcat cctgctcctg ctgttggagc tcctcatggc agccacggtg
      541 atcatttcgg cccggtccag tgaggagccc tgcaagaaga agaagggttc catctccgat
      601 ggctctaaca ttctggatga agtgacgttt cctgctcggg tcctaaagtc ctactctgtg
      661 gtagaagtaa ttgctggtgt ctccgctgtc ctcggtgggg tgatcgctct aaacgtagag
      721 gaagctgtct cgggtccaca tctctcggtg acgttctttt ggattttagt ggcttgtttt
      781 cccagtgcca ttgccagcca tgtgacagcg gaatgtccca gcaagtgtct ggttgaggtg
      841 ctgatagcca tcagcagcct cacatcccca ctgctattca ctgcctctgg atatctgtcc
      901 ttcagtgtga tgagagtcgt ggagattttt aaagattacc cgccagccat caaatcttat
      961 gatgttctcc tgctgctcct gttgctgctg ctgctgcttc aggggggact caacactggc
     1021 accgccatcc agtgtgtgag cttcaaagtc agcgcccggc tgcaggctgc atcctgggac
     1081 ccccagtcct gtccccagga gcggccagca ggggaggtgg tccgaggccc cctcaaggag
     1141 tttgacaaag agaaagcctg gagagctgtg gtggtacaaa tggcccagtg actacaggat
     1201 aaagagactg agtctgggtg tctgcccgga ccccagcgtg ctccaccgta cggactctaa
     1261 ccattgcacg gctactgctt tctaacatac tatttccctc ctgtgagggc agcccaggct
     1321 gcaaggtggc ttttcggttc ctgtcgtagt ttaactttga aacaggaaaa tattgagtgt
     1381 tgggccctat taggtctcag tgtgtgcacc tcaggtgacc ctgatggcct gggtgttgct
     1441 tttttttcca gccctcctca cttcctgggt tgaccctcat tcaccaggac ctggtgttct
     1501 ggccttaggg cacttccatg ccttctcatg cttgccacag tgcagggata gtttggctgt
     1561 gagactcaca gatagtttgt atatcacctc cccaggcccc agaagacagc tggactctcc
     1621 cagctaacca gagaatcaag gaacctatag taagttgggt cctttgtgaa gctggggatc
     1681 attttaggaa ttgctttctg ggaggggagc ctctgtgctt gggaagacag cgagcgtgcc
     1741 tttactgagc tggggtatca atgggttccc ttccaggaag aggtatattc tgtgcctcag
     1801 aagagctgcc agggtcaggg agagagtgaa aatccttcta ggcagctcac ttgtagatac
     1861 acacgactgc caggattcag gaaaagcgtg gccattttca aacagaggga tgcaaggatg
     1921 gcacctgaca gggatcatgt aggagcaaag tggccccgcc tccagtgtcg gggacttccg
     1981 gtcctgtctc cattctctgc agcctgccct aaatgagaga tcatttttgc ttgcctatgt
     2041 gcggagccca atgggcttgg ggtcctctgc agctctatat accacacgct attgggtggg
     2101 aagggagtgg tggtcccact gggctgacaa gccatccgct ttcaggacct gggctttcag
     2161 gaccagaatg aggcggcaag aggattgctg ccagcttgca cttctaattt tagagggatg
     2221 ttttgttttt aactgactca tataagtggg gtctgaaaat cgtctcttgt atacttttgt
     2281 ctgttataga ttaatatgct tgagcaataa atgctaactc gcaaatgtga aaaaaaaaaa
     2341 aaaaaaaaaa aaaaaaaaaa aaaaaaaaa
//
