LOCUS       NM_015166               3457 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens modulator of VRAC current 1 (MLC1), transcript variant
            1, mRNA.
ACCESSION   NM_015166
VERSION     NM_015166.4
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 3457)
  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   2  (bases 1 to 3457)
  AUTHORS   Wu,Z., Ni,J., Zhang,H., Zhang,Y., Lv,C., Wang,Y., Wang,K. and
            Peng,B.
  TITLE     MLC1 Overexpression Inhibits Tumor Progression through PI3K/AKT
            Signal Pathway in Prostate Cancer
  JOURNAL   Adv Biol (Weinh) 8 (1), e2300060 (2024)
   PUBMED   37821359
  REMARK    GeneRIF: MLC1 Overexpression Inhibits Tumor Progression through
            PI3K/AKT Signal Pathway in Prostate Cancer.
REFERENCE   3  (bases 1 to 3457)
  AUTHORS   Khalaf-Nazzal,R., Dweikat,I., Maree,M., Alawneh,M., Barahmeh,M.,
            Doulani,R.T., Qrareya,M., Qadi,M. and Dudin,A.
  TITLE     Prevalent MLC1 mutation causing autosomal recessive megalencephalic
            leukoencephalopathy in consanguineous Palestinian families
  JOURNAL   Brain Dev 44 (7), 454-461 (2022)
   PUBMED   35440380
  REMARK    GeneRIF: Prevalent MLC1 mutation causing autosomal recessive
            megalencephalic leukoencephalopathy in consanguineous Palestinian
            families.
REFERENCE   4  (bases 1 to 3457)
  AUTHORS   Ain Ul Batool,S., Almatrafi,A., Fadhli,F., Alluqmani,M., Sadia,
            Ali,G. and Basit,S.
  TITLE     A homozygous missense variant in the MLC1 gene underlies
            megalencephalic leukoencephalopathy with subcortical cysts in large
            kindred: Heterozygous carriers show seizure and mild motor function
            deterioration
  JOURNAL   Am J Med Genet A 188 (4), 1075-1082 (2022)
   PUBMED   34918859
  REMARK    GeneRIF: A homozygous missense variant in the MLC1 gene underlies
            megalencephalic leukoencephalopathy with subcortical cysts in large
            kindred: Heterozygous carriers show seizure and mild motor function
            deterioration.
REFERENCE   5  (bases 1 to 3457)
  AUTHORS   Meyer,J., Huberth,A., Ortega,G., Syagailo,Y.V., Jatzke,S.,
            Mossner,R., Strom,T.M., Ulzheimer-Teuber,I., Stober,G., Schmitt,A.
            and Lesch,K.P.
  TITLE     A missense mutation in a novel gene encoding a putative cation
            channel is associated with catatonic schizophrenia in a large
            pedigree
  JOURNAL   Mol Psychiatry 6 (3), 302-306 (2001)
   PUBMED   11326298
REFERENCE   6  (bases 1 to 3457)
  AUTHORS   Leegwater,P.A., Yuan,B.Q., van der Steen,J., Mulders,J.,
            Konst,A.A., Boor,P.K., Mejaski-Bosnjak,V., van der Maarel,S.M.,
            Frants,R.R., Oudejans,C.B., Schutgens,R.B., Pronk,J.C. and van der
            Knaap,M.S.
  TITLE     Mutations of MLC1 (KIAA0027), encoding a putative membrane protein,
            cause megalencephalic leukoencephalopathy with subcortical cysts
  JOURNAL   Am J Hum Genet 68 (4), 831-838 (2001)
   PUBMED   11254442
REFERENCE   7  (bases 1 to 3457)
  AUTHORS   Dunham,I., Shimizu,N., Roe,B.A., Chissoe,S., Hunt,A.R.,
            Collins,J.E., Bruskiewich,R., Beare,D.M., Clamp,M., Smink,L.J.,
            Ainscough,R., Almeida,J.P., Babbage,A., Bagguley,C., Bailey,J.,
            Barlow,K., Bates,K.N., Beasley,O., Bird,C.P., Blakey,S.,
            Bridgeman,A.M., Buck,D., Burgess,J., Burrill,W.D., O'Brien,K.P. et
            al.
  TITLE     The DNA sequence of human chromosome 22
  JOURNAL   Nature 402 (6761), 489-495 (1999)
   PUBMED   10591208
  REMARK    Erratum:[Nature 2000 Apr 20;404(6780):904]
REFERENCE   8  (bases 1 to 3457)
  AUTHORS   Kawai,T., Nomura,F., Hoshino,K., Copeland,N.G., Gilbert,D.J.,
            Jenkins,N.A. and Akira,S.
  TITLE     Death-associated protein kinase 2 is a new
            calcium/calmodulin-dependent protein kinase that signals apoptosis
            through its catalytic activity
  JOURNAL   Oncogene 18 (23), 3471-3480 (1999)
   PUBMED   10376525
REFERENCE   9  (bases 1 to 3457)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24501781
REFERENCE   10 (bases 1 to 3457)
  AUTHORS   Min,R., Abbink,T.E.M. and van der Knaap,M.S.
  TITLE     Megalencephalic Leukoencephalopathy with Subcortical Cysts
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301707
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022327.17.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 14, 2019 this sequence version replaced NM_015166.3.
            
            Summary: The function of this gene product is unknown; however,
            homology to other proteins suggests that it may be an integral
            membrane transporter. Mutations in this gene have been associated
            with megalencephalic leukoencephalopathy with subcortical cysts, an
            autosomal recessive neurological disorder. Alternatively spliced
            transcript variants encoding different isoforms have been
            identified. [provided by RefSeq, Jul 2008].
            
            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 :: D25217.3, AF319633.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311597.10/ ENSP00000310375.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-72                AL022327.17        98064-98135         c
            73-308              AL022327.17        97435-97670         c
            309-398             AL022327.17        95793-95882         c
            399-452             AL022327.17        93053-93106         c
            453-554             AL022327.17        92627-92728         c
            555-656             AL022327.17        90110-90211         c
            657-728             AL022327.17        89550-89621         c
            729-845             AL022327.17        86925-87041         c
            846-902             AL022327.17        83236-83292         c
            903-1025            AL022327.17        81142-81264         c
            1026-1190           AL022327.17        76743-76907         c
            1191-3457           AL022327.17        72100-74366         c
FEATURES             Location/Qualifiers
     source          1..3457
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.33"
     gene            1..3457
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /note="modulator of VRAC current 1"
                     /db_xref="GeneID:23209"
                     /db_xref="HGNC:HGNC:17082"
                     /db_xref="MIM:605908"
     exon            1..72
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            73..308
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1265
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /note="isoform 1 is encoded by transcript variant 1;
                     membrane protein MLC1; megalencephalic leukoencephalopathy
                     with subcortical cysts 1; megalencephalic
                     leukoencephalopathy with subcortical cysts protein 1"
                     /codon_start=1
                     /product="membrane protein MLC1 isoform 1"
                     /protein_id="NP_055981.1"
                     /db_xref="CCDS:CCDS14083.1"
                     /db_xref="GeneID:23209"
                     /db_xref="HGNC:HGNC:17082"
                     /db_xref="MIM:605908"
                     /translation="MTQEPFREELAYDRMPTLERGRQDPASYAPDAKPSDLQLSKRLP
                     PCFSHKTWVFSVLMGSCLLVTSGFSLYLGNVFPAEMDYLRCAAGSCIPSAIVSFTVSR
                     RNANVIPNFQILFVSTFAVTTTCLIWFGCKLVLNPSAININFNLILLLLLELLMAATV
                     IIAARSSEEDCKKKKGSMSDSANILDEVPFPARVLKSYSVVEVIAGISAVLGGIIALN
                     VDDSVSGPHLSVTFFWILVACFPSAIASHVAAECPSKCLVEVLIAISSLTSPLLFTAS
                     GYLSFSIMRIVEMFKDYPPAIKPSYDVLLLLLLLVLLLQAGLNTGTAIQCVRFKVSAR
                     LQGASWDTQNGPQERLAGEVARSPLKEFDKEKAWRAVVVQMAQ"
     exon            309..398
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            399..452
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            453..554
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            555..656
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            657..728
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            729..845
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            846..902
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1025
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1190
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..3457
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3434..3439
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /note="hexamer: AATAAA"
     polyA_site      3457
                     /gene="MLC1"
                     /gene_synonym="LVM; MLC; VL"
                     /note="major polyA site"
ORIGIN      
        1 atttgtgaat acttcttgct ggaagtccct cacccagaga ccagtgctcc caacggcaga
       61 gcagcggggg agataaagaa ctggtgacac gtggctgtac attcagcaca gctgtggtgt
      121 ccccaagtgc catgacccag gagccattca gagaggagct ggcctatgac cggatgccca
      181 cgctggagcg gggccggcaa gaccccgcca gctatgcccc agacgcgaag ccgagcgacc
      241 tgcagctgtc gaagagactg cccccctgct tcagccacaa gacgtgggtc ttctctgtgc
      301 tgatggggag ctgcctcctg gtgacctcgg ggttttcgct gtacctgggg aacgtgttcc
      361 cggctgagat ggattacttg cgctgtgctg caggctcttg catcccctcg gcaattgtga
      421 gcttcaccgt ctccaggagg aacgccaatg tgattcccaa ctttcagata ttgtttgttt
      481 ccacgtttgc tgtgaccact acgtgtttaa tttggtttgg atgcaaacta gtcctgaacc
      541 catcagcaat aaacatcaac ttcaacctca tcctgctgct cctgctggag ctgctcatgg
      601 cggccacggt gatcatcgct gcacggtcca gcgaggagga ctgcaagaaa aagaagggct
      661 ccatgtctga cagcgccaac attctggacg aagtgccatt tcctgctcgg gtcctgaaat
      721 cttactcagt cgtcgaggta atcgcaggca tctctgccgt cctcgggggg atcattgccc
      781 tgaacgtgga tgactcagtt tcaggcccac acctctcagt gacgttcttt tggatcctag
      841 tggcctgctt tccaagtgcc attgccagtc atgtggcagc agagtgtccc agcaagtgtc
      901 tggtggaggt cctgattgcc ataagcagcc tcacgtctcc gctgctgttc acagcctctg
      961 gatatctgtc attcagcatc atgagaatcg tggagatgtt taaggattac ccgccagcca
     1021 taaaaccatc ctacgatgtg ctgctgctgc tgctgctgct agtgctcctg ctgcaggccg
     1081 gcctcaacac gggcaccgcc atccagtgcg tgcgcttcaa ggtcagtgca aggctgcagg
     1141 gtgcatcctg ggacacccag aacggcccgc aggagcgcct ggctggggag gtggccagga
     1201 gccccctgaa ggagttcgac aaggagaaag cctggagagc cgtcgtggtg caaatggccc
     1261 agtgaccccc agacgcggaa accgggtggc agcgcccagc ctggccccaa gcatggaaac
     1321 gcacaacccc taatcgccct gagctactgc ttctaacacc tcttttccct tgtgtgaggg
     1381 caaaccaggc tgcaggtggg gttttcactt cctagggtag tttaatttta aaataggcca
     1441 atgttggcta gtctgtgcct cagtgagatc agtcagctcc gagtggctcc cgtgtcgtaa
     1501 cagcaggagc atggccgcaa cttcccaggc cgaggaaggg cccccggctc ggcctcttga
     1561 gagccccacc cctgaactgg ccccagctcc tcttcctgcc tctctcatgg cttgggctgg
     1621 agtgggctct ctggacctga ccagactgtg ggtccctgcg tctcctgccc actctgaccg
     1681 ggcttcctcc ctccacgctt agggtctgtc ccgggtactc agtcagccca gtgggatctt
     1741 acccacttcc ctgcaaggtg cacctgcccc aggctcaggc tgcccagcgg ctcttcctgg
     1801 acagtgagag cagggctggg cgcctctgtc ctggcccggg agccgcaggg gcccctcctc
     1861 cagagcctgg gcgcaagcga cacaggctgc cgctgctctc ccaggtgaaa tccacaccag
     1921 tccacgccgg gtcgcctgcc ctgtctccct acttagaccc agtcattcta gagggatcca
     1981 ccgccacact ggccggccca cgtcctgggt gctgtcatgc ccagcttgga gtgccacgtg
     2041 gccgctgccc acgtcccggg cactgtcatg cccagcttgg agtgccacat ggccgctgcc
     2101 cacgtcccgg gcactgtcat gcccagcttg gagtgccacg tggccgctgc tgtgacaggc
     2161 agtgttcttg ggggtggggc tgcatccaag gctttgtaaa ccggctggac cacgtctccc
     2221 tggccccagt gaccggggga agctgagccc ctccctcctg tgtttgctcc cattactcaa
     2281 aatgcaggac agatcaggtc agagcccagg aattctcaca ggttcaccca gcgccctcta
     2341 cctcctagca agtactttgt cttgatcctc actgagaagg ccccagggca gcggtcttct
     2401 ccatctccgc tgttttgggg tcttagggta cagcccaggc ggtcactgcc cacctgccag
     2461 gctgcaggga cagttgggtg tgagaataac actggctttg ggtagtgcca tggccaggag
     2521 tgggtttccc tgcgtctcct cgtcccgagg gcgcctgggt cctcccagct gacggcagta
     2581 aatccacagt gagttggggc gactgtgaaa ctggaatgct gttactttga taattacttt
     2641 ccagcaggtg ttttccttca caatggtttt gtttctttcc ttctgatctg agaagacatg
     2701 aacgttttct cttcaccgcc gtggggtgta ttgactggtc ccccatgggc tgctggaaag
     2761 gcccggagat gcatctgtgg cctggggcca tcaagatcaa agaaccagga ggcctgggag
     2821 atgcagctgg atggggcggc ctgcagaccc tgccaggggg tttgaggacc ctcccaggtt
     2881 tcccactgcg gaacaggagt gactctggct gccaagatac cttcatggtg ttcatgacaa
     2941 gtggaatcat tattttcaac cattgaaggg ggatgcaggc aagacacctt cccagctgct
     3001 cctagagggg acaagccagg ccctctctgc agtcctcggc agctccggaa ggacacagtc
     3061 aggggccggg caaacacttt ggccacagcc ccaaacaagc gccaccgtgg gagaggagag
     3121 gctgctgtca ctggtaccgg atgcagaccc caccctgtct gcaggccacc cccacctccc
     3181 tgcagctttg aggctggcgg ggtctgctcc tgggaatggg gtgggagcca cagggacgac
     3241 ccggggcggg ctgatgtctt cttgggggca gaccagagag ctcaagtttc agagtcagaa
     3301 ttaggcactt ggagcgtttt tgctggcttg cactttctta ttttcttatt ttagagcgct
     3361 taaaaaatcc ggaaaaatgg ggtttaaaag aactgtctct ttcagtctac atttttgttt
     3421 aatacgcttg agcaataaac gctgacttgc agacgtg
//
