LOCUS       NM_020533               2084 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens mucolipin TRP cation channel 1 (MCOLN1), mRNA.
ACCESSION   NM_020533
VERSION     NM_020533.3
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 2084)
  AUTHORS   Saffi,G.T., To,L., Kleine,N., Melo,C.M.P., Chen,K., Genc,G.,
            Lee,K.C.D., Chow,J.T., Jang,G.H., Gallinger,S., Botelho,R.J. and
            Salmena,L.
  TITLE     INPP4B promotes PDAC aggressiveness via PIKfyve and
            TRPML-1-mediated lysosomal exocytosis
  JOURNAL   J Cell Biol 223 (11) (2024)
   PUBMED   39120584
  REMARK    GeneRIF: INPP4B promotes PDAC aggressiveness via PIKfyve and
            TRPML-1-mediated lysosomal exocytosis.
REFERENCE   2  (bases 1 to 2084)
  AUTHORS   Mueller,A.U., Andersen,G., Richter,P. and Somoza,V.
  TITLE     Activation of the TRPML1 Ion Channel Induces Proton Secretion in
            the Human Gastric Parietal Cell Line HGT-1
  JOURNAL   Int J Mol Sci 25 (16), 8829 (2024)
   PUBMED   39201515
  REMARK    GeneRIF: Activation of the TRPML1 Ion Channel Induces Proton
            Secretion in the Human Gastric Parietal Cell Line HGT-1.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2084)
  AUTHORS   Wunkhaus,D., Tang,R., Nyame,K., Laqtom,N.N., Schweizer,M., Scotto
            Rosato,A., Krogsaeter,E.K., Wollnik,C., Abu-Remaileh,M., Grimm,C.,
            Hermey,G., Kuhn,R., Gruber-Schoffnegger,D. and Markmann,S.
  TITLE     TRPML1 activation ameliorates lysosomal phenotypes in CLN3
            deficient retinal pigment epithelial cells
  JOURNAL   Sci Rep 14 (1), 17469 (2024)
   PUBMED   39080379
  REMARK    GeneRIF: TRPML1 activation ameliorates lysosomal phenotypes in CLN3
            deficient retinal pigment epithelial cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2084)
  AUTHORS   LaPlante,J.M., Falardeau,J., Sun,M., Kanazirska,M., Brown,E.M.,
            Slaugenhaupt,S.A. and Vassilev,P.M.
  TITLE     Identification and characterization of the single channel function
            of human mucolipin-1 implicated in mucolipidosis type IV, a
            disorder affecting the lysosomal pathway
  JOURNAL   FEBS Lett 532 (1-2), 183-187 (2002)
   PUBMED   12459486
  REMARK    GeneRIF: Characterization of the conductance properties of
            mucolipin-1 in the presence of cations.
REFERENCE   5  (bases 1 to 2084)
  AUTHORS   Bassi,M.T., Manzoni,M., Monti,E., Pizzo,M.T., Ballabio,A. and
            Borsani,G.
  TITLE     Cloning of the gene encoding a novel integral membrane protein,
            mucolipidin-and identification of the two major founder mutations
            causing mucolipidosis type IV
  JOURNAL   Am J Hum Genet 67 (5), 1110-1120 (2000)
   PUBMED   11013137
REFERENCE   6  (bases 1 to 2084)
  AUTHORS   Sun,M., Goldin,E., Stahl,S., Falardeau,J.L., Kennedy,J.C.,
            Acierno,J.S. Jr., Bove,C., Kaneski,C.R., Nagle,J., Bromley,M.C.,
            Colman,M., Schiffmann,R. and Slaugenhaupt,S.A.
  TITLE     Mucolipidosis type IV is caused by mutations in a gene encoding a
            novel transient receptor potential channel
  JOURNAL   Hum Mol Genet 9 (17), 2471-2478 (2000)
   PUBMED   11030752
REFERENCE   7  (bases 1 to 2084)
  AUTHORS   Bargal,R., Avidan,N., Ben-Asher,E., Olender,Z., Zeigler,M.,
            Frumkin,A., Raas-Rothschild,A., Glusman,G., Lancet,D. and Bach,G.
  TITLE     Identification of the gene causing mucolipidosis type IV
  JOURNAL   Nat Genet 26 (1), 118-123 (2000)
   PUBMED   10973263
REFERENCE   8  (bases 1 to 2084)
  AUTHORS   Slaugenhaupt,S.A., Acierno,J.S. Jr., Helbling,L.A., Bove,C.,
            Goldin,E., Bach,G., Schiffmann,R. and Gusella,J.F.
  TITLE     Mapping of the mucolipidosis type IV gene to chromosome 19p and
            definition of founder haplotypes
  JOURNAL   Am J Hum Genet 65 (3), 773-778 (1999)
   PUBMED   10441585
REFERENCE   9  (bases 1 to 2084)
  AUTHORS   Misko,A., Grishchuk,Y., Goldin,E. and Schiffmann,R.
  TITLE     Mucolipidosis IV
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301393
REFERENCE   10 (bases 1 to 2084)
  AUTHORS   Dautry-Varsat,A.
  TITLE     Receptor-mediated endocytosis: the intracellular journey of
            transferrin and its receptor
  JOURNAL   Biochimie 68 (3), 375-381 (1986)
   PUBMED   2874839
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC356874.1, BC005149.2 and
            AA831948.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_020533.2.
            
            Summary: This gene encodes a memberof the transient receptor
            potential (TRP) cation channel gene family. The transmembrane
            protein localizes to intracellular vesicular membranes including
            lysosomes, and functions in the late endocytic pathway and in the
            regulation of lysosomal exocytosis. The channel is permeable to
            Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes
            in Ca(2+) concentration. Mutations in this gene result in
            mucolipidosis type IV. [provided by RefSeq, Oct 2009].
            
            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 :: SRR3476690.642112.1, BC005149.2
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264079.11/ ENSP00000264079.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 DC356874.1         18-21
            5-2065              BC005149.2         1-2061
            2066-2084           AA831948.1         53-71               c
FEATURES             Location/Qualifiers
     source          1..2084
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.2"
     gene            1..2084
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /note="mucolipin TRP cation channel 1"
                     /db_xref="GeneID:57192"
                     /db_xref="HGNC:HGNC:13356"
                     /db_xref="MIM:605248"
     exon            1..158
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     CDS             128..1870
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /note="mucolipidin; mucolipidosis type IV protein;
                     transient receptor potential channel mucolipin 1;
                     transient receptor potential cation channel mucolipin
                     subfamily member 1; transient receptor potential mucolipin
                     1"
                     /codon_start=1
                     /product="mucolipin-1"
                     /protein_id="NP_065394.1"
                     /db_xref="CCDS:CCDS12180.1"
                     /db_xref="GeneID:57192"
                     /db_xref="HGNC:HGNC:13356"
                     /db_xref="MIM:605248"
                     /translation="MTAPAGPRGSETERLLTPNPGYGTQAGPSPAPPTPPEEEDLRRR
                     LKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLAVTFREENTIAFR
                     HLFLLGYSDGADDTFAAYTREQLYQAIFHAVDQYLALPDVSLGRYAYVRGGGDPWTNG
                     SGLALCQRYYHRGHVDPANDTFDIDPMVVTDCIQVDPPERPPPPPSDDLTLLESSSSY
                     KNLTLKFHKLVNVTIHFRLKTINLQSLINNEIPDCYTFSVLITFDNKAHSGRIPISLE
                     TQAHIQECKHPSVFQHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVGFM
                     WRQRGRVISLWERLEFVNGWYILLVTSDVLTISGTIMKIGIEAKNLASYDVCSILLGT
                     STLLVWVGVIRYLTFFHNYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPY
                     HVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGRSSLVWLFSQLYLYSFISLFIYM
                     VLSLFIALITGAYDTIKHPGGAGAEESELQAYIAQCQDSPTSGKFRRGSGSACSLLCC
                     CGRDPSEEHSLLVN"
     exon            159..364
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            365..532
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            533..698
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            699..807
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            808..904
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1004
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1111
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1261
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1262..1363
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1486
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1487..1702
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1833
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1834..2084
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2048..2053
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /note="hexamer: AATAAA"
     regulatory      2060..2065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /note="hexamer: AATAAA"
     polyA_site      2065
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
                     /note="major polyA site"
     polyA_site      2084
                     /gene="MCOLN1"
                     /gene_synonym="LECD; MG-2; ML1; ML4; MLIV; MST080;
                     MSTP080; TRP-ML1; TRPM-L1; TRPML1"
ORIGIN      
        1 acagatcagc tgatgccgga gggtttgaag ccgcgccgcg agggagcgag gtcgcagtga
       61 cagcggcggg cgatcggacc caggctgccc cgccgtaccc gcctgcgtcc cgcgctcccg
      121 ccccagcatg acagccccgg cgggtccgcg cggctcagag accgagcggc ttctgacccc
      181 caaccccggg tatgggaccc aggcggggcc ttcaccggcc cctccgacac ccccagaaga
      241 ggaagacctt cgccgtcgtc tcaaatactt tttcatgagt ccctgcgaca agtttcgagc
      301 caagggccgc aagccctgca agctgatgct gcaagtggtc aagatcctgg tggtcacggt
      361 gcagctcatc ctgtttgggc tcagtaatca gctggctgtg acattccggg aagagaacac
      421 catcgccttc cgacacctct tcctgctggg ctactcggac ggagcggatg acaccttcgc
      481 agcctacacg cgggagcagc tgtaccaggc catcttccat gctgtggacc agtacctggc
      541 gttgcctgac gtgtcactgg gccggtatgc gtatgtccgt ggtgggggtg acccttggac
      601 caatggctca gggcttgctc tctgccagcg gtactaccac cgaggccacg tggacccggc
      661 caacgacaca tttgacattg atccgatggt ggttactgac tgcatccagg tggatccccc
      721 cgagcggccc cctccgcccc ccagcgacga tctcaccctc ttggaaagca gctccagtta
      781 caagaacctc acgctcaaat tccacaagct ggtcaatgtc accatccact tccggctgaa
      841 gaccattaac ctccagagcc tcatcaataa tgagatcccg gactgctata ccttcagcgt
      901 cctgatcacg tttgacaaca aagcacacag tgggcggatc cccatcagcc tggagaccca
      961 ggcccacatc caggagtgta agcaccccag tgtcttccag cacggagaca acagcttccg
     1021 gctcctgttt gacgtggtgg tcatcctcac ctgctccctg tccttcctcc tctgcgcccg
     1081 ctcactcctt cgaggcttcc tgctgcagaa cgagtttgtg gggttcatgt ggcggcagcg
     1141 gggacgggtc atcagcctgt gggagcggct ggaatttgtc aatggctggt acatcctgct
     1201 cgtcaccagc gatgtgctca ccatctcggg caccatcatg aagatcggca tcgaggccaa
     1261 gaacttggcg agctacgacg tctgcagcat cctcctgggc acctcgacgc tgctggtgtg
     1321 ggtgggcgtg atccgctacc tgaccttctt ccacaactac aatatcctca tcgccacact
     1381 gcgggtggcc ctgcccagcg tcatgcgctt ctgctgctgc gtggctgtca tctacctggg
     1441 ctactgcttc tgtggctgga tcgtgctggg gccctatcat gtgaagttcc gctcactctc
     1501 catggtgtct gagtgcctgt tctcgctcat caatggggac gacatgtttg tgacgttcgc
     1561 cgccatgcag gcgcagcagg gccgcagcag cctggtgtgg ctcttctccc agctctacct
     1621 ttactccttc atcagcctct tcatctacat ggtgctcagc ctcttcatcg cgctcatcac
     1681 cggcgcctac gacaccatca agcatcccgg cggcgcaggc gcagaggaga gcgagctgca
     1741 ggcctacatc gcacagtgcc aggacagccc cacctccggc aagttccgcc gcgggagcgg
     1801 ctcggcctgc agccttctct gctgctgcgg aagggacccc tcggaggagc attcgctgct
     1861 ggtgaattga ttcgacctga ctgccgttgg accgtaggcc ctggactgca gagacccccg
     1921 cccccgaccc cgcttattta tttgtagggt ttgcttttaa ggatcggctc cctgtcgcgc
     1981 ccgaggaggg cctggacctt tcgtgtcgga cccttggggg cggggagact gggtggggag
     2041 ggtgttgaat aaaagggaaa ataaatgtgt cgttttcatt ttta
//
