LOCUS       NM_018298               2810 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens mucolipin TRP cation channel 3 (MCOLN3), transcript
            variant 1, mRNA.
ACCESSION   NM_018298
VERSION     NM_018298.11
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 2810)
  AUTHORS   Kim,S.W., Kim,D.H., Park,K.S., Kim,M.K., Park,Y.M., Muallem,S.,
            So,I. and Kim,H.J.
  TITLE     Palmitoylation controls trafficking of the intracellular Ca2+
            channel MCOLN3/TRPML3 to regulate autophagy
  JOURNAL   Autophagy 15 (2), 327-340 (2019)
   PUBMED   30215288
  REMARK    GeneRIF: palmitoylation is a prerequisite for the function of
            MCOLN3/TRPML3 as a Ca(2+) channel in autophagosome formation.
REFERENCE   2  (bases 1 to 2810)
  AUTHORS   Schmiege,P., Fine,M. and Li,X.
  TITLE     The regulatory mechanism of mammalian TRPMLs revealed by cryo-EM
  JOURNAL   FEBS J 285 (14), 2579-2585 (2018)
   PUBMED   29577631
  REMARK    GeneRIF: The work elucidates the molecular architecture and
            provides insights into how multiple ligands regulate TRPML1 and
            TRPML3. (Review)
            Review article
REFERENCE   3  (bases 1 to 2810)
  AUTHORS   Choi,S. and Kim,H.J.
  TITLE     The Ca2+ channel TRPML3 specifically interacts with the mammalian
            ATG8 homologue GATE16 to regulate autophagy
  JOURNAL   Biochem Biophys Res Commun 443 (1), 56-61 (2014)
   PUBMED   24269818
  REMARK    GeneRIF: these results suggest that TRPML3 plays a role in
            autophagosome maturation through the interaction with GATE16, by
            providing Ca(2+) in the fusion process.
REFERENCE   4  (bases 1 to 2810)
  AUTHORS   Guo,Z., Grimm,C., Becker,L., Ricci,A.J. and Heller,S.
  TITLE     A novel ion channel formed by interaction of TRPML3 with TRPV5
  JOURNAL   PLoS One 8 (2), e58174 (2013)
   PUBMED   23469151
  REMARK    GeneRIF: TRPML3 and TRPV5 heteromers could have a biological
            function
REFERENCE   5  (bases 1 to 2810)
  AUTHORS   Grimm,C., Jors,S., Guo,Z., Obukhov,A.G. and Heller,S.
  TITLE     Constitutive activity of TRPML2 and TRPML3 channels versus
            activation by low extracellular sodium and small molecules
  JOURNAL   J Biol Chem 287 (27), 22701-22708 (2012)
   PUBMED   22753890
  REMARK    GeneRIF: Negatively charged amino acids in the extracellular loops
            of TRPML3 may interfere with the observed sodium inhibition.
REFERENCE   6  (bases 1 to 2810)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 2810)
  AUTHORS   Venkatachalam,K., Hofmann,T. and Montell,C.
  TITLE     Lysosomal localization of TRPML3 depends on TRPML2 and the
            mucolipidosis-associated protein TRPML1
  JOURNAL   J Biol Chem 281 (25), 17517-17527 (2006)
   PUBMED   16606612
  REMARK    GeneRIF: there is a hierarchy controlling the subcellular
            distributions of the TRPMLs such that TRPML1 and TRPML2 dictate the
            localization of TRPML3 and not vice versa
REFERENCE   8  (bases 1 to 2810)
  AUTHORS   Clapham,D.E., Julius,D., Montell,C. and Schultz,G.
  TITLE     International Union of Pharmacology. XLIX. Nomenclature and
            structure-function relationships of transient receptor potential
            channels
  JOURNAL   Pharmacol Rev 57 (4), 427-450 (2005)
   PUBMED   16382100
  REMARK    Review article
REFERENCE   9  (bases 1 to 2810)
  AUTHORS   Di Palma,F., Belyantseva,I.A., Kim,H.J., Vogt,T.F., Kachar,B. and
            Noben-Trauth,K.
  TITLE     Mutations in Mcoln3 associated with deafness and pigmentation
            defects in varitint-waddler (Va) mice
  JOURNAL   Proc Natl Acad Sci U S A 99 (23), 14994-14999 (2002)
   PUBMED   12403827
REFERENCE   10 (bases 1 to 2810)
  AUTHORS   Fares,H. and Greenwald,I.
  TITLE     Regulation of endocytosis by CUP-5, the Caenorhabditis elegans
            mucolipin-1 homolog
  JOURNAL   Nat Genet 28 (1), 64-68 (2001)
   PUBMED   11326278
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BP358726.1, BX647497.1, AF475085.1, W03483.1, BQ006750.1,
            CB159774.1 and BU634119.1.
            
            On Nov 23, 2018 this sequence version replaced NM_018298.10.
            
            Summary: This gene encodes one of members of the mucolipin cation
            channel proteins. Mutation studies of the highly similar protein in
            mice have shown that the protein is found in cochlea hair cells,
            and mutant mice show early-onset hearing loss and balance problems.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (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##
            Transcript exon combination :: AK314354.1, AK292206.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370589.7/ ENSP00000359621.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-14                BP358726.1         41-54
            15-105              BX647497.1         14-104
            106-1860            AF475085.1         52-1806
            1861-2093           W03483.1           110-342
            2094-2108           BQ006750.1         720-734             c
            2109-2203           CB159774.1         5-99
            2204-2810           BU634119.1         18-624              c
FEATURES             Location/Qualifiers
     source          1..2810
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.3"
     gene            1..2810
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /note="mucolipin TRP cation channel 3"
                     /db_xref="GeneID:55283"
                     /db_xref="HGNC:HGNC:13358"
                     /db_xref="MIM:607400"
     exon            1..105
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            106..335
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1769
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transient receptor potential channel mucolipin 3"
                     /codon_start=1
                     /product="mucolipin-3 isoform 1"
                     /protein_id="NP_060768.8"
                     /db_xref="CCDS:CCDS701.1"
                     /db_xref="GeneID:55283"
                     /db_xref="HGNC:HGNC:13358"
                     /db_xref="MIM:607400"
                     /translation="MADPEVVVSSCSSHEEENRCNFNQQTSPSEELLLEDQMRRKLKF
                     FFMNPCEKFWARGRKPWKLAIQILKIAMVTIQLVLFGLSNQMVVAFKEENTIAFKHLF
                     LKGYMDRMDDTYAVYTQSDVYDQLIFAVNQYLQLYNVSVGNHAYENKGTKQSAMAICQ
                     HFYKRGNIYPGNDTFDIDPEIETECFFVEPDEPFHIGTPAENKLNLTLDFHRLLTVEL
                     QFKLKAINLQTVRHQELPDCYDFTLTITFDNKAHSGRIKISLDNDISIRECKDWHVSG
                     SIQKNTHYMMIFDAFVILTCLVSLILCIRSVIRGLQLQQEFVNFFLLHYKKEVSVSDQ
                     MEFVNGWYIMIIISDILTIIGSILKMEIQAKSLTSYDVCSILLGTSTMLVWLGVIRYL
                     GFFAKYNLLILTLQAALPNVIRFCCCAAMIYLGYCFCGWIVLGPYHDKFRSLNMVSEC
                     LFSLINGDDMFATFAKMQQKSYLVWLFSRIYLYSFISLFIYMILSLFIALITDTYETI
                     KQYQQDGFPETELRTFISECKDLPNSGKYRLEDDPPVSLFCCCKK"
     exon            336..503
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            504..657
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            658..742
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            743..839
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            840..939
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1052
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1202
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            1203..1304
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            1305..1427
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1634
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     exon            1635..2810
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1987
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
     regulatory      2789..2794
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /note="hexamer: ATTAAA"
     polyA_site      2810
                     /gene="MCOLN3"
                     /gene_synonym="TRP-ML3; TRPML3"
                     /note="major polyA site"
ORIGIN      
        1 gactctgggc ggagcggggc tcgaggctgc tggagtcgct cgctgactcg ccctgcgccc
       61 tcgccgcgga caccggagct gcggccgctc cccgctgtcc cccagagatg gcagatcctg
      121 aggtagttgt gagtagctgc agctctcatg aagaggaaaa tcgctgcaat tttaaccagc
      181 aaacatctcc atctgaggag cttctattag aagaccagat gaggcgaaaa ctcaaatttt
      241 ttttcatgaa tccctgtgag aagttctggg ctcgaggtag aaaaccatgg aaacttgcca
      301 tacaaattct aaaaattgca atggtgacta tccagctggt cttatttggg ctaagtaacc
      361 agatggtggt agctttcaag gaagagaata ctatagcatt caaacacctt ttcctaaaag
      421 gatatatgga ccgaatggat gacacatatg cagtgtacac acaaagtgac gtgtatgatc
      481 agttaatctt cgcagtaaac cagtacttgc agctatacaa tgtctccgtt gggaatcatg
      541 cttatgagaa caaaggtacc aagcaatctg ctatggcaat ctgtcagcac ttctacaagc
      601 gaggaaacat ctaccctgga aatgatacct ttgacatcga tccagaaatt gaaactgagt
      661 gtttctttgt ggagccagat gaaccttttc acattgggac accagcagaa aataaactga
      721 acttaacact ggacttccac agactcctaa cagtggagct tcagtttaaa ctgaaagcca
      781 ttaatctgca gacagttcgt catcaagaac tccctgactg ttatgacttt actctgacta
      841 taacatttga caacaaggcc catagtggaa gaattaaaat aagtttagat aatgacattt
      901 ccatcagaga atgtaaagac tggcatgtat ctggatcaat tcagaagaac actcattaca
      961 tgatgatctt tgatgccttt gtcattctga cttgcttggt ttcattaatc ctctgcatta
     1021 gatctgtgat tagaggactt cagcttcagc aggagtttgt caattttttc ctcctccatt
     1081 ataagaagga agtttctgtt tctgatcaaa tggaatttgt caatggatgg tacattatga
     1141 ttattattag tgacatattg acaatcattg gatcaattct aaaaatggaa atccaagcta
     1201 agagtctaac tagttatgat gtctgtagca tacttcttgg gacttctacc atgctcgtgt
     1261 ggcttggagt catccgatac ctcggtttct ttgcaaagta caacctcctc attttgaccc
     1321 ttcaggcagc gctgcccaat gtcatcaggt tctgctgctg tgcagctatg atttacttag
     1381 gttactgctt ctgtggatgg atcgtgctgg ggccttacca tgacaagttt cgttctctga
     1441 acatggtctc tgagtgcctt ttctctctga taaatggaga tgatatgttt gccacgtttg
     1501 caaaaatgca gcaaaaaagt tacttagtct ggctgtttag tagaatttac ctctactcat
     1561 tcatcagcct ctttatatat atgattttaa gtcttttcat tgcactgatc actgatacat
     1621 acgaaacaat taagcaatac caacaagatg gcttcccaga gactgaactt cgtacattta
     1681 tatcagaatg caaagatcta cccaactctg gaaaatacag attagaagat gaccctccag
     1741 tatctttatt ctgctgttgt aaaaagtagc tatcaggttt atctgtactt tagaggaaaa
     1801 tataatgtgt agctgagttg gaacactgtg gatattctga gatcagatgt agtatgtttg
     1861 aagactgtta ttttgagcta attgagacct ataattcacc aataactgtt tatattttta
     1921 aaagcaatat ttaatgtctt tgcaacttta tgctgggatt gtttttaaaa aaactttaat
     1981 gaggaaagct attggattat tattatttct tgtttatttt gccatggctt tagaatgtat
     2041 tctgtatgcc tctcttttgc tctgatactg ttgctcctgc tattctgatt gtgcagactg
     2101 tgtaattagt ggaaaacaat ccttggtctg actgtgactt tggacaactc agtaaccctg
     2161 gcttggacca ctctcaggag tccatccttg agagagtggg tgtagttatc atttatacag
     2221 taatcattgc attttaaaat cttctcttga aaggaagaat aagagtgcac cagaataaga
     2281 gcgcaccaga ataagagcgc accagctaac aatgtgatac ggccatatgt cacttaagga
     2341 tggagatatg ttctgagaaa tgtgtcatta ggcgattttg tcattaaaca tcatagcatg
     2401 tacttccaca aacctagatg gtatagccta ctacacacct aggctatttg gtatagcctg
     2461 ttggtcctgg ggtacaaatc tgtacaacat gttactgtat tgaatacagt aggcaattgt
     2521 aacacaatgg taagtatcta aacatagaaa agggacagta aaaatatggt tttataatct
     2581 tctgggacca ccattgtata tgcggtacat cattgaccaa aacatcgtta tccagcatat
     2641 gactgtattt ggttatgaaa gccaactgtt acttgattct gcttttagtt cttaagagga
     2701 tcaggctttt aaatactcat ttacaagttt tctatcctcc ttcagtgtta aagtagaaag
     2761 taaaaagagt atcttataca tgcatgaaat taaagcatat accaaatgca
//
