LOCUS       NM_053177               2039 bp    mRNA    linear   ROD 11-SEP-2024
DEFINITION  Mus musculus mucolipin 1 (Mcoln1), mRNA.
ACCESSION   NM_053177
VERSION     NM_053177.1
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 2039)
  AUTHORS   Liu,M.J., Zhao,Y., Li,Q.T., Lei,X.Y., He,K.Y., Guo,J.R., Yang,J.Y.,
            Yan,Z.H., Wu,D.H., Zhang,L., Jian,Y.P. and Xu,Z.X.
  TITLE     HMGA1 promotes the progression of esophageal squamous cell
            carcinoma by elevating TKT-mediated upregulation of pentose
            phosphate pathway
  JOURNAL   Cell Death Dis 15 (7), 541 (2024)
   PUBMED   39080260
  REMARK    GeneRIF: HMGA1 promotes the progression of esophageal squamous cell
            carcinoma by elevating TKT-mediated upregulation of pentose
            phosphate pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2039)
  AUTHORS   Zhang,H.L., Hu,B.X., Ye,Z.P., Li,Z.L., Liu,S., Zhong,W.Q., Du,T.,
            Yang,D., Mai,J., Li,L.C., Chen,Y.H., Zhu,X.Y., Li,X., Feng,G.K.,
            Zhu,X.F. and Deng,R.
  TITLE     TRPML1 triggers ferroptosis defense and is a potential therapeutic
            target in AKT-hyperactivated cancer
  JOURNAL   Sci Transl Med 16 (753), eadk0330 (2024)
   PUBMED   38924427
  REMARK    GeneRIF: TRPML1 triggers ferroptosis defense and is a potential
            therapeutic target in AKT-hyperactivated cancer.
REFERENCE   3  (bases 1 to 2039)
  AUTHORS   Pastore,N., Annunziata,F., Colonna,R., Maffia,V., Giuliano,T.,
            Custode,B.M., Lombardi,B., Polishchuk,E., Cacace,V., De Stefano,L.,
            Nusco,E., Sorrentino,N.C., Piccolo,P. and Brunetti-Pierri,N.
  TITLE     Increased expression or activation of TRPML1 reduces hepatic
            storage of toxic Z alpha-1 antitrypsin
  JOURNAL   Mol Ther 31 (9), 2651-2661 (2023)
   PUBMED   37394797
  REMARK    GeneRIF: Increased expression or activation of TRPML1 reduces
            hepatic storage of toxic Z alpha-1 antitrypsin.
REFERENCE   4  (bases 1 to 2039)
  AUTHORS   Sangster,M., Shahriar,S., Niziolek,Z., Carisi,M.C., Lewandowski,M.,
            Budnik,B. and Grishchuk,Y.
  TITLE     Brain cell type specific proteomics approach to discover
            pathological mechanisms in the childhood CNS disorder mucolipidosis
            type IV
  JOURNAL   Front Mol Neurosci 16, 1215425 (2023)
   PUBMED   37609073
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2039)
  AUTHORS   Scorza,S.I., Milano,S., Saponara,I., Certini,M., De Zio,R.,
            Mola,M.G., Procino,G., Carmosino,M., Moccia,F., Svelto,M. and
            Gerbino,A.
  TITLE     TRPML1-Induced Lysosomal Ca2+ Signals Activate AQP2 Translocation
            and Water Flux in Renal Collecting Duct Cells
  JOURNAL   Int J Mol Sci 24 (2), 1647 (2023)
   PUBMED   36675161
  REMARK    GeneRIF: TRPML1-Induced Lysosomal Ca[2+] Signals Activate AQP2
            Translocation and Water Flux in Renal Collecting Duct Cells.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2039)
  AUTHORS   Munton,R.P., Tweedie-Cullen,R., Livingstone-Zatchej,M.,
            Weinandy,F., Waidelich,M., Longo,D., Gehrig,P., Potthast,F.,
            Rutishauser,D., Gerrits,B., Panse,C., Schlapbach,R. and Mansuy,I.M.
  TITLE     Qualitative and quantitative analyses of protein phosphorylation in
            naive and stimulated mouse synaptosomal preparations
  JOURNAL   Mol Cell Proteomics 6 (2), 283-293 (2007)
   PUBMED   17114649
REFERENCE   7  (bases 1 to 2039)
  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 2039)
  AUTHORS   Ramsey,I.S., Delling,M. and Clapham,D.E.
  TITLE     An introduction to TRP channels
  JOURNAL   Annu Rev Physiol 68, 619-647 (2006)
   PUBMED   16460286
  REMARK    Review article
REFERENCE   9  (bases 1 to 2039)
  AUTHORS   Ballif,B.A., Villen,J., Beausoleil,S.A., Schwartz,D. and Gygi,S.P.
  TITLE     Phosphoproteomic analysis of the developing mouse brain
  JOURNAL   Mol Cell Proteomics 3 (11), 1093-1101 (2004)
   PUBMED   15345747
REFERENCE   10 (bases 1 to 2039)
  AUTHORS   Falardeau,J.L., Kennedy,J.C., Acierno,J.S. Jr., Sun,M., Stahl,S.,
            Goldin,E. and Slaugenhaupt,S.A.
  TITLE     Cloning and characterization of the mouse Mcoln1 gene reveals an
            alternatively spliced transcript not seen in humans
  JOURNAL   BMC Genomics 3, 3 (2002)
   PUBMED   11897010
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC005651.1.
            
            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 :: BC005651.1, AF302009.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2039
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="NMRI"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 1.92 cM"
     gene            1..2039
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /note="mucolipin 1"
                     /db_xref="GeneID:94178"
                     /db_xref="MGI:MGI:1890498"
     exon            1..109
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     CDS             79..1821
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /note="transient receptor potential-mucolipin 1"
                     /codon_start=1
                     /product="mucolipin-1"
                     /protein_id="NP_444407.1"
                     /db_xref="CCDS:CCDS22063.1"
                     /db_xref="GeneID:94178"
                     /db_xref="MGI:MGI:1890498"
                     /translation="MATPAGRRASETERLLTPNPGYGTQVGTSPAPTTPTEEEDLRRR
                     LKYFFMSPCDKFRAKGRKPCKLMLQVVKILVVTVQLILFGLSNQLVVTFREENTIAFR
                     HLFLLGYSDGSDDTFAAYTQEQLYQAIFYAVDQYLILPEISLGRYAYVRGGGGPWANG
                     SALALCQRYYHRGHVDPANDTFDIDPRVVTDCIQVDPPDRPPDIPSEDLDFLDGSASY
                     KNLTLKFHKLINVTIHFQLKTINLQSLINNEIPDCYTFSILITFDNKAHSGRIPIRLE
                     TKTHIQECKHPSVSRHGDNSFRLLFDVVVILTCSLSFLLCARSLLRGFLLQNEFVVFM
                     WRRRGREISLWERLEFVNGWYILLVTSDVLTISGTVMKIGIEAKNLASYDVCSILLGT
                     STLLVWVGVIRYLTFFHKYNILIATLRVALPSVMRFCCCVAVIYLGYCFCGWIVLGPY
                     HVKFRSLSMVSECLFSLINGDDMFVTFAAMQAQQGHSSLVWLFSQLYLYSFISLFIYM
                     VLSLFIALITGAYDTIKHPGGTGTEKSELQAYIEQCQDSPTSGKFRRGSGSACSLFCC
                     CGRDSPEDHSLLVN"
     exon            110..315
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            316..483
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            484..649
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            650..758
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            759..855
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            856..955
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1062
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1212
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1213..1314
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1315..1437
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1653
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1654..1784
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     exon            1785..2003
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1986..1991
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /note="hexamer: AATAAA"
     polyA_site      2003
                     /gene="Mcoln1"
                     /gene_synonym="2210015I05Rik; mucolipidin; TRPML1"
                     /note="major polyA site"
ORIGIN      
        1 ggcgccggga gggagcgagg ctgcagtgac cgcggcgcgc gctgggaccc acccgcgtct
       61 cgcgctcacc ctgcggccat ggccaccccg gcgggccggc gcgcctcaga gactgagcgg
      121 ctgctgaccc ccaatcctgg gtatgggacc caggtgggga cctcaccagc cccaacaacc
      181 cccacagaag aggaagacct ccgccgccgc ctcaagtact tctttatgag cccatgtgac
      241 aagttccggg ccaaaggccg caagccctgc aagctgatgc tgcaggtggt caagatcttg
      301 gtggtcactg tgcagctcat tctctttggg ctcagcaacc agctggtggt gacattccgg
      361 gaagagaaca ccattgcctt ccgacatctc ttcctgctgg gttactctga tgggtctgat
      421 gacacctttg cagcctacac acaggagcag ctctaccaag ccatcttcta tgctgtggac
      481 cagtacctga tactacctga gatatccctg ggccggtatg cctatgtccg tggtgggggt
      541 gggccttggg ccaatggatc agctttggct ctctgccagc ggtactacca ccgtggccat
      601 gtggacccag ccaatgatac ctttgacatt gatccaaggg tagtcactga ctgtatccag
      661 gtggatcctc ctgacagacc ccctgacatc cccagtgagg acttggactt cttggatggc
      721 agcgccagtt acaagaacct cacactgaaa ttccacaagc tgatcaacgt caccatccac
      781 ttccagctga agacaattaa cctgcagagc ctcatcaaca atgagatccc tgattgttac
      841 accttcagta tcctgatcac atttgacaat aaagcgcaca gtgggcgaat ccccatccgc
      901 ctggagacca agacccacat ccaggagtgc aaacacccca gtgtctccag acatggagac
      961 aacagcttcc ggcttctgtt tgatgtggtg gttatcctca cctgctccct gtccttcctg
     1021 ctgtgcgccc gctcactgct ccgtggcttc ctgctgcaga acgagtttgt tgtattcatg
     1081 tggcggcggc ggggtcggga aatcagcctc tgggaacggc tggagtttgt caatggctgg
     1141 tacatcctgc tggtcaccag tgacgtgctc accatctcgg ggactgtcat gaagattggc
     1201 attgaggcaa agaacctagc cagctatgat gtctgcagta ttctcttggg tacctccact
     1261 ctgctagtct gggtcggtgt cattcgctac ctgacatttt tccacaagta caacatcttg
     1321 attgccacgt tgcgagtggc actgcccagt gtcatgcgtt tctgctgctg tgtggctgtc
     1381 atctacctgg gctattgctt ctgtggctgg atcgttctag ggccctacca tgtgaagttc
     1441 cgctcgctgt ccatggtttc tgagtgtctg ttctcactca tcaacggaga cgacatgttt
     1501 gtgacgttcg cggccatgca ggcccagcag ggtcacagca gcctggtgtg gctcttctcc
     1561 cagctgtacc tctactcctt catcagcctc ttcatctaca tggtgctgag cctcttcatt
     1621 gcactcatca ccggcgccta tgacaccatc aagcacccag gaggtactgg cacagagaag
     1681 agtgagctcc aggcctacat cgagcagtgc caggatagcc ccacatctgg caagttccgt
     1741 cgtggcagtg gctcagcttg tagccttttc tgctgctgtg gaagggactc cccggaggac
     1801 cattcgctgc tggtgaactg atccaagatg attgccacta gactttatcc ccatgtactg
     1861 ctgggacccc agcttattta tttttagaat ttgctttaaa agatctgcgt ctgacaggcc
     1921 ttgtgagggc ttgggctgat cgaatcggac acaggggaaa gggagggcat gtagggcggc
     1981 tgttaaataa aagggaatgt aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaaaaaaa
//
