LOCUS       NM_008720               5209 bp    mRNA    linear   ROD 15-OCT-2024
DEFINITION  Mus musculus NPC intracellular cholesterol transporter 1 (Npc1),
            mRNA.
ACCESSION   NM_008720
VERSION     NM_008720.2
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 5209)
  AUTHORS   Sanchez,K.L., Shin,S.D., Rajagopal,N.P., White,J.B., Currais,A.,
            Soriano-Castell,D., Maher,P. and Soriano,S.
  TITLE     A Potential Role for the Amyloid Precursor Protein in the
            Regulation of Interferon Signaling, Cholesterol Homeostasis, and
            Tau Phosphorylation in Niemann-Pick Disease Type C
  JOURNAL   Genes (Basel) 15 (8), 1066 (2024)
   PUBMED   39202426
  REMARK    GeneRIF: A Potential Role for the Amyloid Precursor Protein in the
            Regulation of Interferon Signaling, Cholesterol Homeostasis, and
            Tau Phosphorylation in Niemann-Pick Disease Type C.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5209)
  AUTHORS   Fabiano,M., Oikawa,N., Kerksiek,A., Furukawa,J.I., Yagi,H.,
            Kato,K., Schweizer,U., Annaert,W., Kang,J., Shen,J., Lutjohann,D.
            and Walter,J.
  TITLE     Presenilin Deficiency Results in Cellular Cholesterol Accumulation
            by Impairment of Protein Glycosylation and NPC1 Function
  JOURNAL   Int J Mol Sci 25 (10), 5417 (2024)
   PUBMED   38791456
  REMARK    GeneRIF: Presenilin Deficiency Results in Cellular Cholesterol
            Accumulation by Impairment of Protein Glycosylation and NPC1
            Function.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5209)
  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   4  (bases 1 to 5209)
  AUTHORS   Nunes,M.J., Carvalho,A.N., Reis,J., Costa,D., Moutinho,M.,
            Mateus,J., Mendes de Almeida,R., Brito,S., Risso,D., Nunes,S.,
            Castro-Caldas,M., Gama,M.J., Rodrigues,C.M.P., Xapelli,S.,
            Diogenes,M.J., Cartier,N., Chali,F., Piguet,F. and Rodrigues,E.
  TITLE     Cholesterol redistribution triggered by CYP46A1 gene therapy
            improves major hallmarks of Niemann-Pick type C disease but is not
            sufficient to halt neurodegeneration
  JOURNAL   Biochim Biophys Acta Mol Basis Dis 1870 (3), 166993 (2024)
   PUBMED   38142760
REFERENCE   5  (bases 1 to 5209)
  AUTHORS   Liu,B., Hua,D., Shen,L., Li,T., Tao,Z., Fu,C., Tang,Z., Yang,J.,
            Zhang,L., Nie,A., Jiang,Y., Wang,J., Li,Y., Gu,Y. and Ning,G.
  TITLE     NPC1 is required for postnatal islet beta cell differentiation by
            maintaining mitochondria turnover
  JOURNAL   Theranostics 14 (5), 2058-2074 (2024)
   PUBMED   38505613
  REMARK    GeneRIF: NPC1 is required for postnatal islet beta cell
            differentiation by maintaining mitochondria turnover.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5209)
  AUTHORS   Ohno,K., Nanba,E., Miyawaki,S., Sakiyama,T., Kitagawa,T. and
            Takeshita,K.
  TITLE     A cell line derived from sphingomyelinosis mouse shows alterations
            in intracellular cholesterol metabolism similar to those in type C
            Niemann-Pick disease
  JOURNAL   Cell Struct Funct 17 (4), 229-235 (1992)
   PUBMED   1394466
REFERENCE   7  (bases 1 to 5209)
  AUTHORS   Weintraub,H., Abramovici,A., Amichai,D., Eldar,T., Ben-Dor,L.,
            Pentchev,P.G. and Hammel,I.
  TITLE     Morphometric studies of pancreatic acinar granule formation in
            NCTR-Balb/c mice
  JOURNAL   J Cell Sci 102 (Pt 1), 141-147 (1992)
   PUBMED   1500436
REFERENCE   8  (bases 1 to 5209)
  AUTHORS   Sakai,Y., Miyawaki,S., Shimizu,A., Ohno,K. and Watanabe,T.
  TITLE     A molecular genetic linkage map of mouse chromosome 18, including
            spm, Grl-1, Fim-2/c-fms, and Mbp
  JOURNAL   Biochem Genet 29 (1-2), 103-113 (1991)
   PUBMED   1679325
REFERENCE   9  (bases 1 to 5209)
  AUTHORS   Patel,S.C., Suresh,S., Weintroub,H., Brady,R.O. and Pentchev,P.G.
  TITLE     Impaired cholesterol esterification in primary brain cultures of
            the lysosomal cholesterol storage disorder (LCSD) mouse mutant
  JOURNAL   Biochem Biophys Res Commun 143 (1), 233-240 (1987)
   PUBMED   3827919
REFERENCE   10 (bases 1 to 5209)
  AUTHORS   Miyawaki,S., Yoshida,H., Mitsuoka,S., Enomoto,H. and Ikehara,S.
  TITLE     A mouse model for Niemann-Pick disease. Influence of genetic
            background on disease expression in spm/spm mice
  JOURNAL   J Hered 77 (6), 379-384 (1986)
   PUBMED   3559164
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC052437.1, CF585180.1 and AK003935.1.
            
            On Mar 7, 2006 this sequence version replaced NM_008720.1.
            
            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 :: BC054539.1, AF003348.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3962              BC052437.1         1-3962
            3963-3982           CF585180.1         65-84
            3983-5002           BC052437.1         3983-5002
            5003-5209           AK003935.1         866-1072
FEATURES             Location/Qualifiers
     source          1..5209
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="18"
                     /map="18 6.15 cM"
     gene            1..5209
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /note="NPC intracellular cholesterol transporter 1"
                     /db_xref="GeneID:18145"
                     /db_xref="MGI:MGI:1097712"
     exon            1..206
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            207..329
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            330..436
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            437..612
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            613..780
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            781..1030
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1104
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1475
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            1476..1702
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            1703..1803
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            1804..1906
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            1907..2096
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2097..2279
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2280..2394
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..2522
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2523..2663
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2664..2753
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2754..2944
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            2945..3060
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            3061..3190
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            3191..3391
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            3392..3623
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            3624..3737
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            3738..3900
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
     exon            3901..5209
                     /gene="Npc1"
                     /gene_synonym="A430089E03Rik; D18Ertd139e; D18Ertd723e;
                     lcsd; nmf164; spm"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 ccttcctgcc ttgcgcacac agtccgccgt ctgctcttgc cccctccttg gtcaggcgcc
       61 ggttccgaaa ccgcccgcca gtgccgcgac gctcgggtcg cggtgctccg cgagccgaac
      121 tgagagctgt agccccgcgc ggcgacagca tgggtgcgca ccacccggcc ctcggcctgc
      181 tgctgctgct gctgtgccct gcgcaggtgt tttcgcaatc ctgtgtttgg tatggagagt
      241 gtggaattgc gactggagat aagaggtaca actgtaaata ttctggccca ccaaaacccc
      301 tcccaaagga cggctatgac ttagtgcagg aactctgtcc aggactcttc tttgacaatg
      361 tcagtctctg ctgtgacatt caacagcttc agacgctgaa gagtaacctg cagctgcccc
      421 tgcagttcct gtccaggtgt ccgtcatgtt tttataacct aatgaccctg ttttgtgagc
      481 taacatgtag cccacaccag agtcagtttc tgaatgtgac agcaactgag gattattttg
      541 atcctaagac acaggagaat aaaacaaatg taaaggaatt agagtacttt gtcggacaga
      601 gcttcgcgaa tgcgatgtac aatgcctgcc gtgatgtgga ggcgccttcc agtaacgaga
      661 aggccttagg actcttgtgt gggagggatg cccgtgcctg caatgccacc aactggattg
      721 agtacatgtt caataaagac aacggacaag cgccatttac catcattcct gtgttttcag
      781 atctttcaat ccttgggatg gagcccatga gaaatgccac caaaggctgc aatgagtctg
      841 tagatgaggt cacggggcca tgtagctgcc aggactgctc catcgtctgc ggccccaagc
      901 cccagccccc accccctcct atgccctgga ggatctgggg cttggatgcc atgtatgtca
      961 tcatgtgggt cacctacgtg gcatttctgt ttgtgttttt tggagcactg ttggcagtgt
     1021 ggtgccacag aaggcggtac tttgtgtctg agtacactcc cattgacagt aacatcgcct
     1081 tttctgtgaa tagcagtgac aaaggggaag cctcatgctg tgacccactt ggtgcagcat
     1141 ttgatgactg tctgaggcgc atgttcacaa agtggggggc tttctgtgtc cgaaatccca
     1201 cctgcatcat tttcttctca ttggccttca tcactgtgtg ctcttctggc ctggtatttg
     1261 tccaggtcac caccaatcct gtagagctct ggtcagcccc tcacagtcag gcccgcttgg
     1321 aaaaggagta ctttgacaag cactttgggc ctttctttcg cacggagcag cttatcatcc
     1381 aggcccccaa caccagtgtt catatctacg aaccgtaccc cgcaggagcc gatgtgccct
     1441 tcgggcctcc attgaacaaa gagattctgc accaggttct ggacttacag atcgccattg
     1501 aaagcatcac cgcatcttac aacaatgaaa ccgtgacact gcaggacatc tgtgtggccc
     1561 ccctctctcc atacaacaag aactgcacca ttatgagtgt gttaaattac ttccagaaca
     1621 gccatgcggt gctggacagc caagtaggcg acgacttcta tatctacgct gattaccaca
     1681 cacactttct gtactgtgta cgggctcccg cctccttgaa tgatacgagt ttgctccacg
     1741 gtccttgcct gggtacattt ggaggaccgg tgttcccgtg gcttgtgttg ggtggctatg
     1801 atgatcagaa ctacaacaat gccaccgcgc ttgtgatcac cttccccgtg aataattact
     1861 acaatgacac agagaggctc cagagggcct gggcctggga gaaagagttt attagttttg
     1921 tgaaaaacta caagaatcca aatctgacca tttctttcac tgctgagcga agcatcgaag
     1981 atgagctcaa tcgggaaagt aacagtgacg tgttcaccgt catcatcagc tacgtcgtga
     2041 tgtttctgta catttccctc gccctgggtc acatccagag ctgcagcagg ctcctggtgg
     2101 attctaagat ctcgctgggc attgcgggga tcctgatcgt gctaagctcg gtggcctgct
     2161 ctctgggcat cttcagctac atggggatgc cgctgaccct catcgtcatt gaggtcatcc
     2221 cattcctggt gctggctgtc ggggtggaca acatcttcat tctagtgcag acctaccaga
     2281 gagatgagcg tcttcaggag gaaacgctgg atcagcagct gggcaggatc cttggagaag
     2341 tggccccgac catgttcctt tcatcctttt ctgagacctc agcatttttc tttggggcgc
     2401 tgtcctcgat gccagctgtg cacaccttct ctctgtttgc gggaatggcc gtcctcattg
     2461 acttcctcct tcagattacc tgctttgtga gcctgttggg gttagatatt aagaggcaag
     2521 agaaaaacca tctggacatc ctgtgctgtg tcagaggcgc tgacgacgga caaggtagcc
     2581 acgcctccga aagctacctg tttcgcttct tcaaaaacta ctttgccccc cttctgctga
     2641 aggactggct gaggccaatt gtggtagcgg tgtttgtggg cgttctgtca ttcagtgttg
     2701 cggtggtgaa caaagtagac atcgggttgg atcagtctct ctcaatgcca aacgattcgt
     2761 atgtgattga ctatttcaaa tcactcgctc agtacctgca ctcgggccca cccgtgtact
     2821 ttgtcctgga ggaaggctat aactacagtt cacgcaaagg gcagaacatg gtgtgcggcg
     2881 gcatgggctg tgacaatgac tccctggtgc agcagatatt taacgcagct gagctggaca
     2941 cctacacccg agtaggcttc gccccctcgt cctggatcga tgactacttt gactgggtct
     3001 cgccacagtc gtcctgctgc agactctaca acgtcactca ccagttctgc aatgcttctg
     3061 tgatggaccc aacctgtgtc cgctgcagac ctctgactcc agagggtaaa cagaggcctc
     3121 aggggaaaga attcatgaaa ttcctgccca tgttcctttc tgataacccc aaccccaagt
     3181 gcggcaaagg gggacatgct gcttacggtt cagctgttaa cattgtggga gatgacactt
     3241 acattggggc cacttacttc atgacctacc acaccatact taagacctcc gctgactata
     3301 ctgatgccat gaagaaagct cggctaatag ccagtaacat cacggaaacc atgcgttcta
     3361 aggggagtga ctaccgcgta ttcccttaca gtgtgttcta cgtcttctat gaacagtacc
     3421 tgaccattat tgatgacacc atctttaacc tcagtgtgtc tctgggctcc atatttctgg
     3481 tgaccttggt ggttctgggc tgtgagctgt ggtctgcggt catcatgtgt atcaccatag
     3541 ccatgatcct ggtcaacatg ttcggtgtca tgtggctgtg gggcatcagt ctgaatgcgg
     3601 tctccttggt caacttggtg atgagctgcg gcatttctgt ggagttctgc agccatataa
     3661 cgagagcatt caccatgagt accaaaggaa gccgagtgag ccgggcggaa gaggcactgg
     3721 cccacatggg tagttctgta ttcagtggaa tcacacttac gaaatttgga gggatcgtgg
     3781 tgttagcctt tgccaaatct caaatttttg agatatttta cttcaggatg tacttagcca
     3841 tggtcttact cggagccact catggactaa tatttcttcc cgtcttactc agttacatag
     3901 ggccgtcggt gaataaagct aaaagacaca ccacttacga gcgctacaga gggacagaga
     3961 gagaacggct cctcaatttt tagccttgta gcaggctttg gtgactgtgt ttatggatag
     4021 gtcaagttta ctgcaagaca gctgcgctgt caagactgag ctggcttcag gctgtgtccg
     4081 agctgtgtca catgcagctc tacccacgct tttaaactca ggaatgcaca cctaacttgt
     4141 gaagcagtat taatggatct gaaagcaaca atcgccagcc cctactgtcg taccagtaga
     4201 aacctcatct tgggtacaag gaaggatagt tctgtcactt taacttgttt caatgcctac
     4261 ttttaatgga ggttattaaa cactttaacc tcccttctag cccaccacca accagagata
     4321 gtgggaaaga aaggatacag gggaagtgga cctgtttaga aatggttctt tggagcagat
     4381 cctgtctgca ttatcaggaa accagcaatt cagttcacgg gtcagcagtg gcagctcgac
     4441 ccactcgcaa acacttcacg gatacaccag cagtgttggg ataggagcag ccaggcctca
     4501 gcaggaggga ccagggccga caggaacacc agaggttctt ggctgttcct ctatcagcga
     4561 agactggaga ccaacaaaca ttacacagct agctctatat tctctctgtg gagtcccaac
     4621 acatggagct caactacaca atataaggca gaccaaccaa tacatgcctg tcattcacgt
     4681 gtcctttcat gtgcttgctt tagggaaaca gtccttcaca agtctgcctt tcacctgtgt
     4741 ctgcttcagc aaaatgttct ttcacatttg ccccagcaaa accccatcta acacaactga
     4801 ctttccaaag aacccttaag tttccatttc ccagtggcaa taactgtgac ctgatcccta
     4861 ccccacatgc tgtctccttt tctttgggag ttagcaacat ttgaggatgt tgtaggtact
     4921 ttattacatt tttttgtagt ttaaagagct ttattaatgc aataaattaa ctttgtacat
     4981 ttttatatta aaaaaaaaaa aagactatta agggacttca gaatgttgta ggcctcatta
     5041 gagcttgttc tccaaaaacc tgcttgaaaa aggcaacgtg ttcttcacag tgctctcctg
     5101 taaggacaac gcggctcagt cagcagctgg ttatggcccg ggaagacagg atgcagacaa
     5161 cgctcatggg ttttaactta tttttcttta ataaaatacc tcctcctcc
//
