LOCUS       NM_023409               3278 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus NPC intracellular cholesterol transporter 2 (Npc2),
            mRNA.
ACCESSION   NM_023409
VERSION     NM_023409.4
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 3278)
  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   2  (bases 1 to 3278)
  AUTHORS   Rasmussen,C.L.M., Thomsen,L.B., Heegaard,C.W., Moos,T. and
            Burkhart,A.
  TITLE     The Npc2Gt(LST105)BygNya mouse signifies pathological changes
            comparable to human Niemann-Pick type C2 disease
  JOURNAL   Mol Cell Neurosci 126, 103880 (2023)
   PUBMED   37454976
REFERENCE   3  (bases 1 to 3278)
  AUTHORS   Neo,W.H., Meng,Y., Rodriguez-Meira,A., Fadlullah,M.Z.H.,
            Booth,C.A.G., Azzoni,E., Thongjuea,S., de Bruijn,M.F.T.R.,
            Jacobsen,S.E.W., Mead,A.J. and Lacaud,G.
  TITLE     Ezh2 is essential for the generation of functional yolk sac derived
            erythro-myeloid progenitors
  JOURNAL   Nat Commun 12 (1), 7019 (2021)
   PUBMED   34857757
  REMARK    GeneRIF: Ezh2 is essential for the generation of functional yolk
            sac derived erythro-myeloid progenitors.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3278)
  AUTHORS   Chu,T.T., Tu,X., Yang,K., Wu,J., Repa,J.J. and Yan,N.
  TITLE     Tonic prime-boost of STING signalling mediates Niemann-Pick disease
            type C
  JOURNAL   Nature 596 (7873), 570-575 (2021)
   PUBMED   34290407
REFERENCE   5  (bases 1 to 3278)
  AUTHORS   Mohammed,Y., Michaud,S.A., Petrosova,H., Yang,J., Ganguly,M.,
            Schibli,D., Flenniken,A.M., Nutter,L.M.J., Adissu,H.A.,
            Lloyd,K.C.K., McKerlie,C. and Borchers,C.H.
  TITLE     Proteotyping of knockout mouse strains reveals sex- and
            strain-specific signatures in blood plasma
  JOURNAL   NPJ Syst Biol Appl 7 (1), 25 (2021)
   PUBMED   34050187
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3278)
  AUTHORS   Friedland,N., Liou,H.L., Lobel,P. and Stock,A.M.
  TITLE     Structure of a cholesterol-binding protein deficient in
            Niemann-Pick type C2 disease
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2512-2517 (2003)
   PUBMED   12591954
REFERENCE   7  (bases 1 to 3278)
  AUTHORS   Ko,D.C., Binkley,J., Sidow,A. and Scott,M.P.
  TITLE     The integrity of a cholesterol-binding pocket in Niemann-Pick C2
            protein is necessary to control lysosome cholesterol levels
  JOURNAL   Proc Natl Acad Sci U S A 100 (5), 2518-2525 (2003)
   PUBMED   12591949
  REMARK    GeneRIF: NPC2 protein has binding sites with a role in efficient
            secretion
REFERENCE   8  (bases 1 to 3278)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   9  (bases 1 to 3278)
  AUTHORS   Naureckiene,S., Sleat,D.E., Lackland,H., Fensom,A., Vanier,M.T.,
            Wattiaux,R., Jadot,M. and Lobel,P.
  TITLE     Identification of HE1 as the second gene of Niemann-Pick C disease
  JOURNAL   Science 290 (5500), 2298-2301 (2000)
   PUBMED   11125141
REFERENCE   10 (bases 1 to 3278)
  AUTHORS   Nakamura,Y., Takayama,N., Minamitani,T., Ikuta,T., Ariga,H. and
            Matsumoto,K.
  TITLE     Primary structure, genomic organization and expression of the major
            secretory protein of murine epididymis, ME1
  JOURNAL   Gene 251 (1), 55-62 (2000)
   PUBMED   10863096
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AI391386.1, AK158624.1, AC122310.2 and BE952809.1.
            
            On Jan 31, 2006 this sequence version replaced NM_023409.3.
            
            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 :: SRR1660815.194335.1, AK154838.1
                                           [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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-215               AI391386.1         1-215
            216-1416            AK158624.1         184-1384
            1417-2787           AC122310.2         125266-126636
            2788-3278           BE952809.1         1-491               c
FEATURES             Location/Qualifiers
     source          1..3278
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 39.37 cM"
     gene            1..3278
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /note="NPC intracellular cholesterol transporter 2"
                     /db_xref="GeneID:67963"
                     /db_xref="MGI:MGI:1915213"
     exon            1..327
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /inference="alignment:Splign:2.1.0"
     CDS             246..695
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /note="epididymal secretory protein E1; mE1; niemann Pick
                     type C2 protein homolog; Niemann-Pick type C2"
                     /codon_start=1
                     /product="NPC intracellular cholesterol transporter 2
                     precursor"
                     /protein_id="NP_075898.1"
                     /db_xref="CCDS:CCDS26050.1"
                     /db_xref="GeneID:67963"
                     /db_xref="MGI:MGI:1915213"
                     /translation="MRFLAATILLLALVAASQAEPLHFKDCGSKVGVIKEVNVSPCPT
                     DPCQLHKGQSYSVNITFTSGTQSQNSTALVHGILEGIRVPFPIPEPDGCKSGINCPIQ
                     KDKVYSYLNKLPVKNEYPSIKLVVEWKLEDDKKNNLFCWEIPVQITS"
     exon            328..435
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /inference="alignment:Splign:2.1.0"
     exon            436..608
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /inference="alignment:Splign:2.1.0"
     exon            609..3262
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1308..1313
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /note="hexamer: ATTAAA"
     polyA_site      1330
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /note="major polyA site"
     regulatory      1399..1404
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /note="hexamer: CATAAA"
     polyA_site      1417
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
     regulatory      3234..3239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /note="hexamer: AATAAA"
     polyA_site      3262
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
ORIGIN      
        1 gagcggggcg aacgcaaaga gcgagttctc cgtaggccct gcctggaagc ggaagagatg
       61 ggcggagata aagggcgagc tgcaggccag gcggccccgg agcccagggc ggggcgcggg
      121 cgggccttcg ctggttactg ctcacaagtg gcctgatctg gctccaccct cggtccggga
      181 caagtttatc ttgtgactgc tcgggctgct tttccttcct agattgcaga gctttcatat
      241 ccacgatgcg ttttctggcc gccacgatcc tgctgctggc gctggtcgct gccagccagg
      301 cggagcccct gcacttcaag gactgcggct ctaaggtggg agttataaag gaggtgaatg
      361 tgagcccatg tcccaccgat ccctgtcagc tgcacaaagg ccagtcctac agtgtcaaca
      421 tcacctttac cagcggcact cagtcccaga acagcacggc cttggtccac ggcatcctgg
      481 aagggatccg ggtccccttc cctattcctg agcctgacgg ttgtaagagt ggaatcaact
      541 gccccatcca gaaagacaag gtctacagct acctgaataa gcttccggtg aagaatgaat
      601 acccctctat aaaactggtg gtggaatgga aacttgaaga tgacaaaaag aataatctct
      661 tctgctggga gatcccagtt cagatcacaa gctaggctcc ttggcgcctg tgtctgtgtg
      721 ggctgagagg ccatggacgg agtggggggg aagaaacaga aatcagaccc gaaatggaat
      781 cagtgccata tgatgaacag aatttcaaga atgctgtttt atgcctttta acctccaaag
      841 cagtaactgc aagcctacta ctcttgagag cgcgctcaga gccattgtcc cccgagatag
      901 cctctgggga ggcttcggga gggaaagggg aaactggaaa gattagattg gtgtccatgg
      961 ctgtttgctg ttggattaca ggcaggttcc accagacagg atgggacggg gttgcttagg
     1021 gatgtcagat aacttgaccc agggctatgg atccactgtg aaggatggct tcccagagtc
     1081 ttctggctgc ctgggggtgt tacctcccct gtttctaagt gcctcctgag tccccagccc
     1141 ctggcttatc agtcagatga gtctccttgg tagcctctgc cccatcgctt cagcagtagc
     1201 gactagctct cctcggtatc cagactggct gaggggcagt ctgccgcaga aatttgtctc
     1261 tgagtggctg tgtctttgtg gttagctctc gttctttggt agttttcatt aaagccaata
     1321 cttggttgca ggtgcttggt tttgtttttt aacggtattt gtctgtatcc tctctctgca
     1381 tgtaagattg agcctcccca taaattctaa cttgccactc ctgcgtgtgt gttcagtctg
     1441 tggttgccta cttcttccag atggcagcct cctaggtcca tagcaggcag ccacccagtt
     1501 ccgaagctct agagaagatg tgactcacag gactcacggg caccgcctct ttcctcgttt
     1561 ttatttatac cagctagact ttatccatag aaagtggcct tgttctgcat tgctgtcagt
     1621 gtgcctgaag cagcaaccac cacctagcac cacttgagga ggcgtggtga cggggacact
     1681 acgcgccctc atggggaagc ctagaaagga gagggaggaa gaggctgtgg ctctatggag
     1741 gcaggaggga tgtgagttcc aggccagtcc gagtggcagc atagtgagat ccatttaaat
     1801 aaagaagtag gcccaagccg acaaggggca gaagggtcgt gagttccaca ccagcctgga
     1861 cttaaccact ctgccgtccc acccttccct gactcaattt cagttctaga aggcaacaga
     1921 ggcatgaaga ctgctgcaag ttggagacca accccgtcta caaaatgagc tcaaggccag
     1981 cctgagctaa aggagaccta gtctcagatg gggagagaga acatcatagc agataacagt
     2041 tccctttact atatctcaag atgactgaca ggtatggtca tggatcatag tttttggtag
     2101 ggaatgcaca cgctgttttt gagatgaggt ctgacgtatc tcaggctggc tttgaactag
     2161 ccatgtatcg gagaaccttg actttctgag cctcctgctt ctacctcaag tgctgagatt
     2221 gccagtgtag gcccccattc ataaaatccg aatagcatag gactggaggc ttgcgggttt
     2281 ttttttacct gtgagtttcc caggcaaacc accagggggc agcaatgggt caataatgaa
     2341 gttcttaccg gtgacctgtt cacccactgt acagaggtct tttgtgtatc ctttcaccct
     2401 gagcccaccc tatcttccca tatgagtcag aatcatgtga actccaaaag tagttacctg
     2461 ctgaggtcgt tgcttccagc tgcccgtggt taaattttgg ctcctccagt tattcagctg
     2521 tgaatgtgag ctgtaagtga ttccatctct ccgtgcttca atttggattt tcctaatcca
     2581 ttgaccaggg acaatggtag cgccatgtga agtgaaatga ggcatgtaaa acacgagtca
     2641 gggcgtgcgg tatacacgct gtcggtgtga gccattgtgc taggctgctc tttttgtcta
     2701 gaaataggaa aatccggagg ctcaatctca tgtgtaatgt gtctcagaaa aacatagcta
     2761 tcgtctgtgt gggagcttgc tgaggggcca ggagaaactc acttctgtgt ttgctgactc
     2821 ccttttccca acagattctt cttgcctttt tagctctgca actaacagct ctcaaacccg
     2881 aaaaaatggg gggtgggagg aggaagctct gttagtgccc ttgtgtcctc atcagaacag
     2941 gaggtgaccc aacagcttag gactgtttgc ttacgggcca ctgggaggct cagtggagcc
     3001 tgcagttgtg agataggtag tctcccatgg gaggattagt ttgaaaggtc atccctacaa
     3061 gaaagttcac agtcattaac acagaagcct tgaatcctaa gcatacaaag ggccccgtgt
     3121 tttctactgc ctgtctctgt gcaaaccttg agtcttagac ccactcttcc cttacaggaa
     3181 tctgaggcag gtaaatctca agatccccaa tgctatggtc tgatcttcat actaataaaa
     3241 atcaaggggt ggaatcattt caaaaaaaaa aaaaaaaa
//
