LOCUS       NM_173118               1256 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus NPC intracellular cholesterol transporter 2
            (Npc2), mRNA.
ACCESSION   NM_173118
VERSION     NM_173118.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 1256)
  AUTHORS   Danyukova,T., Ariunbat,K., Thelen,M., Brocke-Ahmadinejad,N.,
            Mole,S.E. and Storch,S.
  TITLE     Loss of CLN7 results in depletion of soluble lysosomal proteins and
            impaired mTOR reactivation
  JOURNAL   Hum Mol Genet 27 (10), 1711-1722 (2018)
   PUBMED   29514215
REFERENCE   2  (bases 1 to 1256)
  AUTHORS   Christensen,C.U., Glavind,E., Thomsen,K.L., Kim,Y.O., Heeboll,S.,
            Schuppan,D., Hamilton-Dutoit,S., Wurtz Heegaard,C. and Gronbaek,H.
  TITLE     Niemann-Pick type C2 protein supplementation in experimental
            non-alcoholic fatty liver disease
  JOURNAL   PLoS One 13 (3), e0192728 (2018)
   PUBMED   29522534
  REMARK    GeneRIF: NPC2 proved inefficient at modifying robust hepatic
            non-alcoholic steatohepatitis end-points in a HFHC NASH model.
            Nonetheless, our data suggest that hepatic ABCA1 expression and
            reverse cholesterol transport were upregulated by NPC2 treatment,
            thus presenting putative therapeutic effects in diseases associated
            with deregulated lipid metabolism.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1256)
  AUTHORS   Gong,X., Qian,H., Zhou,X., Wu,J., Wan,T., Cao,P., Huang,W.,
            Zhao,X., Wang,X., Wang,P., Shi,Y., Gao,G.F., Zhou,Q. and Yan,N.
  TITLE     Structural Insights into the Niemann-Pick C1 (NPC1)-Mediated
            Cholesterol Transfer and Ebola Infection
  JOURNAL   Cell 165 (6), 1467-1478 (2016)
   PUBMED   27238017
REFERENCE   4  (bases 1 to 1256)
  AUTHORS   Abonnenc,M., Nabeebaccus,A.A., Mayr,U., Barallobre-Barreiro,J.,
            Dong,X., Cuello,F., Sur,S., Drozdov,I., Langley,S.R., Lu,R.,
            Stathopoulou,K., Didangelos,A., Yin,X., Zimmermann,W.H., Shah,A.M.,
            Zampetaki,A. and Mayr,M.
  TITLE     Extracellular matrix secretion by cardiac fibroblasts: role of
            microRNA-29b and microRNA-30c
  JOURNAL   Circ Res 113 (10), 1138-1147 (2013)
   PUBMED   24006456
REFERENCE   5  (bases 1 to 1256)
  AUTHORS   Roszell,B.R., Tao,J.Q., Yu,K.J., Huang,S. and Bates,S.R.
  TITLE     Characterization of the Niemann-Pick C pathway in alveolar type II
            cells and lamellar bodies of the lung
  JOURNAL   Am J Physiol Lung Cell Mol Physiol 302 (9), L919-L932 (2012)
   PUBMED   22367786
  REMARK    GeneRIF: NPC1 and NPC2 are associated with the lamellar bodies of
            type II pneumocyte cells and function to regulate cholesterol
            content within this organelle.
REFERENCE   6  (bases 1 to 1256)
  AUTHORS   Kharel,Y., Takahashi,S., Yamashita,S. and Koyama,T.
  TITLE     In vivo interaction between the human dehydrodolichyl diphosphate
            synthase and the Niemann-Pick C2 protein revealed by a yeast
            two-hybrid system
  JOURNAL   Biochem Biophys Res Commun 318 (1), 198-203 (2004)
   PUBMED   15110773
REFERENCE   7  (bases 1 to 1256)
  AUTHORS   Frolov,A., Zielinski,S.E., Crowley,J.R., Dudley-Rucker,N.,
            Schaffer,J.E. and Ory,D.S.
  TITLE     NPC1 and NPC2 regulate cellular cholesterol homeostasis through
            generation of low density lipoprotein cholesterol-derived
            oxysterols
  JOURNAL   J Biol Chem 278 (28), 25517-25525 (2003)
   PUBMED   12719428
REFERENCE   8  (bases 1 to 1256)
  AUTHORS   Millat,G., Chikh,K., Naureckiene,S., Sleat,D.E., Fensom,A.H.,
            Higaki,K., Elleder,M., Lobel,P. and Vanier,M.T.
  TITLE     Niemann-Pick disease type C: spectrum of HE1 mutations and
            genotype/phenotype correlations in the NPC2 group
  JOURNAL   Am J Hum Genet 69 (5), 1013-1021 (2001)
   PUBMED   11567215
REFERENCE   9  (bases 1 to 1256)
  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 1256)
  AUTHORS   Okamura,N., Kiuchi,S., Tamba,M., Kashima,T., Hiramoto,S., Baba,T.,
            Dacheux,F., Dacheux,J.L., Sugita,Y. and Jin,Y.Z.
  TITLE     A porcine homolog of the major secretory protein of human
            epididymis, HE1, specifically binds cholesterol
  JOURNAL   Biochim Biophys Acta 1438 (3), 377-387 (1999)
   PUBMED   10366780
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000006.1.
            
            On Sep 13, 2012 this sequence version replaced NM_173118.1.
            
            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 :: FQ220524.1, FQ229422.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN12840107, SAMN12840115
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-186               JAXUCZ010000006.1  110149060-110149245 c
            187-294             JAXUCZ010000006.1  110140352-110140459 c
            295-467             JAXUCZ010000006.1  110132775-110132947 c
            468-1256            JAXUCZ010000006.1  110128325-110129113 c
FEATURES             Location/Qualifiers
     source          1..1256
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="6"
                     /map="6q31"
     gene            1..1256
                     /gene="Npc2"
                     /gene_synonym="re1"
                     /note="NPC intracellular cholesterol transporter 2"
                     /db_xref="GeneID:286898"
                     /db_xref="RGD:628756"
     exon            1..186
                     /gene="Npc2"
                     /gene_synonym="re1"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..554
                     /gene="Npc2"
                     /gene_synonym="re1"
                     /note="epididymal secretory protein E1; epididymal
                     secretory protein 1; Niemann Pick type C2; Niemann-Pick
                     disease, type C2"
                     /codon_start=1
                     /product="NPC intracellular cholesterol transporter 2
                     precursor"
                     /protein_id="NP_775141.2"
                     /db_xref="GeneID:286898"
                     /db_xref="RGD:628756"
                     /translation="MPRMSFLTPTILLLALVAATQAEPLHFKDCGSKVGVIKEVNVSP
                     CPTQPCQLHKGQSYSVNVTFTSGTQSQNSTALVHGILAGVPVYFPIPEPDGCKCGINC
                     PIQKDKVYSYLNKLPVKSEYPSLKLVVEWKLQDDKKDNLFCWEIPVEIKG"
     exon            187..294
                     /gene="Npc2"
                     /gene_synonym="re1"
                     /inference="alignment:Splign:2.1.0"
     exon            295..467
                     /gene="Npc2"
                     /gene_synonym="re1"
                     /inference="alignment:Splign:2.1.0"
     exon            468..1256
                     /gene="Npc2"
                     /gene_synonym="re1"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 acaagtggcc tgacctggct ccaccctcgg tctgccggga caagtttatc ttgtgactgt
       61 cgggctgctt tcccttccta gattgcacag cgttcatgcc caggatgagc ttcctgaccc
      121 ccacgatcct gctgctggcg ctggtcgccg ccacccaggc cgagcccctg cacttcaagg
      181 actgcggctc taaggtgggc gttataaagg aagtgaatgt gagcccgtgc cctacccagc
      241 cctgtcagct acacaaaggc cagtcctaca gtgtcaacgt cacctttact agcggcactc
      301 agtcccagaa cagcacggcc ttggtccacg gcatcttggc aggggtccca gtctacttcc
      361 ctattcctga gcctgacggt tgtaaatgtg gaatcaactg ccccatccag aaagacaagg
      421 tctacagcta cctgaataag ctgccggtga agagcgaata tccctctcta aaactggtgg
      481 tggaatggaa acttcaagat gacaaaaagg ataacctctt ctgctgggag atcccagtag
      541 agatcaaagg ctaggctgct tggtgccctg tgtctgtgca gggtgagagg ccatgggcgg
      601 agggagggga aggaagagaa atcagacctg aaattgagtc ggtgccataa gacgaacaga
      661 acttcaagaa tgctgtttta tgcctttcag cctccaaaaa catacctgca gccctactac
      721 tcttgagagc cagagccatg gccccctgag atagcctttg tggaggcttc gggagggaaa
      781 ggggagactg gagagattag attagtgtcc atggctgttt gctgttggat tacgtcggca
      841 ggtccaggca agatgaggca gggatgcttg aggatgtcag ataacctgtc aatccactgt
      901 gaaggatggc ttcccagaat cttctggctg gccgggagta ttacctcttc tgtatctaag
      961 tgcctcctga gtcccaagca ccctgcttat cgatccgatg agtctccatg gtagcctctg
     1021 cccaacgctt caacagcagt gactaactct ccatggtcca gagacggcct gagggaaggt
     1081 ctgcgcagaa acttagctct gactggctgc tgctttgcgg ttagctcttg ttctttggta
     1141 gttttcatta aagccaatac ttggttgcag gtgcttggtt ttgtttttta acagtattag
     1201 tctgtatcct ctctccgcac gtgagatgga gcctccccat aaattctaac ttgcca
//
