LOCUS       NP_075898                149 aa            linear   ROD 30-APR-2024
DEFINITION  NPC intracellular cholesterol transporter 2 precursor [Mus
            musculus].
ACCESSION   NP_075898
VERSION     NP_075898.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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  (residues 1 to 149)
  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 (residues 1 to 149)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..149
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 39.37 cM"
     Protein         1..149
                     /product="NPC intracellular cholesterol transporter 2
                     precursor"
                     /note="epididymal secretory protein E1; mE1; niemann Pick
                     type C2 protein homolog; Niemann-Pick type C2"
                     /calculated_mol_wt=14487
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=1973
     mat_peptide     20..149
                     /product="NPC intracellular cholesterol transporter 2.
                     /id=PRO_0000019856"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Z0J0.1)"
                     /calculated_mol_wt=14487
     Region          24..145
                     /region_name="Npc2_like"
                     /note="Niemann-Pick type C2 (Npc2) is a lysosomal protein
                     in which a mutation in the gene causes a rare form of
                     Niemann-Pick type C disease, an autosomal recessive lipid
                     storage disorder characterized by accumulation of
                     low-density lipoprotein-derived...; cd00916"
                     /db_xref="CDD:238458"
     Site            58
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Z0J0.1)"
     Site            69
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q9Z0J0.1)"
     Site            order(85,115,119)
                     /site_type="other"
                     /note="putative cholesterol/lipid binding site [chemical
                     binding]"
                     /db_xref="CDD:238458"
     Site            116
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:23806337; propagated from
                     UniProtKB/Swiss-Prot (Q9Z0J0.1)"
     CDS             1..149
                     /gene="Npc2"
                     /gene_synonym="2700012J19Rik; HE1"
                     /coded_by="NM_023409.4:246..695"
                     /db_xref="CCDS:CCDS26050.1"
                     /db_xref="GeneID:67963"
                     /db_xref="MGI:MGI:1915213"
ORIGIN      
        1 mrflaatill lalvaasqae plhfkdcgsk vgvikevnvs pcptdpcqlh kgqsysvnit
       61 ftsgtqsqns talvhgileg irvpfpipep dgcksgincp iqkdkvysyl nklpvkneyp
      121 siklvvewkl eddkknnlfc weipvqits
//
