LOCUS       NM_021607               2864 bp    mRNA    linear   ROD 02-JUN-2024
DEFINITION  Mus musculus nicastrin (Ncstn), mRNA.
ACCESSION   NM_021607
VERSION     NM_021607.3
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 2864)
  AUTHORS   Shi,T.W., Cao,W., Zhao,Q.Z., Yu,H.X., Zhang,S.S. and Hao,Y.B.
  TITLE     Effects of NCSTN Mutation on Hair Follicle Components in Mice
  JOURNAL   Dermatology 239 (1), 60-71 (2023)
   PUBMED   35843211
  REMARK    GeneRIF: Effects of NCSTN Mutation on Hair Follicle Components in
            Mice.
REFERENCE   2  (bases 1 to 2864)
  AUTHORS   Dave,J.M., Chakraborty,R., Ntokou,A., Saito,J., Saddouk,F.Z.,
            Feng,Z., Misra,A., Tellides,G., Riemer,R.K., Urban,Z., Kinnear,C.,
            Ellis,J., Mital,S., Mecham,R., Martin,K.A. and Greif,D.M.
  TITLE     JAGGED1/NOTCH3 activation promotes aortic hypermuscularization and
            stenosis in elastin deficiency
  JOURNAL   J Clin Invest 132 (5) (2022)
   PUBMED   34990407
REFERENCE   3  (bases 1 to 2864)
  AUTHORS   Song,R., Liu,K., Wang,Y., Qin,G., Xiao,M., Liu,Y., Yang,J.,
            Zong,R., Yan,X., Zheng,Q., Zhang,H., Hou,N., Yao,J., Wang,X.,
            Wang,Y., Zhao,J. and Zhang,X.
  TITLE     A pig model carrying heterozygous point mutation of NCSTN simulates
            familial acne inversa and reveals dysregulated cholesterol
            biosynthesis via the Notch-pAMPK-HMGCR pathway
  JOURNAL   Sci Bull (Beijing) 66 (23), 2343-2346 (2021)
   PUBMED   36654118
  REMARK    GeneRIF: A pig model carrying heterozygous point mutation of NCSTN
            simulates familial acne inversa and reveals dysregulated
            cholesterol biosynthesis via the Notch-pAMPK-HMGCR pathway.
REFERENCE   4  (bases 1 to 2864)
  AUTHORS   Yang,J., Wang,L., Huang,Y., Liu,K., Lu,C., Si,N., Wang,R., Liu,Y.
            and Zhang,X.
  TITLE     Keratin 5-Cre-driven deletion of Ncstn in an acne inversa-like
            mouse model leads to a markedly increased IL-36a and Sprr2
            expression
  JOURNAL   Front Med 14 (3), 305-317 (2020)
   PUBMED   31884525
  REMARK    GeneRIF: Keratin 5-Cre-driven deletion of Ncstn in an acne
            inversa-like mouse model leads to a markedly increased IL-36a and
            Sprr2 expression.
REFERENCE   5  (bases 1 to 2864)
  AUTHORS   Choi,J.H., Han,J., Theodoropoulos,P.C., Zhong,X., Wang,J.,
            Medler,D., Ludwig,S., Zhan,X., Li,X., Tang,M., Gallagher,T., Yu,G.
            and Beutler,B.
  TITLE     Essential requirement for nicastrin in marginal zone and B-1 B cell
            development
  JOURNAL   Proc Natl Acad Sci U S A 117 (9), 4894-4901 (2020)
   PUBMED   32071239
  REMARK    GeneRIF: The missense mutation severely limits the glycosylation of
            NCSTN to its mature form and impairs the integrity of the
            gamma-secretase complex as well as its catalytic activity toward
            its substrate Notch, a critical regulator of B cell and T cell
            development. Essential requirement for nicastrin in marginal zone
            and B-1 B cell development.
REFERENCE   6  (bases 1 to 2864)
  AUTHORS   Doudney,K., Murdoch,J.N., Paternotte,C., Bentley,L., Gregory,S.,
            Copp,A.J. and Stanier,P.
  TITLE     Comparative physical and transcript maps of approximately 1 Mb
            around loop-tail, a gene for severe neural tube defects on distal
            mouse chromosome 1 and human chromosome 1q22-q23
  JOURNAL   Genomics 72 (2), 180-192 (2001)
   PUBMED   11401431
REFERENCE   7  (bases 1 to 2864)
  AUTHORS   Yu,G., Nishimura,M., Arawaka,S., Levitan,D., Zhang,L., Tandon,A.,
            Song,Y.Q., Rogaeva,E., Chen,F., Kawarai,T., Supala,A., Levesque,L.,
            Yu,H., Yang,D.S., Holmes,E., Milman,P., Liang,Y., Zhang,D.M.,
            Xu,D.H., Sato,C., Rogaev,E., Smith,M., Janus,C., Zhang,Y.,
            Aebersold,R., Farrer,L.S., Sorbi,S., Bruni,A., Fraser,P. and St
            George-Hyslop,P.
  TITLE     Nicastrin modulates presenilin-mediated notch/glp-1 signal
            transduction and betaAPP processing
  JOURNAL   Nature 407 (6800), 48-54 (2000)
   PUBMED   10993067
REFERENCE   8  (bases 1 to 2864)
  AUTHORS   Underhill,D.A., Vogan,K.J., Kibar,Z., Morrison,J., Rommens,J. and
            Gros,P.
  TITLE     Transcription mapping and expression analysis of candidate genes in
            the vicinity of the mouse Loop-tail mutation
  JOURNAL   Mamm Genome 11 (8), 633-638 (2000)
   PUBMED   10920231
REFERENCE   9  (bases 1 to 2864)
  AUTHORS   De Strooper,B., Annaert,W., Cupers,P., Saftig,P., Craessaerts,K.,
            Mumm,J.S., Schroeter,E.H., Schrijvers,V., Wolfe,M.S., Ray,W.J.,
            Goate,A. and Kopan,R.
  TITLE     A presenilin-1-dependent gamma-secretase-like protease mediates
            release of Notch intracellular domain
  JOURNAL   Nature 398 (6727), 518-522 (1999)
   PUBMED   10206645
REFERENCE   10 (bases 1 to 2864)
  AUTHORS   Underhill,D.A., Mullick,A., Groulx,N., Beatty,B.G. and Gros,P.
  TITLE     Physical delineation of a 700-kb region overlapping the Looptail
            mutation on mouse chromosome 1
  JOURNAL   Genomics 55 (2), 185-193 (1999)
   PUBMED   9933565
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CD549803.1, AK033314.1 and BF714603.1.
            
            On Mar 11, 2009 this sequence version replaced NM_021607.2.
            
            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 :: AK129102.1, AK033314.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164135 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-59                CD549803.1         1-59
            60-562              AK033314.1         2-504
            563-2845            AK033314.1         506-2788
            2846-2864           BF714603.1         1-19                c
FEATURES             Location/Qualifiers
     source          1..2864
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 79.54 cM"
     gene            1..2864
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /note="nicastrin"
                     /db_xref="GeneID:59287"
                     /db_xref="MGI:MGI:1891700"
     exon            1..149
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..2194
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /codon_start=1
                     /product="nicastrin precursor"
                     /protein_id="NP_067620.3"
                     /db_xref="CCDS:CCDS15507.1"
                     /db_xref="GeneID:59287"
                     /db_xref="MGI:MGI:1891700"
                     /translation="MATTRGGSGPDPGSRGLLLLSFSVVLAGLCGGNSVERKIYIPLN
                     KTAPCVRLLNATHQIGCQSSISGDTGVIHVVEKEEDLKWVLTDGPNPPYMVLLEGKLF
                     TRDVMEKLKGTTSRIAGLAVTLAKPNSTSSFSPSVQCPNDGFGIYSNSYGPEFAHCKK
                     TLWNELGNGLAYEDFSFPIFLLEDENETKVIKQCYQDHNLGQNGSAPSFPLCAMQLFS
                     HMHAVISTATCMRRSFIQSTFSINPEIVCDPLSDYNVWSMLKPINTSVGLEPDVRVVV
                     AATRLDSRSFFWNVAPGAESAVASFVTQLAAAEALHKAPDVTTLSRNVMFVFFQGETF
                     DYIGSSRMVYDMENGKFPVRLENIDSFVELGQVALRTSLDLWMHTDPMSQKNESVKNQ
                     VEDLLATLEKSGAGVPEVVLRRLAQSQALPPSSLQRFLRARNISGVVLADHSGSFHNR
                     YYQSIYDTAENINVTYPEWQSPEEDLNFVTDTAKALANVATVLARALYELAGGTNFSS
                     SIQADPQTVTRLLYGFLVRANNSWFQSILKHDLRSYLDDRPLQHYIAVSSPTNTTYVV
                     QYALANLTGKATNLTREQCQDPSKVPNESKDLYEYSWVQGPWNSNRTERLPQCVRSTV
                     RLARALSPAFELSQWSSTEYSTWAESRWKDIQARIFLIASKELEFITLIVGFSTLVFS
                     LIVTYCINAKADVLFVAPREPGAVSY"
     exon            150..254
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            255..378
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            379..500
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            501..646
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            647..797
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            798..907
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            908..1060
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1165
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1166..1243
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1416
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1519
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1615
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1703
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..1858
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            1859..2071
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     exon            2072..2855
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2752..2757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /note="hexamer: ATTAAA"
     polyA_site      2770
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /note="major polyA site"
     regulatory      2830..2835
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
                     /note="hexamer: ATTAAA"
     polyA_site      2849
                     /gene="Ncstn"
                     /gene_synonym="9430068N19Rik; Aph2; D1Dau13e; Kiaa0253;
                     mKIAA0253; Nct"
ORIGIN      
        1 cggaagccta gagaggccgc tacgagtctg gaagggacct gaggcttccg cccagcggag
       61 aggcaagatg gctacgacta ggggcggctc tgggcctgac ccaggaagtc ggggtcttct
      121 tcttctgtct ttttccgtgg tactggcagg attgtgtggg ggaaactcag tggagaggaa
      181 aatctacatt cccttaaata aaacagctcc ttgtgtccgc ctgctcaacg ccactcatca
      241 gattggctgc cagtcttcaa ttagtgggga tacaggggtt atccatgtag tggagaaaga
      301 agaagacctg aagtgggtgt tgaccgatgg ccccaacccc ccttacatgg ttctgctgga
      361 gggcaagctc ttcaccagag atgtaatgga gaagctgaag ggaacaacca gtagaatcgc
      421 tggtcttgcc gtgactctag ccaagcccaa ctcaacttca agcttctctc ctagtgtgca
      481 gtgcccaaat gatgggtttg gtatttactc caactcctac gggccagagt ttgctcactg
      541 caagaaaaca ctgtggaatg aactgggcaa cggcttggct tatgaagact ttagtttccc
      601 catctttctt cttgaagatg agaacgaaac caaggtcatc aagcagtgct atcaagatca
      661 caacctgggt cagaatggct ctgcaccaag cttcccattg tgtgctatgc agctcttctc
      721 acacatgcac gccgtcatca gcactgccac ctgcatgcgg cgcagcttca tccagagcac
      781 cttcagcatc aacccagaaa tcgtctgtga ccccttatcc gactacaacg tatggagcat
      841 gcttaagcct ataaatacat ctgtgggact agaacctgac gtcagggttg tggttgcggc
      901 cacacggctg gatagccggt cctttttctg gaatgtggcc ccaggggctg aaagtgctgt
      961 agcctccttt gtcactcagc tggctgcagc tgaagctttg cacaaggcac ctgatgtgac
     1021 cactctatcc cgaaatgtga tgtttgtctt cttccagggg gaaacttttg actacattgg
     1081 cagctcacgg atggtctatg atatggagaa cggcaagttt cccgtgcggc tcgagaacat
     1141 tgactccttc gtggagctgg gacaggtggc cctaagaact tcactagatc tctggatgca
     1201 cacagatccc atgtctcaga aaaatgagtc tgtgaaaaac caggtggagg atcttctggc
     1261 cactctggag aagagcggtg ctggtgtccc tgaagttgtc ctgaggagac tggcccagtc
     1321 ccaggccctt ccaccttcgt ctctacaacg atttcttcgg gctcgaaaca tctctggcgt
     1381 ggtcctggct gaccactctg gctccttcca caatcggtat taccagagca tttatgacac
     1441 ggctgagaac attaatgtga cctatcctga gtggcagagc ccagaagagg acctcaactt
     1501 tgtgacagac actgccaagg cactggcgaa tgtggccaca gtgctggcgc gtgcactgta
     1561 tgagcttgca ggaggaacca acttcagcag ctccatccag gctgatcccc agacagttac
     1621 acgtctgctc tatgggttcc tggttagagc taacaactca tggtttcagt cgatcttgaa
     1681 acatgaccta aggtcctatt tggatgacag gcctcttcaa cactacatcg ccgtctccag
     1741 ccctaccaac acgacttacg ttgtgcagta cgccttggca aacctgactg gcaaggcgac
     1801 caacctcacc cgagagcagt gccaggatcc aagtaaagtc ccaaatgaga gcaaggattt
     1861 atatgaatac tcgtgggtac aaggcccttg gaattccaac aggacagaga ggctcccaca
     1921 gtgtgtgcgc tccacagtgc gactggccag ggccttgtcc cctgcctttg aactgagtca
     1981 gtggagctcc acagaatact ctacgtgggc ggagagccgc tggaaagaca tccaagctcg
     2041 gatattccta attgccagca aagagcttga gttcatcacg ctgatcgtgg gcttcagcac
     2101 ccttgtcttc tccctcatcg tcacctactg catcaatgcc aaagccgacg tccttttcgt
     2161 tgctccccga gagccaggag ctgtgtctta ctgaagagga ctctagctct ccctgcctgc
     2221 tctgaacttt acttcccaga ccaggtgtcc ggctgggaac aaaccactaa tttgtcactg
     2281 gactgtctct gggcctgctt agacggggat tgacacacag aatggaactg tgagtggaga
     2341 gatgaataag ttgccccccc agcccccctt cccatttgtt tctccttctc taatcccagg
     2401 gactatggta gagacttgct gctcctaact ccccagttac ccaccctcct ctgccctttc
     2461 tcgggatacc ttctgtcctt ccatcctgcc ctgtactgcc ctctgactcc actgtcaccc
     2521 gacacccctc ccccatattc agccacctgc tgcaccagga agagggtgtg aaagattgtg
     2581 catctgcatt caactaccct gaacccttag ggaagaaatg gattccctgg ctgagccagt
     2641 gtctctttcc cactgtcctt tctccaggtg tgcagatggc atgttagtgt gggcacgctg
     2701 ttaagtgggt atcccacctc cagcccacag tgctcagttg tactttttat tattaaacta
     2761 taattatcta tttttgttgg ggttttttcc tttttttttt tttttgtaag tatataaata
     2821 gcaagtttca ttaaaattat gcaatacaat ttgtaaaaaa aaaa
//
