LOCUS       NM_026674               5150 bp    mRNA    linear   ROD 08-FEB-2025
DEFINITION  Mus musculus aph1 homolog C, gamma secretase subunit (Aph1c),
            transcript variant 1, mRNA.
ACCESSION   NM_026674
VERSION     NM_026674.4
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 5150)
  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 5150)
  AUTHORS   Ma,T., Tian,X., Zhang,B., Li,M., Wang,Y., Yang,C., Wu,J., Wei,X.,
            Qu,Q., Yu,Y., Long,S., Feng,J.W., Li,C., Zhang,C., Xie,C., Wu,Y.,
            Xu,Z., Chen,J., Yu,Y., Huang,X., He,Y., Yao,L., Zhang,L., Zhu,M.,
            Wang,W., Wang,Z.C., Zhang,M., Bao,Y., Jia,W., Lin,S.Y., Ye,Z.,
            Piao,H.L., Deng,X., Zhang,C.S. and Lin,S.C.
  TITLE     Low-dose metformin targets the lysosomal AMPK pathway through PEN2
  JOURNAL   Nature 603 (7899), 159-165 (2022)
   PUBMED   35197629
REFERENCE   3  (bases 1 to 5150)
  AUTHORS   Acx,H., Serneels,L., Radaelli,E., Muyldermans,S., Vincke,C.,
            Pepermans,E., Muller,U., Chavez-Gutierrez,L. and De Strooper,B.
  TITLE     Inactivation of gamma-secretases leads to accumulation of
            substrates and non-Alzheimer neurodegeneration
  JOURNAL   EMBO Mol Med 9 (8), 1088-1099 (2017)
   PUBMED   28588032
REFERENCE   4  (bases 1 to 5150)
  AUTHORS   Dickinson,M.E., Flenniken,A.M., Ji,X., Teboul,L., Wong,M.D.,
            White,J.K., Meehan,T.F., Weninger,W.J., Westerberg,H., Adissu,H.,
            Baker,C.N., Bower,L., Brown,J.M., Caddle,L.B., Chiani,F., Clary,D.,
            Cleak,J., Daly,M.J., Denegre,J.M., Doe,B., Dolan,M.E., Edie,S.M.,
            Fuchs,H., Gailus-Durner,V., Galli,A., Gambadoro,A., Gallegos,J.,
            Guo,S., Horner,N.R., Hsu,C.W., Johnson,S.J., Kalaga,S., Keith,L.C.,
            Lanoue,L., Lawson,T.N., Lek,M., Mark,M., Marschall,S., Mason,J.,
            McElwee,M.L., Newbigging,S., Nutter,L.M., Peterson,K.A.,
            Ramirez-Solis,R., Rowland,D.J., Ryder,E., Samocha,K.E.,
            Seavitt,J.R., Selloum,M., Szoke-Kovacs,Z., Tamura,M., Trainor,A.G.,
            Tudose,I., Wakana,S., Warren,J., Wendling,O., West,D.B., Wong,L.,
            Yoshiki,A., MacArthur,D.G., Tocchini-Valentini,G.P., Gao,X.,
            Flicek,P., Bradley,A., Skarnes,W.C., Justice,M.J., Parkinson,H.E.,
            Moore,M., Wells,S., Braun,R.E., Svenson,K.L., de Angelis,M.H.,
            Herault,Y., Mohun,T., Mallon,A.M., Henkelman,R.M., Brown,S.D.,
            Adams,D.J., Lloyd,K.C., McKerlie,C., Beaudet,A.L., Bucan,M. and
            Murray,S.A.
  CONSRTM   International Mouse Phenotyping Consortium; Jackson Laboratory;
            Infrastructure Nationale PHENOMIN, Institut Clinique de la Souris
            (ICS); Charles River Laboratories; MRC Harwell; Toronto Centre for
            Phenogenomics; Wellcome Trust Sanger Institute; RIKEN BioResource
            Center
  TITLE     High-throughput discovery of novel developmental phenotypes
  JOURNAL   Nature 537 (7621), 508-514 (2016)
   PUBMED   27626380
  REMARK    Erratum:[Nature. 2017 Nov 16;551(7680):398. doi:
            10.1038/nature24643.. PMID: 29144450]
REFERENCE   5  (bases 1 to 5150)
  AUTHORS   Biundo,F., Ishiwari,K., Del Prete,D. and D'Adamio,L.
  TITLE     Deletion of the gamma-secretase subunits Aph1B/C impairs memory and
            worsens the deficits of knock-in mice modeling the Alzheimer-like
            familial Danish dementia
  JOURNAL   Oncotarget 7 (11), 11923-11944 (2016)
   PUBMED   26942869
  REMARK    GeneRIF: Loss of Aph1C is associated with memory deficit.
REFERENCE   6  (bases 1 to 5150)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (bases 1 to 5150)
  AUTHORS   Serneels,L., Dejaegere,T., Craessaerts,K., Horre,K., Jorissen,E.,
            Tousseyn,T., Hebert,S., Coolen,M., Martens,G., Zwijsen,A.,
            Annaert,W., Hartmann,D. and De Strooper,B.
  TITLE     Differential contribution of the three Aph1 genes to
            gamma-secretase activity in vivo
  JOURNAL   Proc Natl Acad Sci U S A 102 (5), 1719-1724 (2005)
   PUBMED   15665098
REFERENCE   8  (bases 1 to 5150)
  AUTHORS   Ma,G., Li,T., Price,D.L. and Wong,P.C.
  TITLE     APH-1a is the principal mammalian APH-1 isoform present in
            gamma-secretase complexes during embryonic development
  JOURNAL   J Neurosci 25 (1), 192-198 (2005)
   PUBMED   15634781
REFERENCE   9  (bases 1 to 5150)
  AUTHORS   Cheng,H.T., Miner,J.H., Lin,M., Tansey,M.G., Roth,K. and Kopan,R.
  TITLE     Gamma-secretase activity is dispensable for
            mesenchyme-to-epithelium transition but required for podocyte and
            proximal tubule formation in developing mouse kidney
  JOURNAL   Development 130 (20), 5031-5042 (2003)
   PUBMED   12952904
REFERENCE   10 (bases 1 to 5150)
  AUTHORS   Lee,S.F., Shah,S., Li,H., Yu,C., Han,W. and Yu,G.
  TITLE     Mammalian APH-1 interacts with presenilin and nicastrin and is
            required for intramembrane proteolysis of amyloid-beta precursor
            protein and Notch
  JOURNAL   J Biol Chem 277 (47), 45013-45019 (2002)
   PUBMED   12297508
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC142504.2.
            
            On Aug 9, 2022 this sequence version replaced NM_026674.3.
            
            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 :: BC063254.1, AK002310.1 [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
            1-186               AC142504.2         15884-16069
            187-357             AC142504.2         17226-17396
            358-431             AC142504.2         21809-21882
            432-554             AC142504.2         22696-22818
            555-682             AC142504.2         28194-28321
            683-5150            AC142504.2         31094-35561
FEATURES             Location/Qualifiers
     source          1..5150
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 36.15 cM"
     gene            1..5150
                     /gene="Aph1c"
                     /note="aph1 homolog C, gamma secretase subunit"
                     /db_xref="GeneID:68318"
                     /db_xref="MGI:MGI:1915568"
     exon            1..186
                     /gene="Aph1c"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..850
                     /gene="Aph1c"
                     /note="isoform 1 is encoded by transcript variant 1;
                     putative gamma-secretase subunit APH-1C; anterior pharynx
                     defective 1b; anterior pharynx defective 1c homolog"
                     /codon_start=1
                     /product="putative gamma-secretase subunit APH-1C isoform
                     1"
                     /protein_id="NP_080950.1"
                     /db_xref="CCDS:CCDS23308.1"
                     /db_xref="GeneID:68318"
                     /db_xref="MGI:MGI:1915568"
                     /translation="MTLPVFFGCAFIAFGPAFALYLFTIATDPLRVIFLIAGAFFWLV
                     SLLLSSMFWFLVRVITNNRDESVQNYLLIFGALLSVCIQELFRLAYYKLLKKASEGLK
                     SINPEEDIAPSMRLLAYVSGLGFGIMSGVFSFVNTLSNSLGPGTVGIHGDSPQFFLNS
                     AFMTLVVIMLHVFWGVVFFDGCEKNKWYTLLTVLLTHLVVSTQTFLSPYYEVNLVTAY
                     IIMVLMGIWAFYVAGGSCRSLKFCLLCQDKDFLLYNQRSR"
     exon            187..357
                     /gene="Aph1c"
                     /inference="alignment:Splign:2.1.0"
     exon            358..431
                     /gene="Aph1c"
                     /inference="alignment:Splign:2.1.0"
     exon            432..554
                     /gene="Aph1c"
                     /inference="alignment:Splign:2.1.0"
     exon            555..682
                     /gene="Aph1c"
                     /inference="alignment:Splign:2.1.0"
     exon            683..5150
                     /gene="Aph1c"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1203..1208
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aph1c"
                     /note="hexamer: AGTAAA"
     polyA_site      1224
                     /gene="Aph1c"
                     /note="major polyA site"
     regulatory      5048..5053
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aph1c"
                     /note="hexamer: AATAAA"
     polyA_site      5076
                     /gene="Aph1c"
     regulatory      5132..5137
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Aph1c"
                     /note="hexamer: ATTAAA"
     polyA_site      5150
                     /gene="Aph1c"
ORIGIN      
        1 gcattccgct aagaaatcgt cccagtcacc tcggatccac tcaggtcccc cgggactggc
       61 ttctgtgggt accatgacgc tgcctgtgtt cttcggttgc gccttcatcg ccttcgggcc
      121 cgcgttcgca ctctacctct tcaccatcgc caccgaccct ttgcgcgtca ttttcctcat
      181 cgctggtgct ttcttctggt tggtgtctct cctgctttcg tccatgtttt ggttcctagt
      241 gagagtcatt actaacaaca gagatgaatc agtacagaat tatctgctca tcttcggagc
      301 gttgctctct gtctgtatcc aagagctgtt caggctcgca tattataagc tgttaaaaaa
      361 agccagtgag ggtttgaaaa gcataaaccc ggaggaggac atagcaccct cgatgcgact
      421 gttggcgtat gtttctggct tgggctttgg aatcatgagt ggagtgtttt cctttgtgaa
      481 caccctgtct aactccttgg ggccaggcac agtgggcatt catggtgatt ctcctcagtt
      541 cttccttaat tcagctttca tgacactggt cgtcataatg ctgcacgtgt tctggggcgt
      601 tgtgttcttt gatggctgtg agaagaataa gtggtacacc ctcctcacgg ttctcctgac
      661 gcatctggtg gtgtccaccc agacttttct aagtccttat tatgaagtga atctggtaac
      721 agcatatata atcatggtgc tcatgggcat ctgggcattt tatgttgctg gaggcagctg
      781 ccgaagcctg aaattctgcc tgctctgcca agacaaggat tttcttcttt acaaccaacg
      841 ctccagataa cctctgacca tcagcacctc taagcagcag cctgtgtctt tagaggaagc
      901 acaactgggc cctgttctaa aaagacccct gtctcttgga acttggaagc cacagaactg
      961 tccagcctgg aactgtcctg tgctttcatg cagcagcctc tggaagagct gcagtgtagc
     1021 ctgcagcctg gctgcacatt tgaagcatct ggggaaacaa ggactgatgc ttctgggctt
     1081 ctccagactt gattatcctg gatgtgcagg acagctgaga gtcactgggg tccaatgggg
     1141 agttcgagaa aacacccaaa agctgtttag tgttggtctt ctaagccaac ttcagctgag
     1201 caagtaaata tctgaatgtg gtaaccagcg tagcccttgt ctttttatgt actgatgtca
     1261 cagactccag ggctgttctg tctgtggatg ggtttgctag ccttcaccag catcataggc
     1321 tgtgccttta aatgcagtaa cctacactgg cattataact tagccaaggt aaggtccatg
     1381 tagaacctgt agttttctca ttattttatc aattttaagt ttttcttcct cagacactag
     1441 attatttatt tgagtataaa ttcaggctct ttaggattaa ttatatgctg acttccttgg
     1501 gagagtttaa aattatatgc tgaattcctt cgaagaaatt ggcagtgcaa tttctatgga
     1561 ttccacaagt ttattcatta taaaatacta acagcaacat agactcctca gttttaagct
     1621 gctgtgtgtg ctgtctgaaa ctggcttgtc aagggaatgc tcaccttttt tatctctgag
     1681 aagctgggca gggagatgaa tgatggacct ttggcagatc ttctctggac tttgcaagag
     1741 tgtagctaaa ccacaaagta gtgtgacatt gacacttctc atttgctact gtgacaccaa
     1801 acagtgccat caccctaatg gtacagagta aagttggaga tagaccttaa gctgccagat
     1861 ttcaagctgg catgtaactt ttcatcttca gcagtttgcc tgggttctgg ttactgtgag
     1921 acaaacagca ttccctttac aggactatgc aagggctttg ttagtcttcc agataaggcc
     1981 tctggcttcc tctgtaagag gaatgctact gcattgggag tctactgtgg agactgttcc
     2041 caatccaagt cttttgggaa cagagtgtaa agtagcaatg acctcttggt ggaagtgatg
     2101 ccttggtgat cccagcacac acgtgcactg tctatcagaa ccaggggcag cagtgagagg
     2161 gtttggcagt gacactggag gtgagcgtga cagcaccatg gtaacaagaa gaatgggtgt
     2221 gttttaaaca aagatgcagt cagtgttttg agctggctag aatcttaccc agaaactaaa
     2281 ccttaattga taaactctca ccatggttaa aatatttgag tgtctgtgta gagatgcaag
     2341 aataatgaag cttctagcaa gactacagac tgcccgagaa tccaccatag ttacctcctt
     2401 aaaggttact tcagctctaa gtcatgtcag tgcctctgct ggagtttgtt ggtttgtagc
     2461 ttcatatatg atttttcatg gactagaaag acaaaggctc agaaaccaac agtggacatc
     2521 agtgtgcagc agtagctaaa gacagaggcc agtgaaaata tccatgattt agtttctact
     2581 tggcagcttt gaatagctta gtcttgtcac tttccctccc cttagagagg agacgaagca
     2641 gctgagaggt tgtgtgcggc ctttatcctc agacaggagg ttcaggaaac tgggaggacc
     2701 tatcacagga atccatatgg tggcagttgg ctctgtttga atgaggctgc tccaggttta
     2761 tactgatcat cttcccggat gatccagctt cagggccaat acctctgagc ctgtaacaca
     2821 ggtgaggagg ggcacatttc ccaagtcagc tcagagtcgg ctacagtctc tttggccctt
     2881 tctcaataaa gttgtgagtc ttttagttgt cttttgttta gattttagtt agaatggata
     2941 tttctggtga ccagccttgg tatgtaaaag ctcctattgg gaaaaaaaaa tgtattttgc
     3001 ttttatctca ttgaaaatca gcagtcttat tgtccgaatt tgagtagaac acttggatgt
     3061 tcaacacatc ctaaggtgac cgttgtaact gtgtctttca agactttgag gctcaatgac
     3121 ttgtaggtgg tacttgttat ttaagtataa atcatagtaa atattgtaaa gtatattttt
     3181 taaaagtact ggtgtaaggg gactggagag atggctcagg ggttaagggc actgactgtc
     3241 ctgagttcaa tttccagcaa acacatggta gctcgtagcc atctataatg agctctgttg
     3301 ccctcatctg gcttgcagat acatatgcag gcagaacact acatatgtaa taaataaata
     3361 aataaataaa tatttttaaa aagtacttgt ataaaataat aaatggaatg tatagtaatt
     3421 tattagtgct tgtcatgcac aaaacattcc ttatacagtt ttaaaggatt gaaaaacatg
     3481 atagtataag acttttgttg ctaaagaact tctaattaat cacatagatt aaaacattaa
     3541 gtataggcca ttgattgtgc ttacatctat aatcccagta cttggggatg ggatggagta
     3601 ctgaagtaag aggaggcttg ttagtttaag gccagcttga gctagagact tacctcaaaa
     3661 agtctgtaaa tatgccagga ggtggtgaaa cattccttta atcccagcac ttgggaggca
     3721 gatgcaagta gatctctgtg atttcaaggc cagcctggtc tacagagtga gttctaggac
     3781 agccaggcta cacagagaaa ccctgtctca aaataaaata taataaagta aaataaacaa
     3841 atctgtaaat agagcatttt cattactgtc tctccagaat tactgttatt accagtgcaa
     3901 tctcgatacc ctggagactg cctcttggtg cagatcagtg accctctcag cctttctgta
     3961 gcccatccct gttcctttgt gttagctgct gatctgaaga acactttcta ccagggaacc
     4021 cagtggccgc actcaggcag gcaaatttca ctttcattcc tgtccaccat ttctgtctct
     4081 ccagagttgt tattaattct gtagcagcct tcctgctccc attctccttc ctctccctgg
     4141 ggactctgcc tcttgatgct gacctctgta cccctagttc tttcctgctg actctcagcc
     4201 gttcctctta gttcatctct attgctttgt atcatccact ccctggcaga atcactgggg
     4261 acccccagag cagtgagcaa caagaaccaa agaacagact acccactcaa caaagaccaa
     4321 accagatatt taccccacgt aacacctcag acactgtaac tccagtgact ggatcacagc
     4381 acagagacat aaacaagaac agtcaagaca atatacctct tttagaagtt agtaaccata
     4441 ttgtaatagg ccccaagaaa tccaatttag ctgaatcatc aggcaaggac ttcaaaacag
     4501 caattatgga tatgttcaag gatcttttaa aaatttttat ttacacccca attgctgcac
     4561 cccttcctgg tcctcatctc acacactccc tccctgtgta tccccaaacc ctggcatatc
     4621 aagtctctgc agggctaggt gcatcctctc ctgctgaggc cagtacaagg cagcccaatt
     4681 aggggaccat atttctcaga caggcaagag ctttaaggat agccccactc tagttgttgg
     4741 gtgatccaca tgaagaaaga acttcacatc tgctacatat gtgctgggag tctaggtcca
     4801 gcctgtgcat gctctttggt tggtggttca gtccccatcc ttgtcccctc tcctacccag
     4861 tcccctccct ccatctgtct cctataactg ttttatttcc ccttctaagt gaaagtcaat
     4921 cattctcaat tgggccttcc ctcctgttta gcttctttag gtctgtggag tagaatgtgg
     4981 gtatcctgta ctatatggct aatatccact tataagtgag tggatgccat gcatgtatta
     5041 catacttaat aaagttgtta ggagttacca tataaacttt ctgtgttgta tccacgttta
     5101 aatgtctgat ggtggccaaa atgttctttt aattaaaaaa ttaacaatta
//
