APH1C_MOUSE
ID APH1C_MOUSE Reviewed; 258 AA.
AC Q9DCZ9; Q3U2R3;
DT 26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Putative gamma-secretase subunit APH-1C;
GN Name=Aph1c;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J, and NOD; TISSUE=Kidney;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=C57BL/6J; TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Potential subunit of the gamma-secretase complex, an
CC endoprotease complex that catalyzes the intramembrane cleavage of
CC integral proteins such as Notch receptors and APP (amyloid-beta
CC precursor protein). {ECO:0000250}.
CC -!- SUBUNIT: Potential component of the gamma-secretase complex.
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the APH-1 family. {ECO:0000305}.
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DR EMBL; AK002310; BAB22004.1; -; mRNA.
DR EMBL; AK155147; BAE33077.1; -; mRNA.
DR EMBL; BC050923; AAH50923.1; -; mRNA.
DR EMBL; BC063254; AAH63254.1; -; mRNA.
DR CCDS; CCDS23308.1; -.
DR RefSeq; NP_080950.1; NM_026674.3.
DR AlphaFoldDB; Q9DCZ9; -.
DR SMR; Q9DCZ9; -.
DR STRING; 10090.ENSMUSP00000130359; -.
DR TCDB; 4.G.1.1.1; the Gama-secretase (Gama-secretase) family.
DR iPTMnet; Q9DCZ9; -.
DR PhosphoSitePlus; Q9DCZ9; -.
DR PaxDb; Q9DCZ9; -.
DR PRIDE; Q9DCZ9; -.
DR ProteomicsDB; 281799; -.
DR DNASU; 68318; -.
DR Ensembl; ENSMUST00000169282; ENSMUSP00000130359; ENSMUSG00000053040.
DR GeneID; 68318; -.
DR KEGG; mmu:68318; -.
DR UCSC; uc009qfi.1; mouse.
DR CTD; 68318; -.
DR MGI; MGI:1915568; Aph1c.
DR VEuPathDB; HostDB:ENSMUSG00000053040; -.
DR eggNOG; KOG3972; Eukaryota.
DR GeneTree; ENSGT00390000002049; -.
DR HOGENOM; CLU_086389_0_0_1; -.
DR InParanoid; Q9DCZ9; -.
DR OMA; DGCEKKR; -.
DR OrthoDB; 1085102at2759; -.
DR PhylomeDB; Q9DCZ9; -.
DR TreeFam; TF314362; -.
DR BioGRID-ORCS; 68318; 3 hits in 71 CRISPR screens.
DR ChiTaRS; Aph1c; mouse.
DR PRO; PR:Q9DCZ9; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; Q9DCZ9; protein.
DR Bgee; ENSMUSG00000053040; Expressed in proximal tubule and 58 other tissues.
DR ExpressionAtlas; Q9DCZ9; baseline and differential.
DR Genevisible; Q9DCZ9; MM.
DR GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR GO; GO:0070765; C:gamma-secretase complex; IDA:MGI.
DR GO; GO:0016021; C:integral component of membrane; ISA:MGI.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0030133; C:transport vesicle; ISO:MGI.
DR GO; GO:0061133; F:endopeptidase activator activity; ISO:MGI.
DR GO; GO:0030674; F:protein-macromolecule adaptor activity; ISO:MGI.
DR GO; GO:0042987; P:amyloid precursor protein catabolic process; ISO:MGI.
DR GO; GO:0034205; P:amyloid-beta formation; ISO:MGI.
DR GO; GO:0007626; P:locomotory behavior; ISO:MGI.
DR GO; GO:0006509; P:membrane protein ectodomain proteolysis; IGI:MGI.
DR GO; GO:0001656; P:metanephros development; IMP:MGI.
DR GO; GO:0007220; P:Notch receptor processing; ISO:MGI.
DR GO; GO:0007219; P:Notch signaling pathway; IBA:GO_Central.
DR GO; GO:0010950; P:positive regulation of endopeptidase activity; ISO:MGI.
DR GO; GO:0060134; P:prepulse inhibition; IGI:MGI.
DR GO; GO:0016485; P:protein processing; IGI:MGI.
DR GO; GO:0007614; P:short-term memory; IGI:MGI.
DR GO; GO:0001963; P:synaptic transmission, dopaminergic; IGI:MGI.
DR GO; GO:0035249; P:synaptic transmission, glutamatergic; IGI:MGI.
DR InterPro; IPR009294; Aph-1.
DR PANTHER; PTHR12889; PTHR12889; 1.
DR Pfam; PF06105; Aph-1; 1.
PE 2: Evidence at transcript level;
KW Membrane; Notch signaling pathway; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..258
FT /note="Putative gamma-secretase subunit APH-1C"
FT /id="PRO_0000221055"
FT TRANSMEM 5..25
FT /note="Helical; Name=1"
FT /evidence="ECO:0000255"
FT TRANSMEM 32..52
FT /note="Helical; Name=2"
FT /evidence="ECO:0000255"
FT TRANSMEM 71..91
FT /note="Helical; Name=3"
FT /evidence="ECO:0000255"
FT TRANSMEM 116..136
FT /note="Helical; Name=4"
FT /evidence="ECO:0000255"
FT TRANSMEM 161..181
FT /note="Helical; Name=5"
FT /evidence="ECO:0000255"
FT TRANSMEM 187..207
FT /note="Helical; Name=6"
FT /evidence="ECO:0000255"
FT TRANSMEM 214..234
FT /note="Helical; Name=7"
FT /evidence="ECO:0000255"
SQ SEQUENCE 258 AA; 29045 MW; 2AC2C475735F8246 CRC64;
MTLPVFFGCA FIAFGPAFAL YLFTIATDPL RVIFLIAGAF FWLVSLLLSS MFWFLVRVIT
NNRDESVQNY LLIFGALLSV CIQELFRLAY YKLLKKASEG LKSINPEEDI APSMRLLAYV
SGLGFGIMSG VFSFVNTLSN SLGPGTVGIH GDSPQFFLNS AFMTLVVIML HVFWGVVFFD
GCEKNKWYTL LTVLLTHLVV STQTFLSPYY EVNLVTAYII MVLMGIWAFY VAGGSCRSLK
FCLLCQDKDF LLYNQRSR
