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Gamma-secretase subunit aph-1 (Anterior-pharynx-defective protein 1) (Presenilin enhancer protein 1)

 APH1_CAEEL              Reviewed;         308 AA.
O45876;
26-SEP-2003, integrated into UniProtKB/Swiss-Prot.
01-JUN-1998, sequence version 1.
12-SEP-2018, entry version 112.
RecName: Full=Gamma-secretase subunit aph-1;
AltName: Full=Anterior-pharynx-defective protein 1;
AltName: Full=Presenilin enhancer protein 1;
Name=aph-1; Synonyms=pen-1; ORFNames=VF36H2L.1;
Caenorhabditis elegans.
Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida;
Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis.
NCBI_TaxID=6239;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION, AND MUTAGENESIS OF
GLY-123.
STRAIN=Bristol N2; TISSUE=Embryo;
PubMed=11792846; DOI=10.1073/pnas.022523499;
Goutte C., Tsunozaki M., Hale V.A., Priess J.R.;
"APH-1 is a multipass membrane protein essential for the Notch
signaling pathway in Caenorhabditis elegans embryos.";
Proc. Natl. Acad. Sci. U.S.A. 99:775-779(2002).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND FUNCTION.
PubMed=12110170; DOI=10.1016/S1534-5807(02)00189-2;
Francis R., McGrath G., Zhang J., Ruddy D.A., Sym M., Apfeld J.,
Nicoll M., Maxwell M., Hai B., Ellis M.C., Parks A.L., Xu W., Li J.,
Gurney M., Myers R.L., Himes C.S., Hiebsch R., Ruble C., Nye J.S.,
Curtis D.;
"aph-1 and pen-2 are required for Notch pathway signaling, gamma-
secretase cleavage of betaAPP, and presenilin protein accumulation.";
Dev. Cell 3:85-97(2002).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
STRAIN=Bristol N2;
PubMed=9851916; DOI=10.1126/science.282.5396.2012;
The C. elegans sequencing consortium;
"Genome sequence of the nematode C. elegans: a platform for
investigating biology.";
Science 282:2012-2018(1998).
-!- FUNCTION: Essential subunit of the gamma-secretase complex, an
endoprotease complex that catalyzes the intramembrane cleavage of
integral proteins such as Notch receptors (lin-12 or glp-1). It
may represent a stabilizing cofactor for the presenilin homodimer
that promotes the formation of a stable complex. Required for the
localization of aph-2. {ECO:0000269|PubMed:11792846,
ECO:0000269|PubMed:12110170}.
-!- SUBUNIT: Component of the gamma-secretase complex, a complex
probably composed of the presenilin homodimer (sel-12, hop-1 or
spe-4), nicastrin (aph-2), aph-1 and pen-2. {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
protein {ECO:0000305}.
-!- SIMILARITY: Belongs to the APH-1 family. {ECO:0000305}.
-----------------------------------------------------------------------
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EMBL; AL021466; CAA16282.1; -; Genomic_DNA.
PIR; T26007; T26007.
RefSeq; NP_492469.1; NM_060068.5.
UniGene; Cel.16647; -.
ProteinModelPortal; O45876; -.
BioGrid; 38178; 3.
STRING; 6239.VF36H2L.1; -.
EPD; O45876; -.
PaxDb; O45876; -.
PeptideAtlas; O45876; -.
EnsemblMetazoa; VF36H2L.1; VF36H2L.1; WBGene00000147.
GeneID; 172747; -.
KEGG; cel:CELE_VF36H2L.1; -.
UCSC; VF36H2L.1; c. elegans.
CTD; 33467; -.
WormBase; VF36H2L.1; CE16526; WBGene00000147; aph-1.
eggNOG; KOG3972; Eukaryota.
eggNOG; ENOG4111FIJ; LUCA.
GeneTree; ENSGT00390000002049; -.
InParanoid; O45876; -.
KO; K06172; -.
OMA; IWFIAVK; -.
OrthoDB; EOG091G0IH0; -.
PhylomeDB; O45876; -.
Reactome; R-CEL-1251985; Nuclear signaling by ERBB4.
SignaLink; O45876; -.
PRO; PR:O45876; -.
Proteomes; UP000001940; Chromosome I.
Bgee; WBGene00000147; Expressed in 5 organ(s), highest expression level in adult organism.
GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
GO; GO:0070765; C:gamma-secretase complex; ISS:WormBase.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0004175; F:endopeptidase activity; IBA:GO_Central.
GO; GO:0045165; P:cell fate commitment; IGI:WormBase.
GO; GO:0060581; P:cell fate commitment involved in pattern specification; IMP:WormBase.
GO; GO:0009792; P:embryo development ending in birth or egg hatching; IMP:WormBase.
GO; GO:0048598; P:embryonic morphogenesis; IMP:WormBase.
GO; GO:0007220; P:Notch receptor processing; IBA:GO_Central.
GO; GO:0007219; P:Notch signaling pathway; IMP:WormBase.
GO; GO:0048599; P:oocyte development; IMP:WormBase.
GO; GO:0060465; P:pharynx development; IMP:WormBase.
GO; GO:0043085; P:positive regulation of catalytic activity; IEA:InterPro.
GO; GO:0034394; P:protein localization to cell surface; IMP:WormBase.
GO; GO:0016485; P:protein processing; IBA:GO_Central.
InterPro; IPR009294; Aph-1.
PANTHER; PTHR12889; PTHR12889; 1.
Pfam; PF06105; Aph-1; 1.
1: Evidence at protein level;
Complete proteome; Membrane; Notch signaling pathway;
Reference proteome; Transmembrane; Transmembrane helix.
CHAIN 1 308 Gamma-secretase subunit aph-1.
/FTId=PRO_0000221057.
TRANSMEM 5 25 Helical; Name=1. {ECO:0000255}.
TRANSMEM 32 52 Helical; Name=2. {ECO:0000255}.
TRANSMEM 53 73 Helical; Name=3. {ECO:0000255}.
TRANSMEM 122 142 Helical; Name=4. {ECO:0000255}.
TRANSMEM 170 190 Helical; Name=5. {ECO:0000255}.
TRANSMEM 200 220 Helical; Name=6. {ECO:0000255}.
TRANSMEM 230 250 Helical; Name=7. {ECO:0000255}.
MUTAGEN 123 123 G->D: In OR28; defects in localization of
aph-2. {ECO:0000269|PubMed:11792846}.
SEQUENCE 308 AA; 33548 MW; 6A2ACA6247022B34 CRC64;
MGYLLTIACY IASFSPSIAL FCSFIAHDPV RIILFFLGSF FWLVSLLFSS LAWLGLSTVL
PDTFLLSLTV CIIAQELSRV AYFMLLKKAQ RGLNKITRQG QISVAPGVSD LHNARHMLAL
VCGLGMGVIS ALFYTMNAFA IFSGPGTIGL PNALKTGEID TNRAGKYLPL CYTLSAILLT
LFHVTWTIMV WDSCHKIGRI PSAFVPGAAA VVSHLLVTFL SSLNSRGFHV LVFAVQFLIL
LICIAYCNVI MGGTISSFVN GIGQSITDAV TLKQVRTLIE ERKLRTQRQS VPDEPMTERA
GTSNTVNA


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