APH1A
entrez
51107
canonical
uniprot
Q96BI3
canonical
ensembl
ENSG00000117362
resolver
ensp
ENSP00000353380
resolver
ensp
ENSP00000358105
resolver
ensp
ENSP00000397473
resolver
genesymbol
APH1A
resolver
genesymbol_syn
PSF
resolver
hgnc
HGNC:29509
resolver
uniprot
B4DQK0
resolver
uniprot
B4DUG7
resolver
uniprot
Q5TB22
resolver
uniprot
Q5TB23
resolver
uniprot
Q969R6
resolver
uniprot
Q9BVG0
resolver
uniprot
Q9Y386
resolver
uniprot_entry
APH1A_HUMAN
resolver
uniprot_entry
B4DUG7_HUMAN
resolver
uniprot_sec
B4DQK0
resolver
uniprot_sec
Q5TB22
resolver
uniprot_sec
Q5TB23
resolver
uniprot_sec
Q969R6
resolver
uniprot_sec
Q9BVG0
resolver
uniprot_sec
Q9Y386
resolver
amino_acid_sequence
MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLASVVWFILVHVTDRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEGLASLSEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIHGDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQRSLLCRRQEDSRVMVYSALRIPPED
uniprot
proteins
function
FUNCTION: Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) (PubMed:12297508, PubMed:12522139, PubMed:12679784, PubMed:12763021, PubMed:25043039, PubMed:26280335, PubMed:30598546, PubMed:30630874). Required for normal gamma-secretase assembly (PubMed:12471034, PubMed:12522139, PubMed:12763021, PubMed:19369254). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). {ECO:0000269|PubMed:12297508, ECO:0000269|PubMed:12471034, ECO:0000269|PubMed:12522139, ECO:0000269|PubMed:12679784, ECO:0000269|PubMed:12763021, ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874, ECO:0000305}.
uniprot
proteins
mass_dalton
28996
uniprot
proteins
mutagenesis
MUTAGEN 171; /note="H->A: Impaired gamma-secretease assembly and reduced proteolytic activity of the gamma-secretase complex."; /evidence="ECO:0000269|PubMed:19369254"; MUTAGEN 197; /note="H->A: Impaired gamma-secretease assembly and reduced proteolytic activity of the gamma-secretase complex."; /evidence="ECO:0000269|PubMed:19369254
uniprot
proteins
protein_family
APH-1 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12110170
uniprot
proteins
pubmed
12297508
uniprot
proteins
pubmed
12471034
uniprot
proteins
pubmed
12522139
uniprot
proteins
pubmed
12679784
uniprot
proteins
pubmed
12740439
uniprot
proteins
pubmed
12763021
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14593096
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19369254
uniprot
proteins
pubmed
25043039
uniprot
proteins
pubmed
26280335
uniprot
proteins
pubmed
26623517
uniprot
proteins
pubmed
30598546
uniprot
proteins
pubmed
30630874
uniprot
proteins
sequence_length
265
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12522139}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12522139}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517, ECO:0000269|PubMed:30598546, ECO:0000269|PubMed:30630874}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000269|PubMed:12522139}.
uniprot
proteins
transmembrane_region
TRANSMEM 3..23; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:26280335"; TRANSMEM 32..52; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:26280335"; TRANSMEM 69..89; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:26280335"; TRANSMEM 119..139; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:26280335"; TRANSMEM 159..179; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:26280335"; TRANSMEM 187..207; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:26280335"; TRANSMEM 214..234; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:26280335
uniprot
proteins