Names & Taxonomy

Uniprot ID:
Q96BI3
Entry Name:
APH1A_HUMAN
Status:
reviewed
Protein Names:
Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin-stabilization factor)
Gene Names:
APH1A PSF CGI-78 UNQ579/PRO1141
Gene Names Orf:
CGI-78 UNQ579/PRO1141
Gene Names Primary:
APH1A
Organism:
Homo sapiens (Human)

Structure

Length:
265
Sequence:
MGAAVFFGCTFVAFGPAFALFLITVAGDPLRVIILVAGAFFWLVSLLLASVVWFILVHVTDRSDARLQYGLLIFGAAVSVLLQEVFRFAYYKLLKKADEGLASLSEDGRSPISIRQMAYVSGLSFGIISGVFSVINILADALGPGVVGIHGDSPYYFLTSAFLTAAIILLHTFWGVVFFDACERRRYWALGLVVGSHLLTSGLTFLNPWYEASLLPIYAVTVSMGLWAFITAGGSLRSIQRSLLCRRQEDSRVMVYSALRIPPED
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus, Golgi stack membrane; Multi-pass membrane protein. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi.

Function

Function:
Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex.
Gene Ontology Go:
endoplasmic reticulum
endoplasmic reticulum membrane
Golgi apparatus
Golgi cisterna membrane
integral component of plasma membrane
membrane
plasma membrane
endopeptidase activity
amyloid precursor protein catabolic process
apoptotic signaling pathway
axon guidance
ephrin receptor signaling pathway
membrane protein ectodomain proteolysis
membrane protein intracellular domain proteolysis
metanephros development
neurotrophin TRK receptor signaling pathway
Notch receptor processing
Notch signaling pathway
positive regulation of apoptotic process
positive regulation of catalytic activity
protein processing
Gene Ontology Biological Process:
amyloid precursor protein catabolic process
apoptotic signaling pathway
axon guidance
ephrin receptor signaling pathway
membrane protein ectodomain proteolysis
membrane protein intracellular domain proteolysis
metanephros development
neurotrophin TRK receptor signaling pathway
Notch receptor processing
Notch signaling pathway
positive regulation of apoptotic process
positive regulation of catalytic activity
protein processing
Gene Ontology Molecular Function:
endopeptidase activity
Gene Ontology Cellular Component:
endoplasmic reticulum
endoplasmic reticulum membrane
Golgi apparatus
Golgi cisterna membrane
integral component of plasma membrane
membrane
plasma membrane
Keywords:
3D-structure
Alternative splicing
Complete proteome
Endoplasmic reticulum
Golgi apparatus
Membrane
Notch signaling pathway
Reference proteome
Transmembrane
Transmembrane helix
Interacts With:
Q92542

Publication

PubMed ID:
12297508 10810093 12975309 14702039 16710414 15489334 12110170 12522139 12471034 12763021 12740439 12679784 14593096