Version 5.4
Mus musculus Protein: Aph1a
Summary
InnateDB Protein IDBP-174038.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aph1a
Protein Name anterior pharynx defective 1a homolog (C. elegans)
Synonyms
Species Mus musculus
Ensembl Protein ENSMUSP00000058846
InnateDB Gene IDBG-174034 (Aph1a)
Protein Structure
UniProt Annotation
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 (By similarity). {ECO:0000250}.
Subcellular Localization Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus, cis-Golgi network membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000250}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 15 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004175 endopeptidase activity
GO:0005515 protein binding
GO:0008233 peptidase activity
Biological Process
GO:0001656 metanephros development
GO:0006509 membrane protein ectodomain proteolysis
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0016485 protein processing
GO:0031293 membrane protein intracellular domain proteolysis
GO:0042987 amyloid precursor protein catabolic process
GO:0043085 positive regulation of catalytic activity
Cellular Component
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID MGI:2385110
InterPro IPR009294 Gamma-secretase subunit Aph-1
PFAM PF06105
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8BVF7
PhosphoSite PhosphoSite-Q8BVF7
TrEMBL
UniProt Splice Variant
Entrez Gene 226548
UniGene Mm.485805
RefSeq NP_666246
MGI ID
MGI Symbol Aph1a
OMIM
CCDS CCDS50999
HPRD
IMGT
EMBL AK078343 BC012406 BC024111
GenPept AAH12406 AAH24111 BAC37228

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca