Version 5.4
Mus musculus Gene: Aph1a
Summary
InnateDB Gene IDBG-174034.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Aph1a
Gene Name anterior pharynx defective 1a homolog (C. elegans)
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000015750
Encoded Proteins
IDBP-174036
anterior pharynx defective 1a homolog (C. elegans)
IDBP-174038
anterior pharynx defective 1a homolog (C. elegans)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a subunit of the gamma-secretase complex, which is localized to the endoplasmic reticulum and golgi apparatus. Gamma-secretase is a multi-protein enzyme that catalyzes intramembraneous proteolysis of type I transmembrane proteins and is essential for many signaling pathways, including the Notch signaling pathway. Studies suggest that the protein encoded by this locus binds directly to substrates of the gamma-secretase complex, including the beta-amyloid precursor protein which is associated with Alzheimer disease progression. This gene is required for normal embryonic development and survival, and disruption is associated with defects in the yolk sack angiogenesis, neural tube formation, and somitogenesis. A pseudogene of this gene is located on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:95893969-95898288
Strand Forward strand
Band F2.1
Transcripts
ENSMUST00000015894 ENSMUSP00000015894
ENSMUST00000056710 ENSMUSP00000058846
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
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000117362
View Gene Order
ENSBTAG00000021482
Not yet available
Pathways
NETPATH
REACTOME
REACT_198574
Nuclear signaling by ERBB4 pathway
REACT_189085
Disease pathway
REACT_188579
Signaling by ERBB4 pathway
REACT_196589
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_204413
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_243590
EPH-ephrin mediated repulsion of cells pathway
REACT_199382
Signaling by NOTCH1 pathway
REACT_199384
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_199412
Signaling by NOTCH2 pathway
REACT_199413
Signaling by NOTCH3 pathway
REACT_199410
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_199411
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_258158
EPH-Ephrin signaling pathway
REACT_199405
Signaling by NOTCH1 in Cancer pathway
REACT_199404
Signaling by NOTCH4 pathway
REACT_199407
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_199406
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_199409
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_199408
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_261444
Axon guidance pathway
REACT_248921
Signalling by NGF pathway
REACT_188576
Developmental Biology pathway
REACT_218614
Regulated proteolysis of p75NTR pathway
REACT_188257
Signal Transduction pathway
REACT_210847
p75 NTR receptor-mediated signalling pathway
REACT_202271
NRIF signals cell death from the nucleus pathway
REACT_231152
Signaling by NOTCH pathway
REACT_196591
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
KEGG
mmu04330
Notch signaling pathway pathway
mmu05010
Alzheimer's disease pathway
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
NetPath_3
Notch pathway
REACTOME
REACT_13443
Regulated proteolysis of p75NTR pathway
REACT_13643
NRIF signals cell death from the nucleus pathway
REACT_116022
Nuclear signaling by ERBB4 pathway
REACT_115596
Signaling by ERBB4 pathway
REACT_118614
Activated NOTCH1 Transmits Signal to the Nucleus pathway
REACT_118636
Signaling by NOTCH4 pathway
REACT_118862
Signaling by NOTCH3 pathway
REACT_160205
NOTCH2 Activation and Transmission of Signal to the Nucleus pathway
REACT_160243
Constitutive Signaling by NOTCH1 PEST Domain Mutants pathway
REACT_160254
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants pathway
REACT_111045
Developmental Biology pathway
REACT_11061
Signalling by NGF pathway
REACT_160082
Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant pathway
REACT_160214
Signaling by NOTCH1 in Cancer pathway
REACT_18266
Axon guidance pathway
REACT_13776
p75 NTR receptor-mediated signalling pathway
REACT_160099
FBXW7 Mutants and NOTCH1 in Cancer pathway
REACT_111102
Signal Transduction pathway
REACT_118721
Signaling by NOTCH2 pathway
REACT_160301
Signaling by NOTCH1 PEST Domain Mutants in Cancer pathway
REACT_160248
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer pathway
REACT_299
Signaling by NOTCH pathway
REACT_13720
Cell death signalling via NRAGE, NRIF and NADE pathway
REACT_228189
EPH-ephrin mediated repulsion of cells pathway
REACT_118859
Signaling by NOTCH1 pathway
REACT_160133
Signaling by NOTCH1 HD Domain Mutants in Cancer pathway
REACT_228170
EPH-Ephrin signaling pathway
REACT_116125
Disease pathway
KEGG
hsa04330
Notch signaling pathway pathway
hsa05010
Alzheimer's disease pathway
INOH
PID NCI
ps1pathway
Presenilin action in Notch and Wnt signaling
p75ntrpathway
p75(NTR)-mediated signaling
syndecan_3_pathway
Syndecan-3-mediated signaling events
notch_pathway
Notch signaling pathway
Cross-References
SwissProt Q8BVF7
TrEMBL Q6GTF1
UniProt Splice Variant
Entrez Gene 226548
UniGene Mm.306954 Mm.423592 Mm.485805
RefSeq NM_146104 NM_146134
OMIM
CCDS CCDS17624 CCDS50999
HPRD
IMGT
MGI ID MGI:2385110
MGI Symbol Aph1a
EMBL AK078343 AK148400 BC012406 BC024111 BC057865 CH466520 CH466620
GenPept AAH12406 AAH24111 AAH57865 BAC37228 BAE28531 EDL38853 EDL39312
RNA Seq Atlas 226548

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