Version 5.4
Homo sapiens Gene: APH1B
Summary
InnateDB Gene IDBG-15754.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APH1B
Gene Name anterior pharynx defective 1 homolog B (C. elegans)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138613
Encoded Proteins
IDBP-15756
anterior pharynx defective 1 homolog B (C. elegans)
IDBP-15758
anterior pharynx defective 1 homolog B (C. elegans)
IDBP-15760
anterior pharynx defective 1 homolog B (C. elegans)
IDBP-597744
anterior pharynx defective 1 homolog B (C. elegans)
IDBP-586403
anterior pharynx defective 1 homolog B (C. elegans)
IDBP-584823
anterior pharynx defective 1 homolog B (C. elegans)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:63276018-63309126
Strand Forward strand
Band q22.2
Transcripts
ENST00000261879 ENSP00000261879
ENST00000380343 ENSP00000369700
ENST00000380340 ENSP00000369697
ENST00000560890 ENSP00000453002
ENST00000559744
ENST00000560353 ENSP00000453327
ENST00000559971 ENSP00000453516
ENST00000558631
ENST00000559823
ENST00000560716
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 13 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008233 peptidase activity
Biological Process
GO:0007219 Notch signaling pathway
GO:0007220 Notch receptor processing
GO:0016485 protein processing
GO:0031293 membrane protein intracellular domain proteolysis
GO:0043065 positive regulation of apoptotic process
GO:0043085 positive regulation of catalytic activity
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0097190 apoptotic signaling pathway
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0030133 transport vesicle
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000032375
View Gene Order
Pathways
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.511703 Hs.597372 Hs.619031 Hs.668607
RefSeq NM_001145646 NM_031301
HUGO
OMIM
CCDS CCDS10184 CCDS45276
HPRD 06361
IMGT
EMBL
GenPept
RNA Seq Atlas

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