Version 5.4
Homo sapiens Protein: APH1B
Summary
InnateDB Protein IDBP-15758.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APH1B
Protein Name anterior pharynx defective 1 homolog B (C. elegans)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000369700
InnateDB Gene IDBG-15754 (APH1B)
Protein Structure
UniProt Annotation
Function Probable 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. Probably present in a minority of gamma-secretase complexes compared to APH1A. {ECO:0000269PubMed:12297508}.
Subcellular Localization Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Disease Associations
Tissue Specificity Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain. {ECO:0000269PubMed:12740439}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR009294 Gamma-secretase subunit Aph-1
IPR016196 Major facilitator superfamily domain, general substrate transporter
PFAM PF06105
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WW43
PhosphoSite PhosphoSite-Q8WW43
TrEMBL
UniProt Splice Variant
Entrez Gene 83464
UniGene Hs.668607
RefSeq NP_001139118
HUGO HGNC:24080
OMIM 607630
CCDS CCDS45276
HPRD 06361
IMGT
EMBL AB189172 AC016207 AF508794 AK291204 AL136671 AY358698 BC020905 CH471082
GenPept AAH20905 AAN63817 AAQ89061 BAD95573 BAF83893 CAB66606 EAW77645

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