APH1B Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | APH1B |
| Official Name | aph-1 homolog B, gamma-secretase subunit [Source:HGNC Symbol;Acc:HGNC:24080] |
| Ensembl ID | ENSG00000138613 |
| Bio databases IDs | |
| Aliases | aph-1 homolog B, gamma-secretase subunit |
| Synonyms | 2310057K14RIK, 4632417K02, Anterior pharynx defective 1c homolog, aph-1beta, aph-1 homolog B, gamma-secretase subunit, aph-1 homolog B, γ-secretase subunit, LOC145842, PRO1328, PSFL, TAAV688 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APH1B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- peptidase
- protein binding activity, bridging
- protein binding
- enzyme regulator activity
- Aph-1 protein
- protease activator
Pathways
Biological processes and signaling networks where the APH1B gene in human plays a role, providing insight into its function and relevance in health or disease.
- Amyloid Processing
- Docosahexaenoic Acid (DHA) Signaling
- Ephrin A Signaling
- ErbB4 Signaling
- Mitochondrial Dysfunction
- Molecular Mechanisms of Cancer
- Neuroinflammation Signaling Pathway
- Notch Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Th1 and Th2 Activation Pathway
- Th1 Pathway
- Th2 Pathway
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- organismal death
- refractive error
- ovarian cancer
- dementia
- myopia
- Rett syndrome
- late-onset Alzheimer disease
role in cell
- apoptosis
- proliferation
- generation in
- invasion by
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- raft fractions
- membrane fraction
- cellular membrane
- Plasma Membrane
- endosomal membrane
- transport vesicles
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APH1B gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- amyloid precursor protein catabolic process
- Notch signaling pathway
- Notch receptor processing
- membrane protein intracellular domain proteolysis
- protein processing
- positive regulation of endopeptidase activity
- beta-amyloid formation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- gamma-secretase complex
- endosome membrane
- endoplasmic reticulum
- Golgi membrane
- transport vesicle
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- endopeptidase activator activity
- protein binding
- protein binding, bridging