Biology:APH-1
| anterior pharynx defective 1 homolog A (C. elegans) | |
|---|---|
| Identifiers | |
| Symbol | APH1A |
| NCBI gene | 51107 |
| HGNC | 29509 |
| OMIM | 607629 |
| RefSeq | NM_016022 |
| UniProt | Q96BI3 |
| Other data | |
| Locus | Chr. 1 p36.13-q31.3 |
| anterior pharynx defective 1 homolog B (C. elegans) | |
|---|---|
| Identifiers | |
| Symbol | APH1B |
| NCBI gene | 83464 |
| HGNC | 24080 |
| OMIM | 607630 |
| RefSeq | NM_031301 |
| UniProt | Q8WW43 |
| Other data | |
| Locus | Chr. 15 q22.2 |
APH-1 (anterior pharynx-defective 1) is a protein gene product originally identified in the Notch signaling pathway in Caenorhabditis elegans as a regulator of the cell-surface localization of nicastrin.[1] APH-1 homologs in other organisms, including humans, have since been identified as components of the gamma secretase complex along with the catalytic subunit presenilin and the regulatory subunits nicastrin and PEN-2. The gamma-secretase complex is a multimeric protease responsible for the intramembrane proteolysis of transmembrane proteins such as the Notch protein and amyloid precursor protein (APP). Gamma-secretase cleavage of APP is one of two proteolytic steps required to generate the peptide known as amyloid beta, whose misfolded form is implicated in the causation of Alzheimer's disease.[2] All of the components of the gamma-secretase complex undergo extensive post-translational modification, especially proteolytic activation; APH-1 and PEN-2 are regarded as regulators of the maturation process of the catalytic component presenilin.[3] APH-1 contains a conserved alpha helix interaction motif glycine-X-X-X-glycine (GXXXG) that is essential to both assembly of the gamma secretase complex and to the maturation of the components.[4]
References
- ↑ "APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos". Proceedings of the National Academy of Sciences of the United States of America 99 (2): 775–9. January 2002. doi:10.1073/pnas.022523499. PMID 11792846. Bibcode: 2002PNAS...99..775G.
- ↑ "Assembly, trafficking and function of gamma-secretase". Neuro-Degenerative Diseases 3 (4–5): 275–83. 2006. doi:10.1159/000095267. PMID 17047368. https://epub.ub.uni-muenchen.de/16592/1/10_1159_000095267.pdf.
- ↑ "PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1". The Journal of Biological Chemistry 278 (10): 7850–4. March 2003. doi:10.1074/jbc.C200648200. PMID 12522139.
- ↑ "A conserved GXXXG motif in APH-1 is critical for assembly and activity of the gamma-secretase complex". The Journal of Biological Chemistry 279 (6): 4144–52. February 2004. doi:10.1074/jbc.M309745200. PMID 14627705.
External links
- APH-1+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
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