Identity
HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
6530402N02Rik,APH-1,APH-1A,CGI-78
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51107
MIM: 607629
HGNC: 29509
Ensembl: ENSG00000117362
Variants:
dbSNP: 51107
ClinVar: 51107
TCGA: ENSG00000117362
COSMIC: APH1A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000117362 | ENST00000236017 | Q5TB21 |
| ENSG00000117362 | ENST00000360244 | Q96BI3 |
| ENSG00000117362 | ENST00000369109 | Q96BI3 |
| ENSG00000117362 | ENST00000414276 | Q96BI3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35008932 | 2022 | Specific Mutations in Aph1 Cause γ-Secretase Activation. | 6 |
| 35008932 | 2022 | Specific Mutations in Aph1 Cause γ-Secretase Activation. | 6 |
| 28753424 | 2017 | Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions. | 0 |
| 28753424 | 2017 | Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions. | 0 |
| 27059953 | 2016 | Presenilin 1 and Presenilin 2 Target γ-Secretase Complexes to Distinct Cellular Compartments. | 28 |
| 27608597 | 2016 | Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase. | 8 |
| 27059953 | 2016 | Presenilin 1 and Presenilin 2 Target γ-Secretase Complexes to Distinct Cellular Compartments. | 28 |
| 27608597 | 2016 | Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase. | 8 |
| 25918421 | 2015 | Structural basis of human γ-secretase assembly. | 43 |
| 26738354 | 2015 | The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease. | 1 |
| 25918421 | 2015 | Structural basis of human γ-secretase assembly. | 43 |
| 26738354 | 2015 | The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease. | 1 |
| 23253155 | 2013 | Substrate determinants in the C99 juxtamembrane domains differentially affect γ-secretase cleavage specificity and modulator pharmacology. | 15 |
| 23291095 | 2013 | γ-secretase modulators and presenilin 1 mutants act differently on presenilin/γ-secretase function to cleave Aβ42 and Aβ43. | 65 |
| 23253155 | 2013 | Substrate determinants in the C99 juxtamembrane domains differentially affect γ-secretase cleavage specificity and modulator pharmacology. | 15 |
Citation
Dessen P
APH1A (aph-1 homolog A, gamma-secretase subunit)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60421/aph1a-(aph-1-homolog-a-gamma-secretase-subunit)
