APH1A (aph-1 homolog A, gamma-secretase subunit)

2014-11-01  

Identity

HGNC
LOCATION
1q21.2
LOCUSID
ALIAS
6530402N02Rik,APH-1,APH-1A,CGI-78
FUSION GENES

Other Information

Locus ID:

NCBI: 51107
MIM: 607629
HGNC: 29509
Ensembl: ENSG00000117362

Variants:

dbSNP: 51107
ClinVar: 51107
TCGA: ENSG00000117362
COSMIC: APH1A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117362ENST00000236017Q5TB21
ENSG00000117362ENST00000360244Q96BI3
ENSG00000117362ENST00000369109Q96BI3
ENSG00000117362ENST00000414276Q96BI3

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Notch signaling pathwayKEGGko04330
Alzheimer's diseaseKEGGko05010
Notch signaling pathwayKEGGhsa04330
Alzheimer's diseaseKEGGhsa05010
Notch signalingKEGGhsa_M00682
Notch signalingKEGGM00682
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Signaling by NOTCH1 in CancerREACTOMER-HSA-2644603
Signaling by NOTCH1 PEST Domain Mutants in CancerREACTOMER-HSA-2644602
Constitutive Signaling by NOTCH1 PEST Domain MutantsREACTOMER-HSA-2644606
Signaling by NOTCH1 HD+PEST Domain Mutants in CancerREACTOMER-HSA-2894858
Constitutive Signaling by NOTCH1 HD+PEST Domain MutantsREACTOMER-HSA-2894862
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRIF signals cell death from the nucleusREACTOMER-HSA-205043
Regulated proteolysis of p75NTRREACTOMER-HSA-193692
Signaling by ERBB4REACTOMER-HSA-1236394
Nuclear signaling by ERBB4REACTOMER-HSA-1251985
Signaling by NOTCHREACTOMER-HSA-157118
Signaling by NOTCH1REACTOMER-HSA-1980143
Activated NOTCH1 Transmits Signal to the NucleusREACTOMER-HSA-2122948
Signaling by NOTCH2REACTOMER-HSA-1980145
NOTCH2 Activation and Transmission of Signal to the NucleusREACTOMER-HSA-2979096
Signaling by NOTCH3REACTOMER-HSA-1980148
Signaling by NOTCH4REACTOMER-HSA-1980150
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
EPH-Ephrin signalingREACTOMER-HSA-2682334
EPH-ephrin mediated repulsion of cellsREACTOMER-HSA-3928665

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
153220842004Association of gamma-secretase with lipid rafts in post-Golgi and endosome membranes.163
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
122975082002Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.57
152860822004Identification of distinct gamma-secretase complexes with different APH-1 variants.52
124710342003APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.47
232910952013γ-secretase modulators and presenilin 1 mutants act differently on presenilin/γ-secretase function to cleave Aβ42 and Aβ43.45
287534242017Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.37
146277052004A conserved GXXXG motif in APH-1 is critical for assembly and activity of the gamma-secretase complex.36
259184212015Structural basis of human γ-secretase assembly.33
190286952009S-palmitoylation of gamma-secretase subunits nicastrin and APH-1.30

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)