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

2014-11-01  

Identity

HGNC
APH1A
LOCATION
1q21.2
LOCUSID
51107
ALIAS
6530402N02Rik,APH-1,APH-1A,CGI-78
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
350089322022Specific Mutations in Aph1 Cause γ-Secretase Activation.6
350089322022Specific Mutations in Aph1 Cause γ-Secretase Activation.6
287534242017Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.0
287534242017Alzheimer's-Causing Mutations Shift Aβ Length by Destabilizing γ-Secretase-Aβn Interactions.0
270599532016Presenilin 1 and Presenilin 2 Target γ-Secretase Complexes to Distinct Cellular Compartments.28
276085972016Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase.8
270599532016Presenilin 1 and Presenilin 2 Target γ-Secretase Complexes to Distinct Cellular Compartments.28
276085972016Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase.8
259184212015Structural basis of human γ-secretase assembly.43
267383542015The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease.1
259184212015Structural basis of human γ-secretase assembly.43
267383542015The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease.1
232531552013Substrate determinants in the C99 juxtamembrane domains differentially affect γ-secretase cleavage specificity and modulator pharmacology.15
232910952013γ-secretase modulators and presenilin 1 mutants act differently on presenilin/γ-secretase function to cleave Aβ42 and Aβ43.65
232531552013Substrate 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/gene-fusions/favicon/js/web-card-_common.js