Property Summary

NCBI Gene PubMed Count 49
PubMed Score 73.99
PubTator Score 77.25

Knowledge Summary


No data available


  Disease Sources (2)

Disease Target Count P-value
ependymoma 2514 1.0419219843528E-8
osteosarcoma 7933 1.77085434804246E-5
medulloblastoma, large-cell 6234 3.5655810994727E-5
atypical teratoid/rhabdoid tumor 1095 5.95087989611361E-5
pediatric high grade glioma 2712 1.61918942190143E-4
pilocytic astrocytoma 3086 2.55749680474802E-4
group 4 medulloblastoma 1875 4.6889974078773E-4
ovarian cancer 8492 0.0012356681341103
COPD 116 0.00144860473592774
glioblastoma 5572 0.00173476959912851
invasive ductal carcinoma 2950 0.00463398332628907
Disease Target Count Z-score Confidence
Alzheimer's disease 644 5.501 2.8
Hidradenitis suppurativa 12 3.325 1.7


  Differential Expression (11)

Disease log2 FC p
osteosarcoma 2.382 0.000
ependymoma 1.400 0.000
glioblastoma 1.200 0.002
group 4 medulloblastoma 1.500 0.000
atypical teratoid/rhabdoid tumor 1.500 0.000
medulloblastoma, large-cell 1.200 0.000
pediatric high grade glioma 1.400 0.000
pilocytic astrocytoma 1.100 0.000
COPD -1.200 0.001
invasive ductal carcinoma 1.100 0.005
ovarian cancer 1.400 0.001


Accession Q96BI3 B4DQK0 Q5TB22 Q5TB23 Q969R6 Q9BVG0 Q9Y386 APH-1a
Symbols APH-1


PANTHER Protein Class (1)


5A63   5FN2   5FN3   5FN4   5FN5  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA EggNOG Inparanoid

 GO Function (1)

Gene RIF (28)

26738354 No statistically significant difference was detected either in APOE or APH-1a polymorphisms, not suggesting a strong susceptibility to the development of Alzheimer disease.
25918421 analysis of how the conformation of presenilin, Pen-2, Aph-1, and nicastrin affect the function and mechanism of gamma-secretase
23291095 A loss of PS/gamma-secretase function to cleave Abeta42(43) may initiate Alzheimer's disease.
23253155 We demonstrate that extending the transmembrane domain of the amyloid precursor protein-derived C99 substrate in proximity to the cytosolic face strongly influences gamma-secretase cleavage specificity.
21443683 The -980C/G polymorphism in APH-1A promoter confers risk of Alzheimer's disease
21123562 Coexpression of wild-type or S-palmitoylation-deficient APH1aL and nicastrin leads to marked stabilization of transgenic presenilin 1 in the brains of double-transgenic mice.
20674680 Endogenous Aph-1a and its proteolytic fragment have unique properties for cleavage control that may have implications for gamma-secretase regulation and intracellular distribution.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20299451 Co-overexpression of presenilin-1 or APH-1 abrogated gamma-secretase inhibition probably through prevention of the incorporation of CRB2 into the gamma-secretase complex
20145246 Aph-1 associates directly with full-length and C-terminal fragments of gamma-secretase substrates

AA Sequence


Text Mined References (50)

PMID Year Title
26738354 2015 The effects and interactions of APOE and APH-1A polymorphisms in Alzheimer disease.
25918421 2015 Structural basis of human ?-secretase assembly.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
23291095 2013 ?-secretase modulators and presenilin 1 mutants act differently on presenilin/?-secretase function to cleave A?42 and A?43.
23253155 2013 Substrate determinants in the C99 juxtamembrane domains differentially affect ?-secretase cleavage specificity and modulator pharmacology.
21443683 2011 The -980C/G polymorphism in APH-1A promoter confers risk of Alzheimer's disease.
21123562 2010 Reduced Alzheimer's disease ß-amyloid deposition in transgenic mice expressing S-palmitoylation-deficient APH1aL and nicastrin.
20674680 2010 Localization and trafficking of endogenous anterior pharynx-defective 1, a component of Alzheimer's disease related gamma-secretase.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20299451 2010 Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.