Property Summary

NCBI Gene PubMed Count 29
Grant Count 5
Funding $219,391.88
PubMed Score 13.73
PubTator Score 10.31

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -4.200 0.000
osteosarcoma -1.372 0.000
atypical teratoid / rhabdoid tumor 1.600 0.000
glioblastoma 1.400 0.000
medulloblastoma, large-cell -1.300 0.003
non-small cell lung cancer -1.132 0.000
diabetes mellitus -1.100 0.004
posterior fossa group B ependymoma 1.100 0.000
lung carcinoma 1.500 0.000
ovarian cancer -1.800 0.000
pituitary cancer 1.200 0.000

Synonym

Accession Q8WW43 A8K589 Q564N3 Q6UWQ1 Q9H0S0 APH-1b
Symbols PSFL
APH-1B
PRO1328
TAAV688

Gene

PANTHER Protein Class (1)

 MGI Term (1)

Gene RIF (13)

PMID Text
23665252 gamma-Secretase inhibition during repeated peripheral inflammation blocks central amyloid-beta accumulation and prevents cognitive dysfunction.
19774691 The single-nucleotide polymorphism (Phe217Leu; rs1047552) showed a tendency for association with HIV-1 infection in a Xhosa indigenous South African Bantu study (P = 0.087), and associated significantly in a Caucasian Dutch study (P = 0.049).
19774691 Observational study of gene-disease association. (HuGE Navigator)
18987747 A non-synonymous SNP in the gamma-secretase component APH1B (Phe217Leu; rs1047552)is significantly associated with premature coronary atherosclerosis in Dutch males.
18987747 Observational study of gene-disease association. (HuGE Navigator)
17466415 These data suggest that a cooperative mechanism involving APOE and APH-1b plays a role in the susceptibility to develop AD.
17466415 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16757808 These results collectively indicate that the three forms of APH-1 can replace each other in presenilin (PS) complexes and that the transmembrane GxxxG region is essential for the stability of the APH-1 protein as well as the assembly of PS complexes.
15823552 APH-1b variant protein is destabilized, and the fourth transmembrane domain plays an important role in the protein stability and function of APH-1.
15629423 knock down of APH-1a, but not APH-1b, resulted in impaired maturation of nicastrin and reduced expression of presenilin 1, presenilin 2, and PEN-2 proteins
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AA Sequence

MTAAVFFGCAFIAFGPALALYVFTIATEPLRIIFLIAGAFFWLVSLLISSLVWFMARVIIDNKDGPTQKY      1 - 70
LLIFGAFVSVYIQEMFRFAYYKLLKKASEGLKSINPGETAPSMRLLAYVSGLGFGIMSGVFSFVNTLSDS     71 - 140
LGPGTVGIHGDSPQFFLYSAFMTLVIILLHVFWGIVFFDGCEKKKWGILLIVLLTHLLVSAQTFISSYYG    141 - 210
INLASAFIILVLMGTWAFLAAGGSCRSLKLCLLCQDKNFLLYNQRSR                           211 - 257
//

Text Mined References (30)

PMID Year Title
23665252 2013 Imatinib methanesulfonate reduces hippocampal amyloid-? and restores cognitive function following repeated endotoxin exposure.
19774691 2009 Correlation between HIV-1 seropositivity and prevalence of a gamma-secretase polymorphism in two distinct ethnic populations.
18987747 2008 Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis.
17986144 2007 Metalloproteases and gamma-secretase: new membrane partners regulating p75 neurotrophin receptor signaling?
17466415 2008 Interaction between the APOE epsilon4 allele and the APH-1b c + 651T > G SNP in Alzheimer's disease.
16757808 2006 Characterization of APH-1 mutants with a disrupted transmembrane GxxxG motif.
16630834 2006 Ligand-dependent cleavage of the P75 neurotrophin receptor is necessary for NRIF nuclear translocation and apoptosis in sympathetic neurons.
16572171 2006 Analysis of the DNA sequence and duplication history of human chromosome 15.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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