Property Summary

NCBI Gene PubMed Count 29
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 8.6e-09
osteosarcoma -1.372 2.5e-06
atypical teratoid / rhabdoid tumor 1.600 1.1e-05
glioblastoma 1.400 3.3e-05
medulloblastoma, large-cell -1.300 2.7e-03
non-small cell lung cancer -1.132 5.2e-23
diabetes mellitus -1.100 3.8e-03
posterior fossa group B ependymoma 1.100 1.8e-08
lung carcinoma 1.500 5.2e-19
ovarian cancer -1.800 1.9e-08
pituitary cancer 1.200 2.0e-06

Synonym

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

Gene

PANTHER Protein Class (1)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 MGI Phenotype (1)

Protein-protein Interaction (12)

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
15591316 dimeric (NCSTN/APH-1) and trimeric (NCSTN/APH-1/PS1) intermediates of gamma-secretase complex assembly are retained within the ER and incorporation of the fourth binding partner (PEN-2) also occurs on immature NCSTN (APH-1)
15286082 both APH-1a splice forms and APH-1b are expressed in peripheral and neuronal cells. APH-1aS, APH-1aL, and APH-1b form separate, proteolytically active gamma-secretase complexes containing either one of the two presenilins.
12763021 Expression of APH-1b increases amyloid beta peptide levels and gamma-secretase activity.

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.
15823552 2005 Identification and characterization of a novel human APH-1b splice variant lacking exon 4.
15721744 2005 p75NTR--live or let die.
15629423 2005 Expression profiles of two human APH-1 genes and their roles in formation of presenilin complexes.
15591316 2005 Gamma-secretase complex assembly within the early secretory pathway.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15286082 2004 Identification of distinct gamma-secretase complexes with different APH-1 variants.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12843241 2003 Proteolytic processing of the p75 neurotrophin receptor and two homologs generates C-terminal fragments with signaling capability.
12787561 Ten years on: mediation of cell death by the common neurotrophin receptor p75(NTR).
12763021 2003 APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
12740439 2003 Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12471034 2003 APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.
12297508 2002 Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.
12110170 2002 aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.