APH1B (aph-1 homolog B, gamma-secretase subunit)

2007-04-01  

Identity

HGNC
APH1B
LOCATION
15q22.2
LOCUSID
83464
ALIAS
APH-1B,PRO1328,PSFL,TAAV688
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83464
MIM: 607630
HGNC: 24080
Ensembl: ENSG00000138613

Variants:

dbSNP: 83464
ClinVar: 83464
TCGA: ENSG00000138613
COSMIC: APH1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138613ENST00000261879Q8WW43
ENSG00000138613ENST00000380340Q4R1J8
ENSG00000138613ENST00000380343Q8WW43
ENSG00000138613ENST00000559971H0YM95
ENSG00000138613ENST00000560353H0YLT0
ENSG00000138613ENST00000560890H0YKZ9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

References

Pubmed IDYearTitleCitations
152860822004Identification of distinct gamma-secretase complexes with different APH-1 variants.52
155913162005Gamma-secretase complex assembly within the early secretory pathway.24
127630212003APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.20
236652522013Imatinib methanesulfonate reduces hippocampal amyloid-β and restores cognitive function following repeated endotoxin exposure.6
276085972016Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase.6
156294232005Expression profiles of two human APH-1 genes and their roles in formation of presenilin complexes.4
167578082006Characterization of APH-1 mutants with a disrupted transmembrane GxxxG motif.3
158235522005Identification and characterization of a novel human APH-1b splice variant lacking exon 4.2
189877472008Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis.2
189877472008Male-specific association between a gamma-secretase polymorphism and premature coronary atherosclerosis.2

Citation

Dessen P

APH1B (aph-1 homolog B, gamma-secretase subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47465/aph1b-(aph-1-homolog-b-gamma-secretase-subunit)