Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83464
Gene name Gene Name - the full gene name approved by the HGNC.
Aph-1B gamma-secretase subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APH1B
Synonyms (NCBI Gene) Gene synonyms aliases
APH-1B, PRO1328, PSFL, TAAV688, aph-1beta
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex.
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019680 hsa-miR-375 Microarray 20215506
MIRT789230 hsa-miR-105 CLIP-seq
MIRT789231 hsa-miR-1226 CLIP-seq
MIRT789232 hsa-miR-124 CLIP-seq
MIRT789233 hsa-miR-1253 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12297508, 32296183, 32814053
GO:0005783 Component Endoplasmic reticulum IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0007219 Process Notch signaling pathway IBA 21873635
GO:0007220 Process Notch receptor processing IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607630 24080 ENSG00000138613
Protein
UniProt ID Q8WW43
Protein name Gamma-secretase subunit APH-1B (APH-1b) (Aph-1beta) (Presenilin-stabilization factor-like)
Protein function Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (amyloid-beta precursor protein). It probably represents a stabilizing cofact
PDB 8OQY , 8OQZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06105 Aph-1 2 238 Aph-1 protein Family
Tissue specificity TISSUE SPECIFICITY: Weakly or not expressed in leukocytes, lung, placenta, small intestine, liver, kidney, spleen thymus, colon, skeletal muscle, heart and brain. {ECO:0000269|PubMed:12740439}.
Sequence
Sequence length 257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Notch signaling pathway
Alzheimer disease
  Nuclear signaling by ERBB4
Regulated proteolysis of p75NTR
NRIF signals cell death from the nucleus
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
EPH-ephrin mediated repulsion of cells
NOTCH3 Activation and Transmission of Signal to the Nucleus
Noncanonical activation of NOTCH3
Amyloid fiber formation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
30617256
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)
27182965
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 33152005
Alzheimer Disease Stimulate 34732252
Atherosclerosis Associate 27573188
Autoimmune Diseases Associate 33152005
Frontotemporal Dementia Associate 33152005
Inflammation Associate 24341743
Microphthalmia Syndromic 10 Associate 34732252
Ovarian Neoplasms Associate 37512088
Parkinson Disease Associate 25808939