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Gene Gene information from NCBI Gene database.
Entrez ID 83464
Gene name Aph-1B gamma-secretase subunit
Gene symbol APH1B
Synonyms (NCBI Gene)
APH-1BPRO1328PSFLTAAV688aph-1beta
Chromosome 15
Chromosome location 15q22.2
Summary 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.
431 Show/Hide all (431)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36 Show/Hide all (36)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 15274632
GO:0005515 Function Protein binding IPI 12297508, 32296183, 32814053
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005789 Component Endoplasmic reticulum membrane NAS 15274632
GO:0005886 Component Plasma membrane ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607630 24080 ENSG00000138613
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 Pathway Reactome Pathway
Notch signaling pathway Nuclear signaling by ERBB4
Alzheimer disease 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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (10)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 30617256, 34493870, 35379992, 37198259, 37985413, 39129223, 39537608
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (13)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 33152005 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 34732252 Stimulate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 30617256
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 27573188 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 33152005 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease LHGDN 18987747
★★★★★
★☆☆☆☆
Found in Text Mining only
Dementia, familial Danish Dementia BEFREE 26942869
★★★★★
★☆☆☆☆
Found in Text Mining only
Frontotemporal Dementia Frontotemporal dementia Pubtator 33152005 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Myopia Myopia GWASCAT_DG 27182965
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurodevelopmental Disorders Neurodevelopmental Disorders BEFREE 15721236
★★★★★
★☆☆☆☆
Found in Text Mining only