2. Gene
  3. Aph1a - aph1 homolog A, gamma secretase subunit Gene

Aph1a - aph1 homolog A, gamma secretase subunit Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as APH-1a

Gene ID: 226548 | Gene type: protein coding

About Aph1a

Summary

This gene encodes a subunit of the gamma-secretase complex, which is localized to the endoplasmic reticulum and golgi apparatus. Gamma-secretase is a multi-protein enzyme that catalyzes intramembraneous proteolysis of type I transmembrane proteins and is essential for many signaling pathways, including the Notch signaling pathway. Studies suggest that the protein encoded by this locus binds directly to substrates of the gamma-secretase complex, including the beta-amyloid precursor protein which is associated with Alzheimer disease progression. This gene is required for normal embryonic development and survival, and disruption is associated with defects in the yolk sack angiogenesis, neural tube formation, and somitogenesis. A pseudogene of this gene is located on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Aph1a Products(2)

mRNA Protein Name
NM_146104.3 NP_666216.1 gamma-secretase subunit APH-1A isoform 1
NM_146134.2 NP_666246.1 gamma-secretase subunit APH-1A isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables endopeptidase activator activity IMP
IMP: Inferred from mutant phenotype
12522139 MGI
enables enzyme binding IPI
IPI: Inferred from physical interaction
12522139 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
15474363 MGI
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within Notch receptor processing IMP
IMP: Inferred from mutant phenotype
20130175 MGI
acts upstream of or within metanephros development IMP
IMP: Inferred from mutant phenotype
12952904 MGI
involved in positive regulation of endopeptidase activity IMP
IMP: Inferred from mutant phenotype
12522139 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

gamma-secretase subunit APH-1A

anterior pharynx defective 1a homolog

aph-1alpha

Related Agents

Pre-clinical Phase
Bioactive Molecules (5)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-156011 PSEN1-IN-1 Inhibitor / Unkown
HY-156012 PSEN1-IN-2 Inhibitor / Unkown
HY-RS00817 APH1A Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21481 Aph1a Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27999 Aph1a Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Aph1a NCBI NCBI:51107