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FLASH GENE
Symbol APH1A contributors: mct - updated : 15-03-2018
HGNC name anterior pharynx defective 1 homolog A (C. elegans)
HGNC id 29509
Location 1p36.13-q31.3      Physical location : 150.237.798 - 150.241.532
Synonym symbol(s) APH-1A, CGI-78
DNA
TYPE functioning gene
STRUCTURE 4.00 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 liver    
Lymphoid/Immunethymus   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
 male systemprostate   
Urinarybladder   highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
seven transmembrane domains
mono polymer complex
HOMOLOGY
interspecies homolog to PSFL
intraspecies homolog to murine Aph1a
Homologene
FAMILY
CATEGORY transcription factor
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
intracellular,cytoplasm,organelle,Golgi
basic FUNCTION
  • required for Glp1/Notch-mediated signaling, both in embryonic patterning and in postembryonic germline proliferation
  • stabilizing the presenilin holoprotein in the gamma-secretase complex
  • member of the gamma-secretase complex, playing a role, with PSEN1, NCSTN, PSENEN, necessary and sufficient to reconstitute gamma-secretase activity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • gamma-secretase complex, a complex composed of a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PSENEN
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with PSENEN (required for Notch pathway signaling, gamma-secretase cleavage of beta-APP, and presenilin protein accumulation)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS