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FLASH GENE
Symbol ATP6AP2 contributors: mct - updated : 10-02-2014
HGNC name ATPase, H+ transporting, lysosomal accessory protein 2
HGNC id 18305
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an extramembrane catalytic sector
  • the V-type ATPases associated with a single transmembrane proton-conducting sector similar to a region of the human renin receptor 1
  • a large extracellular domain (&
  • 8764;310 AAs)
  • a single transmembrane domain (&
  • 8764;20 AAs)
  • an intracellular domain (&
  • 8764;19 AAs), playing a role in protein oligomerization
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • robust expression in the endoplasmic reticulum (ER) or the Golgi but not in the plasma membrane
  • present within the plasma membrane and membranes of some organelles such as endosome, lysosome and secretory vesicle
  • basic FUNCTION
  • playing a fundamental role in energy conservation, secondary active transport, acidification of intracellular compartments
  • playing an essential role for blood pressure control and water-electrolyte balance
  • involved in the development and progression of kidney disease in diabetes by enhancing renal production of the inflammatory cytokines TNF and IL1beta, independent of renal ANGPT2 effects
  • single-pass transmembrane domain protein that is involved in a range of processes such as intracellular pH homeostasis, renin–angiotensin system and WNT signaling
  • brain ATP6AP2 is functional and plays a role in the neural control of cardiovascular functions
  • plays an important role in the development of cardiovascular diseases
  • important component of the renin-angiotensin system (RAS), which regulates blood pressure and cardiovascular function
  • essential accessory component of the vacuolar ATPase required for lysosomal degradative functions and autophagy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • transmembrane sector of the V-type ATPases
  • renin and prorenin
  • is cleaved by ADAM19 in the Golgi resulting in two fragments, N-terminal and C-terminal fragment
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRXSH , XPDS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in the kidney with diabetic nephropathy up to the end-stage renal disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS