Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol XPNPEP3 contributors: mct - updated : 06-06-2019
HGNC name X-prolyl aminopeptidase (aminopeptidase P) 3, putative
HGNC id 28052
Corresponding disease
NPHPL1 nephronophthisis-like nepropathy-1
Location 22q13.2      Physical location : 41.253.093 - 41.323.878
Synonym name
  • aminopeptidase P3
  • probable Xaa-Pro aminopeptidase 3
    • Synonym symbol(s) APP3, NPHPL1, ICP55
    EC.number 3.4.11.9
    DNA
    TYPE functioning gene
    STRUCTURE 70.79 kb     10 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3060 57 507 - 2015 25609706
  • APP3m, mitichondrial
  • APP3m was recruited to TNFR2 and shown to regulate TNF-TNFR2-dependent phosphorylation of JNK1 (also known as MAPK8) and JNK2 (also known as MAPK9)
  • released from mitochondria upon TNF stimulation in the absence of mitochondrial outer membrane permeabilization (MOMP)
  • likely exerts an anti-apoptotic function
    • 11 - 2769 - 428 cytosolic 2005 15708373
  • also called APP3C
  • containing 92bp exon 3 (presence of the 92 bp exon 3 places a stop codon in-frame with the translational start site in exon 1)
    • 3 - 1462 - 55 - 2005 15708373
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrinepancreas   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • peptidase M24B family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • aminopeptidase activity
  • having a likely cilia-related function
  • transcriptional target of Wnt/CTNNB1 pathway with particular significance for colorectal cancer (CRC)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • XPNPEP3-mediated TNFR2 signal transduction mechanism that induces activation of JNK1 and JNK2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHPL1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in tumors exhibiting activated Wnt/CTNNB1 signaling
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS