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FLASH GENE
Symbol YPEL1 contributors: mct - updated : 17-11-2020
HGNC name yippee-like 1 (Drosophila)
HGNC id 12845
Location 22q11.21      Physical location : 22.051.827 - 22.090.071
Synonym name
  • DiGeorge syndrome-related protein
  • protein yippee-like 1
  • Synonym symbol(s) FKSG3, MGC64992
    DNA
    TYPE functioning gene
    STRUCTURE 38.25 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located in the region associated with the DiGeorge syndrome
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 4301 13.6 119 - 2001 11473580
    EXPRESSION
    Rna function mRNA expression in pancreas
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nuclear localization signal (NLS)
  • HOMOLOGY
    interspecies homolog to murine Ypel1
    homolog to C.elegans 3F47
    homolog to Drosophila Yippee
    Homologene
    FAMILY
  • yippee family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • may regulate cellular morphology and function during cranofacial development
  • may play a role in epitheloid conversion of fibroblasts
  • involved in mesenchymal to epithelial-like transition during tissue development
  • . might be an important factor during the development and malignant transformation of tissues
  • possess a closely related function in the cell division cycle
  • potential role for YPEL1 in the pathogenesis of the craniofacial abnormalities
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • may be binding ion Zn2+
  • protein
    cell & other
    REGULATION
    Other is regulated by bone morphogenetic protein signaling
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    deregulation in perineural invasive pancreatic cancer cells
    Susceptibility to oculo-auriculo-vertebral spectrum (OAVS)
    Variant & Polymorphism other
  • two SNVs located in the 5'UTR of YPEL1 are associated with oculo-auriculo-vertebral spectrum (OAVS)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS