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FLASH GENE
Symbol ARVCF contributors: mct - updated : 19-10-2016
HGNC name armadillo repeat gene deletes in velocardiofacial syndrome
HGNC id 728
Location 22q11.21      Physical location : 19.957.402 - 20.004.309
Synonym name armadillo repeat protein
Synonym symbol(s) FLJ35345
DNA
TYPE functioning gene
STRUCTURE 46.00 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 4031 104 962 - -
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineparathyroid   highly
Reproductivemale systemprostate  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil domain
  • ten repeats of the Armadillo motif
  • a predicted nuclear-targeting sequence suggesting that it may have a function as a nuclear protein
    • HOMOLOGY
    interspecies homolog to Drosophila armadillo repeat gene
    Homologene
    FAMILY
  • beta-catenin family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • involved in protein-protein interaction at adherens juctions
  • playing an important role in the formation of adherens junction complexes, which are thought to facilitate communication between the inside and outside environments of a cell
  • is likely involved in alternative splicing, generating proteomic diversity, and its deregulation may contribute to diseased states, such as cancer and neurological disorders
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ARVCF interacts with different proteins involved in mRNA-processing: SRSF1 (SF2/ASF), DDX5, and HNRNPH2
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in del22q11
    Susceptibility to schizophrenia in a Chinese Han population
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS