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FLASH GENE
Symbol CC2D1A contributors: mct/npt - updated : 24-10-2009
HGNC name coiled-coil and C2 domain containing 1A
HGNC id 30237
Corresponding disease
MRAR3 mental retardation, non-syndromic, 3
Location 19p13.12      Physical location : 14.016.955 - 14.041.693
Synonym name
  • putative NFkB activating protein
  • FRE under dual repression-binding protein 1
  • five repressor element under dual repression-binding protein 1
  • Synonym symbol(s) FREUD-1, FLJ20241, FLJ41160, MRT3, FREUD1/AKI1
    DNA
    TYPE functioning gene
    STRUCTURE 24.74 kb     29 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 - 3644 104 951 more abundant in human cells, especially in the nuclear fraction Basel-Vanagaite, Nakamura (2008)
  • also called Freud-1l
  • major isoform that regulates the HTR1A gene (Rogaeva 2007)
  • - - - - 388 - Basel-Vanagaite, Rogaeva (2007)
  • also called Freud-1s
  • lack exons 14 and 16
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Lymphoid/Immunethymus   highly
    Reproductivemale systemprostate  highly
    Skin/Tegumentskin   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a VWFC domain
  • a C2 domain required for the repression
  • HOMOLOGY
    interspecies ortholog to murine Cc2d1a
    Homologene
    FAMILY
  • fibrillar collagen family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text nuclear localization enriched upon inhibition of chromosome region maintenance 1/exportin 1-dependent nuclear export, indicating a dynamic regulation of its nuclear localization (Rogaeva 2007)
    basic FUNCTION
  • putative signal transducer, involved in positive regulation of I-kappaB kinase/NF-kappaB cascade
  • playing an important role in cognitive development
  • induced formation of a PDK1/Akt complex and regulated Akt activation in a concentration-dependent biphasic manner (Nakamura 2008)
  • novel receptor-selective scaffold protein for the PDK1/Akt pathway and present a new activation mechanism of Akt (Nakamura 2008)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRAR3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS