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FLASH GENE
Symbol CCDC28B contributors: mct - updated : 03-06-2014
HGNC name coiled-coil domain containing 28B
HGNC id 28163
Location 1p35.1      Physical location : 32.666.201 - 32.670.991
Synonym symbol(s) MGC1203, RP4-622L5.5
DNA
TYPE functioning gene
STRUCTURE 5.01 kb     6 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 895 - 200 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Lymphoid/Immunelymph node   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a C-terminal coiled coil domain, a motif typically involved in mediating protein–protein interactions
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text pericentriolar protein
    basic FUNCTION
  • pericentriolar protein that interacts and colocalizes with the BBS proteins
  • exerting an epistatic effect on the developmental phenotype of BBS
  • is a novel protein involved in the process of ciliogenesis whilst providing functional insight into the cellular basis of its modifier effect in BBS patients.
  • might regulate ciliary length through its interaction with MAPKAP1 and the regulation of the CRTC2 pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with different BBS proteins, some of which are part of a macromolecular complex termed the BBSome, which plays a role in ciliogenesis
  • interacts with MAPKAP1, a component of the MTOR complex 2 (CRTC2), and this interaction is important both in the context of MTOR signaling
  • is a positive regulator of CRTC2, participating in its assembly/stability and modulating its activity, while not affecting MTOR function
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS