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FLASH GENE
Symbol IQCB1 contributors: mct/npt/pgu - updated : 05-05-2014
HGNC name IQ motif containing B1
HGNC id 28949
Corresponding disease
NPHP5 nephronophtisis 5
Location 3q13.33      Physical location : 121.488.609 - 121.553.926
Synonym name
  • nephrocystin-5
  • p53 and DNA damage-regulated IQ motif protein
  • IQ calmodulin-binding motif containing 1
  • nephrocystin-5
  • Synonym symbol(s) KIAA0036, PIQ, NPHP5, SLSN5
    DNA
    TYPE functioning gene
    STRUCTURE 65.32 kb     12 Exon(s)
    MAPPING cloned Y linked N status confirmed
    Map cen - D3S3709 - D3S2916E - IQCB1 - D3S3720 - D3S2793E - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2594 68 598 - 2005 16322217
    - splicing 2283 35 303 - 2005 16322217
    12 splicing 2195 - 465 - 2005 16322217
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeuveaciliary body  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarytubular cell
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two calmodulin-binding IQ domains that flank a central coiled-coil region
  • HOMOLOGY
    interspecies ortholog to murine Iqcb1
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text localized to the connecting cilia and outer segments of photoreceptors and to primary cilia of renal epithelial cells
    basic FUNCTION
  • playing central role in ciliary function
  • represses the expression of TP53 up-regulated modulator of apoptosis that is a key mediator of TP53-induced apoptosis
  • may function to bridge a crosstalk between TP53 and calmodulin-regulated cellular processes
  • may be involved in tumorigenesis and could serve as a valuable diagnostic/prognostic marker for gastrointestinal tumors
  • participate in overlapping signaling pathways to maintain photoreceptor homeostasis
  • Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, Peripherin (PHPN)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with RPGR (both are present in a multiprotein complex in the retina)and with calmodulin
  • down regulated by TP53 and DNA damage inducing agents
  • binds calmodulin and is found in a complex with the retinitis pigmentosa GTPase regulator (RPGR)
  • IQCB1-Ataxin10 interaction
  • B9D2, INVS, and IQCB1 support the transport of a cargo protein, Opsin, but not another photoreceptor ciliary transmembrane protein, PRPH
  • NUP62 and the C termini of NPHP4 and IQCB1 interact with KIF17 and thus spatially map to the inner region of the ciliary gating zone
  • B9D1, AHI1, and the N termini of NPHP4 and IQCB1 interact with the transmembrane protein SSTR3 and thus spatially map to the outer region of the ciliary gating zone
  • cell & other
    REGULATION
    inhibited by by TP53 and DNA damage-inducing agents
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in a number of primary colorectal and gastric tumors when compared with matching normal tissues
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS