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FLASH GENE
Symbol GUCA1A contributors: mct/npt - updated : 12-11-2009
HGNC name guanylate cyclase activator 1A (retina)
HGNC id 4678
Corresponding disease
CORD17 retinal cone-rod dystrophy 17
Location 6p21.1      Physical location : 42.123.143 - 42.147.792
Synonym name
  • guanylin 1, retina
  • guanylate cyclase-activating protein, photoreceptor 1
  • Synonym symbol(s) GCAP, GUCA, GCA1, GCAP1, GUCA1
    DNA
    TYPE functioning gene
    STRUCTURE 24.65 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    TREM1 6p21.1 triggering receptor expressed on myeloid cells 1 NCR2 6p21.1 natural cytotoxicity triggering receptor 2 FOXP4 6p21.1 forkhead box P4 MDFI 6p21 MyoD family inhibitor TFEB 6p21 transcription factor EB PGC 6p22-p12 progastricsin (pepsinogen C) FRS3 6p21.1 fibroblast growth factor receptor substrate 3 C6orf49 6p21.31 chromosome 6 open reading frame 49 MGC20741 6p21 ubiquitin specific protease 49 USP49 6p12.1 ubiquitin specific protease 49 BYSL 6p21.1 bystin-like CCND3 6p21 cyclin D3 TBN 6p21.1 taube nuss homolog (mouse) LOC389389 6 similar to hypothetical protein BC006605 GUCA1A 6p21.1 guanylate cyclase activator 1A (retina) GUCA1B 6p21.1 guanylate cyclase activator 1B (retina) MRPS10 6p21.1-p12.1 mitochondrial ribosomal protein S10 TRERF1 6p21.1-p12.1 transcriptional regulating factor 1 C6orf133 6p21.1 chromosome 6 open reading frame 133 RDS 6p21.2-p11.1 retinal degeneration, slow LOC391920 6 similar to Vacuolar ATP synthase 16 kDa proteolipid subunit TBCC 6p21.1 tubulin-specific chaperone c KIAA0240 6p21.1 KIAA0240 RPL7L1 6p21.1 ribosomal protein L7-like 1 PTCRA 6p21.2-p21.3 pre T-cell antigen receptor alpha TNRC5 6pter-p12.1 trinucleotide repeat containing 5
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1918 - 201 - Peshenko 2008)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    Visualeyeretina  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Olfactoryolfactory receptor Homo sapiens
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three Ca++ binding motifs,
  • four EF-hand binding the Ca++ (EF-hand 2 is crucial for attachment to RETGC1, but EF-hand 3 is less critical, although it enhances the efficiency of the GUCA1A docking on the target enzyme, metal binding in EF-hand 4 has no role in the primary attachment to the cyclase, and it only triggers the activator-to-inhibitor functional switch in GUCA1A) (Peshenko 2008)
  • HOMOLOGY
    interspecies homolog to murine Guca1a
    Homologene
    FAMILY
    CATEGORY signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    text
  • cone outer and inner segments, in disk membrane regions, and to a lesser extent rod inner and outer segments
  • presence in the scattered population of the olfactory sensory neurons, predominantly present in the cilia, the site of odorant
  • yet, in a smaller quantity, is present also in other regions of the olfactory neuron transduction
  • with PDE2A are coexpressed in the same population of the olfactory sensory neurons
  • basic FUNCTION
  • EF-hand Ca(2+)-binding protein, regulating photoreceptor membrane guanylyl cyclase GUCY2D in a Ca2+ sensitive manner, activating photoreceptor guanylyl cyclase (GUCY2D) in the absence of Ca(2+) and inhibiting GUCY2D in a Ca(2+)-sensitive manner
  • involved in the Ca2+-dependent negative feedback regulation of membrane bound guanylate cyclases in the retina (Kitiratschky 2009)
  • is a natural Ca2+ sensor component of GUCY2D
  • physiological Ca2+ sensor of the odorant-linked GUCY2D transduction system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • constitutive part of the odorant-linked GUCY2D transduction machinery
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+/Mg2+ sensors
  • Mg(2+) binding critical for setting the actual dynamic range of GUCY2D regulation by GUCA1A at physiological levels of free Ca(2+)
  • protein
  • after substitution of Ca(2+) by Mg(2+) in its EF-hands, stimulates photoreceptor guanylyl cyclase, RetGC1, in response to light (Peshenko 2008)
  • binds to the fragment of AAs 836&
  • 8722;1103 of GUCY2D
    cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD17
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS