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FLASH GENE
Symbol GUCA1B contributors: mct - updated : 26-11-2020
HGNC name guanylate cyclase activator 1B (retina)
HGNC id 4679
Corresponding disease
RP48 retinitis pigmentosa 48
Location 6p21.1      Physical location : 42.151.022 - 42.162.694
Genatlas name uroguanylin
Synonym name guanylate cyclase-activating protein 2
Synonym symbol(s) GCAP2, GUCA2, RP48, DKFZp686E1183
DNA
TYPE functioning gene
STRUCTURE 11.70 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 2270 - 200 - 2015 25616661
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunethymus    
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • EF-hand Ca2+ binding center
  • three region containing specific sequences for regulation of RETGC (GUCY2D)
  • HOMOLOGY
    Homologene
    FAMILY calmodulin family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • regulating phosphoreceptor membrane guanylyl cyclase RETGC2 in a Ca2+ sensitive manner (but less effective than GCAP1 for stimulating RETGC1)
  • neuronal calcium sensors, which confer Ca2+ sensitivity to guanylyl cyclase activity
  • playing a role in regulating the photoresponse
  • functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution, and are essential for photoreceptor cell integrity
  • GUCA1A and GUCA1B (or guanylyl cyclase-activating proteins [GCAPs]) have been identified as important mediators of the photoreceptor response to changes in intracellular Ca2+
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
  • Mg²&
  • 8314; seems to affect the conformation of GCAP2 both at high and low [Ca²&
    8314;], however the variations are more substantial for myristoylated GCAP2 in the absence of Ca²&
    8314;
    protein
  • both GUCA1A and GUCA1B stimulate GUCY2F equally well at saturation (
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP48
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS