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FLASH GENE
Symbol CRYBA1 contributors: mct - updated : 26-10-2018
HGNC name crystallin, beta A1
HGNC id 2394
Corresponding disease
CCZS cataract congenital, zonular, with sutural opacities
Location 17q11.2      Physical location : 27.573.874 - 27.581.500
Synonym name
  • crystallin, beta A3
  • eye lens structural protein
    • Synonym symbol(s) CRYB1
    DNA
    TYPE functioning gene
    STRUCTURE 7.00 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see NF1 NF1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - initiation site 798 23.1 198 - Hogg
  • generated by use of an alternate translation initiation site
  • two isoforms produced from a single mRNA
    • - initiation site 798 25.2 215 - Hogg
  • generated by use of an alternate translation initiation site
  • two isoforms produced from a single mRNA
    		•
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyelens   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text fetal eye, lens
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two structural motifs characteristic of the beta-gamma crystallin superfamily
  • four homologous greek key motifs, linked by a connecting peptide and N- and C-terminal extensions
    • conjugated Other
    HOMOLOGY
    interspecies ortholog to murine Cryba1
    homolog to rattus Rn.20326
    homolog to xenopus Xl.19126
    homolog to C.elegans C05E4.8
    Homologene
    FAMILY
  • beta/gamma-crystallin superfamily
  • a beta acidic group member
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • homo/heterodimer or complexes of higher order
  • the structure of the beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms
  • dominant structural components of the vertebrate eye lens
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CCZS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    CRYBA1/SLC36A4/V-Atpase complex is a potential therapeutic target for preventing or delaying the progression of dry age‐related macular degeneration (AMD)
    ANIMAL & CELL MODELS
  • knockout mouse for Cryba1 have pathological changes in the retina, mimicking some characteristics of dry AMD