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FLASH GENE
Symbol CRYAA contributors: mct/npt/pgu - updated : 22-02-2010
HGNC name crystallin, alpha A
HGNC id 2388
Corresponding disease
ADCC1 congenital cataract, zonular central nuclear 1
ARCC1 congenital cataract, autosomal recessive 1
Location 21q22.3      Physical location : 44.589.140 - 44.592.913
Synonym name
  • heat-shock protein beta-4
  • alpha crystallin A chain
  • crystallin, alpha-1
  • Synonym symbol(s) HSPB4, CRYA1
    DNA
    TYPE functioning gene
    STRUCTURE 3.77 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see COL6A2 , TFF1 , PFKL PFKL
    Physical map
    TFF3 21q22.3 trefoil factor 3 (intestinal) TFF2 21q22.3 trefoil factor 2 (spasmolytic protein 1) TFF1 21q22.3 trefoil factor 1 (breast cancer, estrogen-inducible sequence expressed in) TMPRSS3 21q22.3 transmembrane protease, serine 3 UBASH3A 21q22.3 ubiquitin associated and SH3 domain containing, A TSGA2 21q22.3 testes specific A2 homolog (mouse) SLC37A1 21q22.3 solute carrier family 37 (glycerol-3-phosphate transporter), member 1 PDE9A 21q22.3 phosphodiesterase 9A WDR4 21q22.3 WD repeat domain 4 NDUFV3 21q22.3 NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa PKNOX1 21q22.3 PBX/knotted 1 homeobox 1 CBS 21q22.3 cystathionine-beta-synthase U2AF1 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 MRPL51P2 21q22.3 U2(RNU2) small nuclear RNA auxillary factor 1 LOC388829 21 LOC388829 CRYAA 21q22.3 crystallin, alpha A SNF1LK 21q22.3 SNF1-like kinase C21orf125 21 chromosome 21 open reading frame 125 C21orf84 21q22.1 chromosome 21 open reading frame 84 HSF2BP 21q22.3 heat shock transcription factor 2 binding protein RPL31P1 21q22.3 ribosomal protein L31 pseudogene 1 H2BFS 21q22.3 H2B histone family, member S KIAA0179 21q22.3 H2B histone family, member S PDXK 21q22.3 pyridoxal (pyridoxine, vitamin B6) kinase C21orf124 21q22.3 chromosome 21 open reading frame 124 C21orf97 21q22.3 chromosome 21 open reading frame 97 CSTB 21q22.3 cystatin B (stefin B) D21S2056E 21q22.3 DNA segment on chromosome 21 (unique) 2056 expressed sequence LOC284837 21q22.3 hypothetical protein LOC284837 MYL6P 21q22.3 myosin, light polypeptide 6, pseudogene AGPAT3 21q22.3 1-acylglycerol-3-phosphate O-acyltransferase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 1114 - 173 - 1992 1730617
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyelens    Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye, lens
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • an N-ter involved in multimerization
  • a C-terminus with the alpha cristallin domain responsible for chaperone function, C-terminal flexible arm significantly affecting the interaction with target proteins, and needed to keep the chaperone-target protein complex soluble
  • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Cryaa (94,80 pc)
    Homologene
    FAMILY
  • alpha crystallin superfamily
  • small heat shock protein (sHSP or HSP20) subfamily
  • CATEGORY chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • contributing to the refractive index and transparency of lens
  • preventing the aggregation of other crystallins and proteins
  • involved in chaperone activity
  • potentially involved in maintenance of cytoskeletal network in muscle
  • survival-promoting protein that enhances cellular resistance to apoptosis
  • molecular chaperones that protect vertebrate eye lens proteins from detrimental protein aggregation
  • a lens chaperone that plays an essential role in the transparency and refractive properties of the lens
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • complexing with CRYAB (ratio AA3/AB1) (30-40 subunits,600-800 kDa)
  • aggragating with alpha B in a 3:1 ratio
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CRYAB
  • cell & other
    REGULATION
    inhibited by methionine oxidation in combination with loss of MSRA repair which causes loss of alpha-crystallin chaperone function
    ASSOCIATED DISORDERS
    corresponding disease(s) ADCC1 , ARCC1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS