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    Cryaa crystallin, alpha A [ Mus musculus (house mouse) ]

    Gene ID: 12954, updated on 3-Dec-2024

    Summary

    Official Symbol
    Cryaaprovided by MGI
    Official Full Name
    crystallin, alpha Aprovided by MGI
    Primary source
    MGI:MGI:88515
    See related
    Ensembl:ENSMUSG00000024041 AllianceGenome:MGI:88515
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Crya1; lop18; Acry-1; Crya-1; DAcry-1
    Summary
    This gene encodes subunit a, one of two subunits of alpha-crystallin, which is a high molecular weight, soluble aggregate and is a member of the small heat shock protein (sHSP) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. It acts as a molecular chaperone and is the major protein in the eye lens, maintaining the transparency and refractive index of the lens. In mouse, deficiency in this gene is associated with smaller lenses and eyes and with increasing lens opacity with age. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
    Expression
    Biased expression in placenta adult (RPKM 1.1), lung adult (RPKM 1.0) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cryaa in Genome Data Viewer
    Location:
    17 B1; 17 17.09 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (31896905..31900704)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (31677931..31681730)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2, pseudogene 8 Neighboring gene U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:31795932-31796115 Neighboring gene predicted gene, 30187 Neighboring gene predicted gene, 30255

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of eye lens TAS
    Traceable Author Statement
    more info
    PubMed 
    enables structural molecule activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables unfolded protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables unfolded protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within apoptotic process involved in morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within embryonic camera-type eye morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within lens development in camera-type eye IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens fiber cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lens morphogenesis in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within microtubule-based process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of intracellular transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cell growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein folding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein refolding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein stabilization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to UV-A IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to heat IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within response to hydrogen peroxide IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to hydrogen peroxide ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within tubulin complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    alpha-crystallin A chain
    Names
    crystallin, alpha 1
    lens opacity 18

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001278569.1NP_001265498.1  alpha-crystallin A chain isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BB371615, BY114969, CA452236, CX734348, EL605017
      Consensus CDS
      CCDS89060.1
      UniProtKB/TrEMBL
      A0A494B9Q6
      Related
      ENSMUSP00000157708.2, ENSMUST00000228089.3
      Conserved Domains (3) summary
      COG0071
      Location:93174
      IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
      pfam00525
      Location:150
      Crystallin; Alpha crystallin A chain, N terminal
      cl00175
      Location:90174
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
    2. NM_001278570.1NP_001265499.1  alpha-crystallin A chain isoform 3

      See identical proteins and their annotated locations for NP_001265499.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region compared to variant 1. It encodes isoform 3 which is shorter compared to isoform 1.
      Source sequence(s)
      AK143463, BB371615, EL604937
      Consensus CDS
      CCDS89061.1
      UniProtKB/TrEMBL
      Q569M7
      Related
      ENSMUSP00000154747.2, ENSMUST00000228716.3
      Conserved Domains (2) summary
      cd06497
      Location:60145
      ACD_alphaA-crystallin_HspB4; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaA-crystallin (HspB4, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...
      pfam00525
      Location:151
      Crystallin; Alpha crystallin A chain, N terminal
    3. NM_013501.3NP_038529.1  alpha-crystallin A chain isoform 2

      See identical proteins and their annotated locations for NP_038529.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. It encodes isoform 2, also known as alpha-A-ins, which is shorter compared to isoform 1.
      Source sequence(s)
      BB371615, BC085170, EL605017
      Consensus CDS
      CCDS37551.1
      UniProtKB/Swiss-Prot
      P24622, Q6LEL4
      UniProtKB/TrEMBL
      Q546L9
      Related
      ENSMUSP00000019192.6, ENSMUST00000019192.8
      Conserved Domains (3) summary
      COG0071
      Location:84168
      IbpA; Molecular chaperone IbpA, HSP20 family [Posttranslational modification, protein turnover, chaperones]
      pfam00525
      Location:150
      Crystallin; Alpha crystallin A chain, N terminal
      cl00175
      Location:86168
      alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      31896905..31900704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)