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    CRYAA crystallin alpha A [ Homo sapiens (human) ]

    Gene ID: 1409, updated on 8-Jan-2019

    Summary

    Official Symbol
    CRYAAprovided by HGNC
    Official Full Name
    crystallin alpha Aprovided by HGNC
    Primary source
    HGNC:HGNC:2388
    See related
    Ensembl:ENSG00000160202 MIM:123580
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRYA1; HSPB4; CTRCT9
    Summary
    Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]
    Expression
    Restricted expression toward kidney (RPKM 43.9) See more
    Orthologs

    Genomic context

    See CRYAA in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (43169008..43172810)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (44589141..44592915)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928369 Neighboring gene mitochondrial ribosomal protein L51 pseudogene 2 Neighboring gene uncharacterized LOC107987300 Neighboring gene FOXM1-regulated, gastric cancer associated Neighboring gene uncharacterized LOC105372821 Neighboring gene long intergenic non-protein coding RNA 322

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Cataract, autosomal dominant
    MedGen: C1858679 OMIM: 604219 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of eye lens IEA
    Inferred from Electronic Annotation
    more info
     
    unfolded protein binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    unfolded protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of intracellular transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT protein refolding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    alpha-crystallin A chain
    Names
    crystallin, alpha-1
    heat shock protein beta-4
    human alphaA-crystallin (CRYA1)

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_009823.1 RefSeqGene

      Range
      4978..8780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000394.3NP_000385.1  alpha-crystallin A chain isoform 1

      See identical proteins and their annotated locations for NP_000385.1

      Status: REVIEWED

      Source sequence(s)
      BC113598, BE552434, BM679139, BX118596
      Consensus CDS
      CCDS13695.1
      UniProtKB/Swiss-Prot
      P02489
      UniProtKB/TrEMBL
      A0A140G945
      Related
      ENSP00000291554.2, ENST00000291554.6
      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:150
      Crystallin; Alpha crystallin A chain, N terminal
    2. NM_001363766.1NP_001350695.1  alpha-crystallin A chain isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP001631
      Consensus CDS
      CCDS86989.1
      Conserved Domains (1) summary
      cl00175
      Location:26108
      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: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

      Range
      43169008..43172810
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261093.4XP_005261150.1  alpha-crystallin A chain isoform X1

      UniProtKB/TrEMBL
      E9PHE4
      Related
      ENSP00000381200.1, ENST00000398132.1
      Conserved Domains (1) summary
      cl00175
      Location:26108
      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.
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