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CRYAA crystallin alpha A [ Homo sapiens (human) ]

Gene ID: 1409, updated on 7-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 Sharpr-MPRA regulatory region 9314

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

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
 
structural molecule activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
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 
protein-containing complex 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..8775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000394.4NP_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, 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
    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.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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