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Aliases for CRYAA Gene

Aliases for CRYAA Gene

  • Crystallin, Alpha A 2 3
  • CRYA1 3 4 6
  • Heat Shock Protein Beta-4 3 4
  • CTRCT9 3 6
  • HSPB4 3 4
  • Human AlphaA-Crystallin (CRYA1) 3
  • Alpha-Crystallin A Chain 3
  • Crystallin, Alpha-1 3

External Ids for CRYAA Gene

Previous HGNC Symbols for CRYAA Gene

  • CRYA1

Previous GeneCards Identifiers for CRYAA Gene

  • GC21P041136
  • GC21P043483
  • GC21P043462
  • GC21P044589
  • GC21P030007

Summaries for CRYAA Gene

Entrez Gene Summary for CRYAA Gene

  • 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]

GeneCards Summary for CRYAA Gene

CRYAA (Crystallin, Alpha A) is a Protein Coding gene. Diseases associated with CRYAA include cataract 9, multiple types and nuclear cataract. Among its related pathways are Protein processing in endoplasmic reticulum and Regulation of degradation of deltaF508 CFTR in CF. GO annotations related to this gene include identical protein binding and structural constituent of eye lens. An important paralog of this gene is HSPB6.

UniProtKB/Swiss-Prot for CRYAA Gene

  • Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.

Gene Wiki entry for CRYAA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYAA Gene

Genomics for CRYAA Gene

Regulatory Elements for CRYAA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CRYAA Gene

Start:
43,169,008 bp from pter
End:
43,172,805 bp from pter
Size:
3,798 bases
Orientation:
Plus strand

Genomic View for CRYAA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRYAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYAA Gene

Proteins for CRYAA Gene

  • Protein details for CRYAA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02489-CRYAA_HUMAN
    Recommended name:
    Alpha-crystallin A chain
    Protein Accession:
    P02489
    Secondary Accessions:
    • Q53X53

    Protein attributes for CRYAA Gene

    Size:
    173 amino acids
    Molecular mass:
    19909 Da
    Quaternary structure:
    • Heteropolymer composed of three CRYAA and one CRYAB subunits. Inter-subunit bridging via zinc ions enhances stability, which is crucial as there is no protein turn over in the lens. Can also form homodimers and higher homooligomers. Age-dependent C-terminal truncation affects oligomerization.

neXtProt entry for CRYAA Gene

Proteomics data for CRYAA Gene at MOPED

Post-translational modifications for CRYAA Gene

  • Acetylation at Lys-70 seems to increase chaperone activity.
  • Deamidation of Asn-101 in lens occurs mostly during the first 30 years of age, followed by a small additional amount of deamidation (approximately 5%) during the next approximately 38 years, resulting in a maximum of approximately 50% deamidation during the lifetime of the individual.
  • O-glycosylated; contains N-acetylglucosamine side chains
  • Phosphorylation on Ser-122 seems to be developmentally regulated. Absent in the first months of life, it appears during the first 12 years of human lifetime. The relative amount of phosphorylated form versus unphosphorylated form does not change over the lifetime of the individual.
  • Undergoes age-dependent proteolytical cleavage at the C-terminus. Alpha-crystallin A(1-172) is the most predominant form produced most rapidly during the first 12 years of age and after this age is present in approximatley 50% of the lens molecules.
  • Glycosylation at Ser162
  • Modification sites at PhosphoSitePlus

Other Protein References for CRYAA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CRYAA (AlphaA Crystallin/CRYAA)

No data available for DME Specific Peptides for CRYAA Gene

Domains for CRYAA Gene

Gene Families for CRYAA Gene

HGNC:
  • HSPB :Heat shock proteins / HSPB

Suggested Antigen Peptide Sequences for CRYAA Gene

Graphical View of Domain Structure for InterPro Entry

P02489

UniProtKB/Swiss-Prot:

CRYAA_HUMAN :
  • P02489
Family:
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with CRYAA: view

Function for CRYAA Gene

Molecular function for CRYAA Gene

GENATLAS Biochemistry: crystallin,alpha polypeptide (alphaA),potentially involved in chaperone activity and maintenance of cytoskeletal network in muscle,alpha crystallin/small hsp family
UniProtKB/Swiss-Prot Function: Contributes to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions.

Gene Ontology (GO) - Molecular Function for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 11700327
GO:0042802 identical protein binding IPI 12601044
GO:0046872 metal ion binding IEA --
GO:0051082 unfolded protein binding IPI 8943244
genes like me logo Genes that share ontologies with CRYAA: view
genes like me logo Genes that share phenotypes with CRYAA: view

Animal Models for CRYAA Gene

MGI Knock Outs for CRYAA:

miRNA for CRYAA Gene

miRTarBase miRNAs that target CRYAA

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYAA

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CRYAA Gene

Localization for CRYAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRYAA Gene

Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYAA Gene COMPARTMENTS Subcellular localization image for CRYAA gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19464326
GO:0005737 cytoplasm IDA 14752512
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CRYAA: view

Pathways for CRYAA Gene

genes like me logo Genes that share pathways with CRYAA: view

Pathways by source for CRYAA Gene

1 KEGG pathway for CRYAA Gene
1 GeneGo (Thomson Reuters) pathway for CRYAA Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IMP 14512969
GO:0032387 negative regulation of intracellular transport IDA 14752512
GO:0042026 NOT protein refolding ISS --
GO:0043066 negative regulation of apoptotic process IMP 14512969
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CRYAA: view

Compounds for CRYAA Gene

(24) Novoseek inferred chemical compound relationships for CRYAA Gene

Compound -log(P) Hits PubMed IDs
mp 26 76.1 3
methylglyoxal 62.6 15
3-hydroxykynurenine 56 3
methionine sulfoxide 55.7 3
succinimide 49.7 1
genes like me logo Genes that share compounds with CRYAA: view

Transcripts for CRYAA Gene

Unigene Clusters for CRYAA Gene

Crystallin, alpha A:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYAA

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CRYAA
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYAA Gene

No ASD Table

Relevant External Links for CRYAA Gene

GeneLoc Exon Structure for
CRYAA
ECgene alternative splicing isoforms for
CRYAA

Expression for CRYAA Gene

mRNA expression in normal human tissues for CRYAA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYAA Gene

This gene is overexpressed in Kidney - Cortex (40.4) and Liver (11.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CRYAA Gene

SOURCE GeneReport for Unigene cluster for CRYAA Gene Hs.184085

mRNA Expression by UniProt/SwissProt for CRYAA Gene

P02489-CRYAA_HUMAN
Tissue specificity: Expressed in eye lens.
genes like me logo Genes that share expressions with CRYAA: view

In Situ Assay Products

Orthologs for CRYAA Gene

This gene was present in the common ancestor of animals.

Orthologs for CRYAA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYAA 35
  • 99.61 (n)
  • 100 (a)
CRYAA 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYAA 35
  • 90.75 (n)
  • 94.22 (a)
CRYAA 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYAA 35
  • 90.56 (n)
  • 92.49 (a)
CRYAA 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cryaa 35
  • 88.44 (n)
  • 94.8 (a)
Cryaa 16
Cryaa 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRYAA 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYAA 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cryaa 35
  • 89.4 (n)
  • 94.8 (a)
chicken
(Gallus gallus)
Aves CRYAA 35
  • 78.61 (n)
  • 83.24 (a)
CRYAA 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRYAA 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488185 35
  • 74.9 (n)
  • 75.29 (a)
zebrafish
(Danio rerio)
Actinopterygii cryaa 35
  • 74.12 (n)
  • 74.71 (a)
cryaa 35
cryaa 36
  • 73 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005548 35
  • 54 (n)
  • 46.67 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 36
  • 34 (a)
OneToMany
Species with no ortholog for CRYAA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYAA Gene

ENSEMBL:
Gene Tree for CRYAA (if available)
TreeFam:
Gene Tree for CRYAA (if available)

Paralogs for CRYAA Gene

Paralogs for CRYAA Gene

Selected SIMAP similar genes for CRYAA Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CRYAA: view

Variants for CRYAA Gene

Sequence variations from dbSNP and Humsavar for CRYAA Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs870137 -- 43,169,949(-) CTGGC(A/G)TTGAT intron-variant, upstream-variant-2KB
rs870138 -- 43,169,655(-) GGTCT(C/T)CGGGA intron-variant, upstream-variant-2KB
rs872331 -- 43,169,105(+) ATGGA(C/T)GTGAC reference, synonymous-codon, upstream-variant-2KB
rs3761381 -- 43,168,145(+) GGGTC(C/T)GCATG upstream-variant-2KB
rs3761382 -- 43,168,313(+) GGGGA(C/T)GATGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CRYAA Gene

Variant ID Type Subtype PubMed ID
esv2666871 CNV Deletion 23128226
nsv913812 CNV Gain 21882294
nsv913828 CNV Loss 21882294
nsv913831 CNV Loss 21882294
nsv509798 CNV Insertion 20534489
nsv3535 CNV Insertion 18451855
nsv913832 CNV Loss 21882294

Relevant External Links for CRYAA Gene

HapMap Linkage Disequilibrium report
CRYAA
Human Gene Mutation Database (HGMD)
CRYAA
Locus Specific Mutation Databases (LSDB)
CRYAA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYAA Gene

Disorders for CRYAA Gene

(1) OMIM Diseases for CRYAA Gene (123580)

UniProtKB/Swiss-Prot

CRYAA_HUMAN
  • Note=Alpha-crystallin A 1-172 is found at nearly twofold higher levels in diabetic lenses than in age-matched control lenses. {ECO:0000269 PubMed:12356833}.
  • Cataract 9, multiple types (CTRCT9) [MIM:604219]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269 PubMed:14512969, ECO:0000269 PubMed:16453125, ECO:0000269 PubMed:18302245, ECO:0000269 PubMed:18407550, ECO:0000269 PubMed:23508780, ECO:0000269 PubMed:9467006}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CRYAA Gene

(8) Novoseek inferred disease relationships for CRYAA Gene

Disease -log(P) Hits PubMed IDs
cataract, autosomal dominant 86.5 3
congenital cataract 82.2 12
cataract 78.5 31
nuclear cataract 69.9 1
shock 59 17

Relevant External Links for CRYAA

Genetic Association Database (GAD)
CRYAA
Human Genome Epidemiology (HuGE) Navigator
CRYAA
genes like me logo Genes that share disorders with CRYAA: view

Publications for CRYAA Gene

  1. Differential phosphorylation of alpha-A crystallin in human lens of different age. (PMID: 8759518) Takemoto L.J. (Exp. Eye Res. 1996) 3 4 23
  2. In vivo acetylation identified at lysine 70 of human lens alphaA- crystallin. (PMID: 9655350) Lin P.P. … Smith J.B. (Protein Sci. 1998) 3 4 23
  3. Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. (PMID: 11123904) Cobb B.A. … Petrash J.M. (Biochemistry 2000) 3 4 23
  4. Enhanced C-terminal truncation of alphaA- and alphaB-crystallins in diabetic lenses. (PMID: 12356833) Thampi P. … Abraham E.C. (Invest. Ophthalmol. Vis. Sci. 2002) 3 4 23
  5. Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. (PMID: 14512969) Mackay D.S. … Shiels A. (Eur. J. Hum. Genet. 2003) 3 4 23

Products for CRYAA Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate CRYAA
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYAA
  • Block miRNA regulation of CRYAA using miScript Target Protectors

Sources for CRYAA Gene

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