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Aliases for CRYAA Gene

Aliases for CRYAA Gene

  • Crystallin Alpha A 2 3 5
  • Heat Shock Protein Beta-4 3 4
  • CRYA1 3 4
  • HSPB4 3 4
  • Human AlphaA-Crystallin (CRYA1) 3
  • Alpha-Crystallin A Chain 3
  • Crystallin, Alpha A 2
  • Crystallin, Alpha-1 3
  • CTRCT9 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 Cataract 24, Anterior Polar. 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 LOC102724652.

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

Enhancers for CRYAA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F043158 1.7 FANTOM5 Ensembl ENCODE 7.4 -6.5 -6453 7.7 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF766 ZNF302 WDR4 U2AF1 ENSG00000233754 SIK1 HSF2BP RRP1B PWP2 CRYAA LINC01678 ENSG00000228120
GH21F043338 1.4 FANTOM5 Ensembl ENCODE 1.8 +173.7 173693 9.0 HDGF PKNOX1 ARID4B SIN3A YBX1 SLC30A9 ZNF207 FOS KLF13 DEK CSTB PKNOX1 CRYAA LINC00322 LINC01679
GH21F043171 1 Ensembl ENCODE 0.8 +3.7 3668 3.2 PKNOX1 ARNT MLX CREB3L1 ZFP64 ARID4B DMAP1 SLC30A9 ZNF766 KLF13 WDR4 PWP2 U2AF1 ENSG00000233754 LINC01678 CRYAA LOC105372821
GH21F043170 0.7 ENCODE 0.8 +1.1 1118 0.2 SAP130 NRF1 HMBOX1 SMAD4 ZNF600 NR2F6 ZIC2 RXRB CRYAA LOC105372821
GH21F043174 1.3 FANTOM5 Ensembl ENCODE 0.4 +8.0 7976 5.3 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B DMAP1 YBX1 ZNF2 SLC30A9 ZNF207 WDR4 U2AF1 ENSG00000233754 HSF2BP SIK1 LOC101928255 CRYAA LOC105372821
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CRYAA on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYAA Gene

Chromosome:
21
Start:
43,169,008 bp from pter
End:
43,172,810 bp from pter
Size:
3,803 bases
Orientation:
Plus strand

Genomic View for CRYAA Gene

Genes around CRYAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 Ser 162
  • Modification sites at PhosphoSitePlus

Other Protein References for CRYAA Gene

No data available for DME Specific Peptides for CRYAA Gene

Domains & Families for CRYAA Gene

Gene Families for CRYAA Gene

Suggested Antigen Peptide Sequences for CRYAA Gene

Graphical View of Domain Structure for InterPro Entry

P02489

UniProtKB/Swiss-Prot:

CRYAA_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
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

Human Phenotype Ontology for CRYAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CRYAA Gene

miRTarBase miRNAs that target CRYAA

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
extracellular 5
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CRYAA Gene

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

Pathways & Interactions 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

Gene Ontology (GO) - Biological Process for CRYAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IMP 9467006
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

No data available for SIGNOR curated interactions for CRYAA Gene

Drugs & Compounds for CRYAA Gene

(14) Drugs for CRYAA Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for CRYAA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

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 differential expression in normal tissues according to GTEx for CRYAA Gene

This gene is overexpressed in Kidney - Cortex (x40.4) and Liver (x11.2).

Protein differential expression in normal tissues from HIPED for CRYAA Gene

This gene is overexpressed in Vitreous humor (61.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYAA Gene



Protein tissue co-expression partners for CRYAA Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYAA Gene:

CRYAA

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 expression patterns with CRYAA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CRYAA Gene

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 34 35
  • 99.61 (n)
cow
(Bos Taurus)
Mammalia CRYAA 34 35
  • 90.75 (n)
dog
(Canis familiaris)
Mammalia CRYAA 34 35
  • 90.56 (n)
rat
(Rattus norvegicus)
Mammalia Cryaa 34
  • 89.4 (n)
mouse
(Mus musculus)
Mammalia Cryaa 34 35
  • 88.44 (n)
oppossum
(Monodelphis domestica)
Mammalia CRYAA 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CRYAA 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves CRYAA 34 35
  • 78.61 (n)
lizard
(Anolis carolinensis)
Reptilia CRYAA 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488185 34
  • 74.9 (n)
zebrafish
(Danio rerio)
Actinopterygii cryaa 34 34 35
  • 74.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005548 34
  • 54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 35
  • 34 (a)
OneToMany
Species where no ortholog for CRYAA was found in the sources mined by GeneCards:
  • 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

(5) 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
rs121912973 Cataract 9, multiple types (CTRCT9) [MIM:604219], Pathogenic 43,172,105(+) CCACC(A/G)CCGCT upstream-variant-2KB, reference, missense
rs397515624 Cataract 9, multiple types (CTRCT9) [MIM:604219], Pathogenic 43,169,133(+) TCAAG(C/T)GCACC intron-variant, upstream-variant-2KB, reference, missense
rs74315439 Cataract 9, multiple types (CTRCT9) [MIM:604219], Pathogenic 43,172,104(+) TCCAC(C/T)GCCGC upstream-variant-2KB, reference, missense
rs74315441 Cataract 9, multiple types (CTRCT9) [MIM:604219], Pathogenic 43,169,244(+) ACTAC(C/T)GCCAG intron-variant, upstream-variant-2KB, reference, missense
VAR_036564 A breast cancer sample

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

Variant ID Type Subtype PubMed ID
esv2666871 CNV deletion 23128226
nsv1056684 CNV gain 25217958
nsv1067412 CNV gain 25217958
nsv3535 CNV insertion 18451855
nsv509798 CNV insertion 20534489
nsv587664 CNV loss 21841781
nsv953638 CNV deletion 24416366

Variation tolerance for CRYAA Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.70; 14.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYAA Gene

Human Gene Mutation Database (HGMD)
CRYAA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYAA

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

Disorders for CRYAA Gene

MalaCards: The human disease database

(36) MalaCards diseases for CRYAA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 9, multiple types
  • cataract 9 multiple types
cataract 24, anterior polar
  • cataract 24
cataract microcornea syndrome
  • microcornea cataract syndrome
cataract 44
  • ctrct44
cataract 16, multiple types
  • cataract 16 multiple types
- elite association - COSMIC cancer census association via MalaCards
Search CRYAA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRYAA_HUMAN
  • 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.
  • 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}.

Relevant External Links for CRYAA

Genetic Association Database (GAD)
CRYAA
Human Genome Epidemiology (HuGE) Navigator
CRYAA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYAA
genes like me logo Genes that share disorders with CRYAA: view

No data available for Genatlas for CRYAA Gene

Publications for CRYAA Gene

  1. A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract. (PMID: 19595763) Bhagyalaxmi S.G. … Padma T. (Biochim. Biophys. Acta 2009) 3 22 46 64
  2. C-Terminal truncation affects subunit exchange of human alphaA-crystallin with alphaB-crystallin. (PMID: 17909943) Kallur L.S. … Abraham E.C. (Mol. Cell. Biochem. 2008) 3 4 22 64
  3. Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). (PMID: 18302245) Richter L. … Bateman J.B. (Am. J. Med. Genet. A 2008) 3 4 22 64
  4. A novel mutation in AlphaA-crystallin (CRYAA) caused autosomal dominant congenital cataract in a large Chinese family. (PMID: 18407550) Gu F. … Ma X. (Hum. Mutat. 2008) 3 4 22 64
  5. Structural and functional roles of deamidation and/or truncation of N- or C-termini in human alpha A-crystallin. (PMID: 18754677) Chaves J.M. … Srivastava O.P. (Biochemistry 2008) 3 4 22 64

Products for CRYAA Gene

Sources for CRYAA Gene

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