CRYAA crystallin alpha A [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:2388
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: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (43169008..43172810)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (41560102..41563905)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (44589118..44592920)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characterization of different-sized human alphaA-crystallin homomers and implications to Asp151 isomerization.
Title: Characterization of different-sized human αA-crystallin homomers and implications to Asp151 isomerization.
Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district buner, KPK, Pakistan.
Title: Mutational analysis of CRYAA gene of cataract and investigating risk assessment factors responsible for eye diseases in district buner, KPK, Pakistan.
Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract.
Title: Association between single nucleotide polymorphisms in exon 3 of the alpha-A-crystallin gene and susceptibility to age-related cataract.
Expression of alphaA-crystallin (CRYAA) in vivo and in vitro models of age-related cataract and the effect of its silencing on HLEB3 cells.
Title: Expression of αA-crystallin (CRYAA) in vivo and in vitro models of age-related cataract and the effect of its silencing on HLEB3 cells.
Structural and functional analysis of SNP rs76740365 G>A in exon-3 of the alpha A-crystallin gene in lens epithelial cells.
Title: Structural and functional analysis of SNP rs76740365 G>A in exon-3 of the alpha A-crystallin gene in lens epithelial cells.
Racemization in cataractous lens from diabetic and aging individuals: analysis of Asp 58 residue in alphaA-crystallin.
Title: Racemization in cataractous lens from diabetic and aging individuals: analysis of Asp 58 residue in αA-crystallin.
Amyloid cross-sequence interaction between Abeta(1-40) and alphaA(66-80) in relation to the pathogenesis of cataract.
Title: Amyloid cross-sequence interaction between Aβ(1-40) and αA(66-80) in relation to the pathogenesis of cataract.
Nucleosomal association and altered interactome underlie the mechanism of cataract caused by the R54C mutation of alphaA-crystallin.
Title: Nucleosomal association and altered interactome underlie the mechanism of cataract caused by the R54C mutation of αA-crystallin.
Glycation-mediated inter-protein cross-linking is promoted by chaperone-client complexes of alpha-crystallin: Implications for lens aging and presbyopia.
Title: Glycation-mediated inter-protein cross-linking is promoted by chaperone-client complexes of α-crystallin: Implications for lens aging and presbyopia.
Human crystallin alpha A contains two cysteines, which can form an intramolecular disulfide in vivo. Oxidation in vitro requires conformational changes and oligomer dissociation. The oxidized oligomers, which are larger than reduced crystallin alpha A and destabilized against unfolding.
Title: The structure and oxidation of the eye lens chaperone αA-crystallin.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 9 multiple types MedGen: C1858679 OMIM: 604219 GeneReviews: Not available	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481482

NoName (e-PCR)
- UniSTS:490200

CRYAA_4641 (e-PCR)
- UniSTS:462844

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
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	IEA Inferred from Electronic Annotation more info
enables structural molecule activity	IDA Inferred from Direct Assay more info	PubMed
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables unfolded protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables unfolded protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in lens development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of intracellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
NOT involved_in protein refolding	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to heat	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

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 cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: alpha-crystallin A chain

Names: crystallin, alpha-1; heat shock protein beta-4; heat shock protein family B member 4; human alphaA-crystallin (CRYA1)

NCBI Reference Sequences (RefSeq)

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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

NG_009823.1 RefSeqGene

Range

4978..8775

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000394.4 → NP_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

A0A140G945, E9PHE4, P02489, Q53X53

Related

ENSP00000291554.2, ENST00000291554.6

Conserved Domains (2) summary

cd06497
Location:60 → 145

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:1 → 51

Crystallin; Alpha crystallin A chain, N terminal
NM_001363766.1 → NP_001350695.1 alpha-crystallin A chain isoform 2

Status: REVIEWED

Source sequence(s)

AP001631

Consensus CDS

CCDS86989.1

UniProtKB/TrEMBL

A0A8C8KJZ9, E7EWH7

Related

ENSP00000381200.1, ENST00000398132.2

Conserved Domains (1) summary

cl00175
Location:26 → 108

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.