CRYAB crystallin alpha B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRYABprovided by HGNC
Official Full Name: crystallin alpha Bprovided by HGNC
Primary source: HGNC:HGNC:2389
See related: Ensembl:ENSG00000109846 MIM:123590; AllianceGenome:HGNC:2389
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: MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101
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. 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. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]
Expression: Biased expression in heart (RPKM 784.6), brain (RPKM 268.6) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q23.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (111908564..111923740, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (111918808..111933984, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (111779288..111794464, complement)

Chromosome 11 - NC_000011.10 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Insights into the dual nature of alphaB-crystallin chaperone activity from the p.P39L mutant at the N-terminal region.
Title: Insights into the dual nature of αB-crystallin chaperone activity from the p.P39L mutant at the N-terminal region.
CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.
Title: CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy.
Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Title: Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.
Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human alphaB-crystallin.
Title: Understanding the structural and functional changes and biochemical pathomechanism of the cardiomyopathy-associated p.R123W mutation in human αB-crystallin.
Single cell sequencing revealed the mechanism of CRYAB in glioma and its diagnostic and prognostic value.
Title: Single cell sequencing revealed the mechanism of CRYAB in glioma and its diagnostic and prognostic value.
HspB5 Chaperone Structure and Activity Are Modulated by Chemical-Scale Interactions in the ACD Dimer Interface.
Title: HspB5 Chaperone Structure and Activity Are Modulated by Chemical-Scale Interactions in the ACD Dimer Interface.
Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Title: Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts.
Desmin and its molecular chaperone, the alphaB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Title: Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Mature human induced pluripotent stem cell-derived cardiomyocytes promote angiogenesis through alpha-B crystallin.
Title: Mature human induced pluripotent stem cell-derived cardiomyocytes promote angiogenesis through alpha-B crystallin.
Investigating the role of double mutations R12C/P20R, and R12C/R69C on structure, chaperone-like activity, and amyloidogenic properties of human alphaB-crystallin.
Title: Investigating the role of double mutations R12C/P20R, and R12C/R69C on structure, chaperone-like activity, and amyloidogenic properties of human αB-crystallin.

Submit: New GeneRIF Correction See all GeneRIFs (288)

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 16 multiple types MedGen: C3808377 OMIM: 613763 GeneReviews: Not available	Compare labs
Dilated cardiomyopathy 1II MedGen: C3554649 OMIM: 615184 GeneReviews: Not available	Compare labs
Fatal infantile hypertonic myofibrillar myopathy MedGen: C5190691 OMIM: 613869 GeneReviews: Not available	Compare labs
Myofibrillar myopathy 2 MedGen: C1837317 OMIM: 608810 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of crystallin, alpha B (CRYAB) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat peptide enhances entry of alpha B crystallin into lens cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2244E (e-PCR)
- UniSTS:32037

GDB:197835 (e-PCR)
- UniSTS:155957

D11S3407 (e-PCR)
- UniSTS:152648

CRYA2 (e-PCR)
- UniSTS:43082

PMC123035P1 (e-PCR)
- UniSTS:270427

SHGC-31520 (e-PCR)
- UniSTS:12481

RH17897 (e-PCR)
- UniSTS:18881

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amyloid-beta binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex 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	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process involved in morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to gamma radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in microtubule polymerization or depolymerization	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
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 cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of intracellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to heat	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in stress-activated MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in tubulin complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in M band	IEA Inferred from Electronic Annotation more info
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in actin filament bundle	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
located_in cardiac myofibril	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement 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
located_in perikaryon	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: alpha-crystallin B chain

Names: epididymis secretory protein Li 101; heat shock protein beta-5; heat-shock 20 kD like-protein; renal carcinoma antigen NY-REN-27; rosenthal fiber component

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_009824.3 RefSeqGene

Range

15562..20159

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_407

mRNA and Protein(s)

NM_001289807.1 → NP_001276736.1 alpha-crystallin B chain isoform 1

See identical proteins and their annotated locations for NP_001276736.1

Status: REVIEWED

Source sequence(s)

BC007008, BF339748, BI759672, BM721803, DB506606

Consensus CDS

CCDS8351.1

UniProtKB/Swiss-Prot

B0YIX0, O43416, P02511, Q9UC37, Q9UC38, Q9UC39, Q9UC40, Q9UC41

UniProtKB/TrEMBL

C3VMY8, V9HW27

Related

ENSP00000483554.1, ENST00000616970.5

Conserved Domains (2) summary

cd06498
Location:67 → 150

ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...

pfam00525
Location:1 → 52

Crystallin; Alpha crystallin A chain, N terminal
NM_001289808.2 → NP_001276737.1 alpha-crystallin B chain isoform 1

See identical proteins and their annotated locations for NP_001276737.1

Status: REVIEWED

Source sequence(s)

AP000907, BC007008, BE076509, BF339748, BM721803

Consensus CDS

CCDS8351.1

UniProtKB/Swiss-Prot

B0YIX0, O43416, P02511, Q9UC37, Q9UC38, Q9UC39, Q9UC40, Q9UC41

UniProtKB/TrEMBL

C3VMY8, V9HW27

Related

ENSP00000499082.1, ENST00000650687.2

Conserved Domains (2) summary

cd06498
Location:67 → 150

ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...

pfam00525
Location:1 → 52

Crystallin; Alpha crystallin A chain, N terminal
NM_001330379.1 → NP_001317308.1 alpha-crystallin B chain isoform 2

Status: REVIEWED

Source sequence(s)

AP000907, BF339748, BQ437433

Consensus CDS

CCDS81626.1

UniProtKB/TrEMBL

A0A024R3B9, E9PNH7

Related

ENSP00000435046.1, ENST00000533280.6

Conserved Domains (1) summary

cl00175
Location:1 → 83

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.
NM_001368245.1 → NP_001355174.1 alpha-crystallin B chain isoform 1

Status: REVIEWED

Source sequence(s)

AP000907

Consensus CDS

CCDS8351.1

UniProtKB/Swiss-Prot

B0YIX0, O43416, P02511, Q9UC37, Q9UC38, Q9UC39, Q9UC40, Q9UC41

UniProtKB/TrEMBL

C3VMY8, V9HW27

Related

ENSP00000437149.1, ENST00000527950.5

Conserved Domains (2) summary

cd06498
Location:67 → 150

ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...

pfam00525
Location:1 → 52

Crystallin; Alpha crystallin A chain, N terminal
NM_001368246.1 → NP_001355175.1 alpha-crystallin B chain isoform 2

Status: REVIEWED

Source sequence(s)

AP000907, EB386544

Consensus CDS

CCDS81626.1

UniProtKB/TrEMBL

A0A024R3B9, E9PNH7

Related

ENSP00000435411.1, ENST00000525823.1
NM_001885.3 → NP_001876.1 alpha-crystallin B chain isoform 1

See identical proteins and their annotated locations for NP_001876.1

Status: REVIEWED

Source sequence(s)

AP000907, BC007008, BF339748, BM721803

Consensus CDS

CCDS8351.1

UniProtKB/Swiss-Prot

B0YIX0, O43416, P02511, Q9UC37, Q9UC38, Q9UC39, Q9UC40, Q9UC41

UniProtKB/TrEMBL

C3VMY8, V9HW27

Related

ENSP00000436089.2, ENST00000527899.6

Conserved Domains (2) summary

cd06498
Location:67 → 150

ACD_alphaB-crystallin_HspB5; Alpha-crystallin domain found in the small heat shock protein (sHsp) alphaB-crystallin (HspB5, 20kDa). sHsps are molecular chaperones that suppress protein aggregation and protect against cell stress, and are generally active as large oligomers ...

pfam00525
Location:1 → 52

Crystallin; Alpha crystallin A chain, N terminal