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CRYAB crystallin alpha B [ Homo sapiens (human) ]

Gene ID: 1410, updated on 20-Jan-2025

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
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Genomic context

See CRYAB in Genome Data Viewer
Location:
11q23.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (111908564..111923740, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (111918808..111933984, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (111779288..111794464, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 68 Neighboring gene ribosomal protein L37a pseudogene 8 Neighboring gene HSPB2-C11orf52 readthrough (NMD candidate) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111784209-111784862 Neighboring gene Sharpr-MPRA regulatory region 8432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3903 Neighboring gene chromosome 11 open reading frame 52 Neighboring gene heat shock protein family B (small) member 2 Neighboring gene RNA, 5S ribosomal pseudogene 351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3904 Neighboring gene DIX domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3905 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:111848219-111848850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5528 Neighboring gene peptidylprolyl isomerase H pseudogene 1 Neighboring gene dihydrolipoamide S-acetyltransferase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables amyloid-beta binding PubMed 
enables identical protein binding PubMed 
enables metal ion binding  
enables microtubule binding  
enables protein binding PubMed 
enables protein homodimerization activity PubMed 
enables protein-containing complex binding PubMed 
enables structural constituent of eye lens  
enables structural molecule activity PubMed 
enables unfolded protein binding  
enables unfolded protein binding PubMed 
Process Evidence Code Pubs
involved_in apoptotic process involved in morphogenesis  
acts_upstream_of_or_within cellular response to gamma radiation PubMed 
involved_in lens development in camera-type eye  
involved_in microtubule polymerization or depolymerization  
involved_in muscle contraction PubMed 
involved_in muscle organ development  
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of amyloid fibril formation PubMed 
involved_in negative regulation of apoptotic process  
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of cell growth  
involved_in negative regulation of gene expression  
involved_in negative regulation of intracellular transport PubMed 
involved_in negative regulation of protein-containing complex assembly PubMed 
involved_in negative regulation of reactive oxygen species metabolic process  
involved_in protein folding PubMed 
involved_in protein refolding  
involved_in protein stabilization PubMed 
acts_upstream_of_or_within regulation of programmed cell death PubMed 
involved_in response to estradiol  
involved_in response to heat  
involved_in response to hydrogen peroxide  
involved_in response to hypoxia  
involved_in stress-activated MAPK cascade  
involved_in tubulin complex assembly  
Component Evidence Code Pubs
located_in M band  
located_in Z disc  
located_in actin filament bundle  
located_in axon  
located_in cardiac myofibril  
located_in cell surface  
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in dendritic spine  
located_in extracellular exosome PubMed 
located_in lysosome  
located_in mitochondrion  
located_in nucleoplasm  
is_active_in nucleus  
located_in nucleus PubMed 
located_in perikaryon  
part_of protein-containing complex PubMed 
located_in synaptic membrane  

General protein information

Preferred Names
alpha-crystallin B chain
Names
epididymis secretory protein Li 101
heat shock protein beta-5
heat shock protein family B member 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

  1. NG_009824.3 RefSeqGene

    Range
    15562..20159
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_407

mRNA and Protein(s)

  1. NM_001289807.1NP_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:67150
    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:152
    Crystallin; Alpha crystallin A chain, N terminal
  2. NM_001289808.2NP_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:67150
    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:152
    Crystallin; Alpha crystallin A chain, N terminal
  3. NM_001330379.1NP_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:183
    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.
  4. NM_001368245.1NP_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:67150
    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:152
    Crystallin; Alpha crystallin A chain, N terminal
  5. NM_001368246.1NP_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
  6. NM_001885.3NP_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:67150
    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:152
    Crystallin; Alpha crystallin A chain, N terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    111908564..111923740 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    111918808..111933984 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367697.1XP_054223672.1  alpha-crystallin B chain isoform X1

    UniProtKB/Swiss-Prot
    B0YIX0, O43416, P02511, Q9UC37, Q9UC38, Q9UC39, Q9UC40, Q9UC41
    UniProtKB/TrEMBL
    C3VMY8, V9HW27
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