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Cryab crystallin, alpha B [ Mus musculus (house mouse) ]

Gene ID: 12955, updated on 11-Apr-2024

Summary

Official Symbol
Cryabprovided by MGI
Official Full Name
crystallin, alpha Bprovided by MGI
Primary source
MGI:MGI:88516
See related
Ensembl:ENSMUSG00000032060 AllianceGenome:MGI:88516
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
P23; Crya2; HspB5; Crya-2
Summary
This gene encodes a member of the small heat-shock protein (HSP20) family. The encoded protein is a molecular chaperone that protects proteins against thermal denaturation and other stresses. This protein is a component of the eye lens, regulates lens differentiation and functions as a refractive element in the lens. This protein is a negative regulator of inflammation, has anti-apoptotic properties and also plays a role in the formation of muscular tissue. Mice lacking this gene exhibit worse experimental autoimmune encephalomyelitis and inflammation of the central nervous system compared to the wild type. In mouse models, this gene has a critical role in alleviating the pathology of the neurodegenerative Alexander disease. Mutations in the human gene are associated with myofibrillar myopathy 2, fatal infantile hypertonic myofibrillar myopathy, multiple types of cataract and dilated cardiomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression
Biased expression in heart adult (RPKM 661.4), lung adult (RPKM 121.2) and 8 other tissues See more
Orthologs
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Genomic context

See Cryab in Genome Data Viewer
Location:
9 A5.3; 9 27.75 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (50657251..50667936)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (50745951..50756636)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene dihydrolipoamide S-acetyltransferase Neighboring gene DIX domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_24115 Neighboring gene predicted gene, 39337 Neighboring gene predicted gene, 51674 Neighboring gene STARR-seq mESC enhancer starr_24116 Neighboring gene STARR-seq mESC enhancer starr_24117 Neighboring gene RIKEN cDNA 2310030G06 gene Neighboring gene STARR-seq mESC enhancer starr_24121 Neighboring gene heat shock protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E3828 Neighboring gene cilia and flagella associated protein 68 Neighboring gene ferredoxin-fold anticodon binding domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables amyloid-beta binding ISO
Inferred from Sequence Orthology
more info
 
enables cytoskeletal protein binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables microtubule binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables structural constituent of eye lens TAS
Traceable Author Statement
more info
PubMed 
enables structural molecule activity ISO
Inferred from Sequence Orthology
more info
 
enables unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
 
enables unfolded protein binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within apoptotic process involved in morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within camera-type eye development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within cellular response to gamma radiation ISO
Inferred from Sequence Orthology
more info
PubMed 
acts_upstream_of_or_within lens development in camera-type eye IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in microtubule polymerization or depolymerization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within muscle organ development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of amyloid fibril formation ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of apoptotic process ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of cell growth ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of intracellular transport ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of protein-containing complex assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of reactive oxygen species metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in protein folding ISO
Inferred from Sequence Orthology
more info
 
involved_in protein refolding IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein stabilization ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within regulation of programmed cell death ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in response to heat IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within response to hydrogen peroxide IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in stress-activated MAPK cascade ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within tubulin complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in I band ISO
Inferred from Sequence Orthology
more info
 
located_in M band ISO
Inferred from Sequence Orthology
more info
 
located_in Z disc IDA
Inferred from Direct Assay
more info
PubMed 
located_in actin filament bundle ISO
Inferred from Sequence Orthology
more info
 
located_in axon ISO
Inferred from Sequence Orthology
more info
 
located_in cardiac myofibril ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in contractile muscle fiber IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in dendritic spine ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in lysosome IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in myelin sheath HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
located_in synaptic membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
alpha-crystallin B chain
Names
alpha(B)-crystallin
crystallin, alpha 2
heat shock protein CryAB
heat shock protein HspB5

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001289782.1NP_001276711.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_001276711.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AC113987, AC123614
    Consensus CDS
    CCDS23172.1
    UniProtKB/Swiss-Prot
    P23927, Q64325
    UniProtKB/TrEMBL
    Q52L78
    Related
    ENSMUSP00000149803.2, ENSMUST00000217475.2
    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
  2. NM_001289784.1NP_001276713.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_001276713.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AC123614
    Consensus CDS
    CCDS23172.1
    UniProtKB/Swiss-Prot
    P23927, Q64325
    UniProtKB/TrEMBL
    Q52L78
    Related
    ENSMUSP00000150669.2, ENSMUST00000216755.2
    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_001289785.1NP_001276714.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_001276714.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AC123614, AK146556
    Consensus CDS
    CCDS23172.1
    UniProtKB/Swiss-Prot
    P23927, Q64325
    UniProtKB/TrEMBL
    Q52L78
    Related
    ENSMUSP00000149759.2, ENSMUST00000214962.2
    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
  4. NM_009964.3NP_034094.1  alpha-crystallin B chain

    See identical proteins and their annotated locations for NP_034094.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 through 4 encode the same protein.
    Source sequence(s)
    AC123614, AK168999
    Consensus CDS
    CCDS23172.1
    UniProtKB/Swiss-Prot
    P23927, Q64325
    UniProtKB/TrEMBL
    Q52L78
    Related
    ENSMUSP00000034562.8, ENSMUST00000034562.9
    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_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    50657251..50667936
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030244036.1XP_030099896.1  alpha-crystallin B chain isoform X1

    UniProtKB/Swiss-Prot
    P23927, Q64325
    UniProtKB/TrEMBL
    Q52L78
    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. XM_036154592.1XP_036010485.1  alpha-crystallin B chain isoform X1

    UniProtKB/Swiss-Prot
    P23927, Q64325
    UniProtKB/TrEMBL
    Q52L78
    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