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    CRYAB crystallin alpha B [ Homo sapiens (human) ]

    Gene ID: 1410, updated on 5-May-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CRYAB in Genome Data Viewer
    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_000011.10Genomic 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: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    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.

    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_2023_10

    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
      V9HW27