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    Cryba1 crystallin, beta A1 [ Mus musculus (house mouse) ]

    Gene ID: 12957, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Cryba1provided by MGI
    Official Full Name
    crystallin, beta A1provided by MGI
    Primary source
    MGI:MGI:88518
    See related
    Ensembl:ENSMUSG00000000724 AllianceGenome:MGI:88518
    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
    Cryb; BA3/A1
    Summary
    Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, encodes two proteins (crystallin, beta A3 and crystallin, beta A1) from a single mRNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    human all
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    Genomic context

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    Location:
    11 B5; 11 46.74 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (77609440..77616119, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (77718614..77725293, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_30061 Neighboring gene predicted gene, 23132 Neighboring gene STARR-seq mESC enhancer starr_30062 Neighboring gene STARR-positive B cell enhancer ABC_E10692 Neighboring gene STARR-seq mESC enhancer starr_30063 Neighboring gene nuclear FMR1 interacting protein 2 Neighboring gene STARR-seq mESC enhancer starr_30065 Neighboring gene 60S ribosomal protein L15 pseudogene Neighboring gene STARR-seq mESC enhancer starr_30066 Neighboring gene myosin XVIIIA Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:77597331-77597440 Neighboring gene STARR-seq mESC enhancer starr_30068 Neighboring gene predicted gene 10277

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Lens-specific βA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization. Joseph R, et al. PLoS One, 2023. PMID 36989286, Free PMC Article
    2. A Role for βA3/A1-Crystallin in Type 2 EMT of RPE Cells Occurring in Dry Age-Related Macular Degeneration. Ghosh S, et al. Invest Ophthalmol Vis Sci, 2018 Mar 20. PMID 30098172, Free PMC Article
    3. βA3/A1-crystallin: more than a lens protein. Zigler JS Jr, et al. Prog Retin Eye Res, 2015 Jan. PMID 25461968, Free PMC Article
    4. βA3/A1-crystallin is required for proper astrocyte template formation and vascular remodeling in the retina. Sinha D, et al. Transgenic Res, 2012 Oct. PMID 22427112, Free PMC Article
    5. Evolution and diversity of the crystallins. Nucleotide sequence of a beta-crystallin mRNA from the mouse lens. Inana G, et al. J Biol Chem, 1982 Aug 10. PMID 6896514

    See all (74) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lens-specific betaA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization.
      Title: Lens-specific βA3/A1-conditional knockout mice: Phenotypic characteristics and calpain activation causing protein degradation and insolubilization.
    2. betaA3/A1-crystallin regulates apical polarity and EGFR endocytosis in retinal pigmented epithelial cells.
      Title: βA3/A1-crystallin regulates apical polarity and EGFR endocytosis in retinal pigmented epithelial cells.
    3. betaA1-crystallin regulates glucose metabolism and mitochondrial function in mouse retinal astrocytes by modulating PTP1B activity.
      Title: βA1-crystallin regulates glucose metabolism and mitochondrial function in mouse retinal astrocytes by modulating PTP1B activity.
    4. CRYbetaA3/A1-crystallin has a role in preventing nuclear cataract impaired lysosomal cargo clearance and calpain activation
      Title: CRYβA3/A1-Crystallin Knockout Develops Nuclear Cataract and Causes Impaired Lysosomal Cargo Clearance and Calpain Activation.
    5. Data suggest a mechanism by which betaA3/A1-crystallin regulates lysosomal function by modulating the activity of V-ATPase.
      Title: Modulation of V-ATPase by βA3/A1-Crystallin in Retinal Pigment Epithelial Cells.
    6. Data show that betaA3/A1-crystallin affects the signal transducer and activator of transcription 3 (STAT3) activation in optic nerve astrocytes.
      Title: βA3/A1-crystallin is a critical mediator of STAT3 signaling in optic nerve astrocytes.
    7. loss of CRYBA1 causes lysosomal dysregulation leading to the impairment of both autophagy and phagocytosis
      Title: Lysosomal-mediated waste clearance in retinal pigment epithelial cells is regulated by CRYBA1/βA3/A1-crystallin via V-ATPase-MTORC1 signaling.
    8. p53 can regulate lens differentiation by controlling expression of the differentiation genes coding for the lens crystallins.
      Title: p53 directly regulates αA- and βA3/A1-crystallin genes to modulate lens differentiation.
    9. The thermodynamic consequences of the loss of beta A3-crystallin terminal extensions by in vivo proteolytic processing could increase their tendency to associate and so promote the formation of higher order associates in the aging and cataractous lens.
      Title: Energetics of domain-domain interactions and entropy driven association of beta-crystallins.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC130310

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of eye lens IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of eye lens TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lens development in camera-type eye IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of ERK1 and ERK2 cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of TOR signaling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cytokine production ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in phagocytosis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of anoikis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    beta-crystallin A1
    Names
    beta-A1-crystallin
    beta-A3/A1-crystallin

    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.

    mRNA and Protein(s)

    1. NM_001313933.1 → NP_001300862.1  beta-crystallin A1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate internal exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AJ239052, CK628527, CN539082
      UniProtKB/TrEMBL
      Q9QXC6
      Conserved Domains (1) summary
      smart00247
      Location:32 → 72
      XTALbg; Beta/gamma crystallins

    2. NM_009965.3 → NP_034095.1  beta-crystallin A1 isoform 1

      See identical proteins and their annotated locations for NP_034095.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ239052, CN539082
      Consensus CDS
      CCDS25084.1
      UniProtKB/Swiss-Prot
      P02525
      UniProtKB/TrEMBL
      Q9QXC6
      Related
      ENSMUSP00000077693.5, ENSMUST00000078623.5
      Conserved Domains (2) summary
      smart00247
      Location:125 → 213
      XTALbg; Beta/gamma crystallins
      pfam00030
      Location:32 → 116
      Crystall; Beta/Gamma crystallin

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      77609440..77616119 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02525.2 GenPept UniProtKB/Swiss-Prot:P02525

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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