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    CRYBA1 crystallin beta A1 [ Homo sapiens (human) ]

    Gene ID: 1411, updated on 23-Nov-2023

    Summary

    Official Symbol
    CRYBA1provided by HGNC
    Official Full Name
    crystallin beta A1provided by HGNC
    Primary source
    HGNC:HGNC:2394
    See related
    Ensembl:ENSG00000108255 MIM:123610; AllianceGenome:HGNC:2394
    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
    CRYB1; CTRCT10
    Summary
    Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. 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, the latter protein is 17 aa shorter than crystallin, beta A3 and is generated by use of an alternate translation initiation site. Deletion of exons 3 and 4 causes the autosomal dominant disease 'zonular cataract with sutural opacities'. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Genomic context

    See CRYBA1 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (29246859..29254494)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (30189627..30197262)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27573877..27581512)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gap junction protein alpha 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27538979-27539479 Neighboring gene twinfilin 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8369 Neighboring gene nuclear FMR1 interacting protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27616618-27617118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:27617119-27617619 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:27620471-27621231 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11971 Neighboring gene ribosomal protein L35a pseudogene 35

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Cataract 10 multiple types
    MedGen: C1833229 OMIM: 600881 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2013-06-06)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2013-06-06)

    ClinGen Genome Curation Page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables 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
     
    Process Evidence Code Pubs
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of TOR signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phagocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of anoikis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    beta-crystallin A3
    Names
    beta crystallin A3 chain transcript CN
    beta crystallin A3 chain transcript LAM
    beta crystallin A3 chain transcript PS
    beta crystallin A3 chain transcript TC
    crystallin beta A3/A1
    crystallin, beta A3
    eye lens structural protein

    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_008037.1 RefSeqGene

      Range
      5003..12638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005208.5NP_005199.2  beta-crystallin A3

      See identical proteins and their annotated locations for NP_005199.2

      Status: REVIEWED

      Source sequence(s)
      AC005412, BC113693, BU735083
      Consensus CDS
      CCDS11249.1
      UniProtKB/Swiss-Prot
      P05813, Q13633, Q14CM9
      UniProtKB/TrEMBL
      A0A097PIJ9
      Related
      ENSP00000225387.3, ENST00000225387.8
      Conserved Domains (1) summary
      pfam00030
      Location:125213
      Crystall; Beta/Gamma crystallin

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      29246859..29254494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      30189627..30197262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)