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    CRYBB1 crystallin beta B1 [ Homo sapiens (human) ]

    Gene ID: 1414, updated on 27-Nov-2024

    Summary

    Official Symbol
    CRYBB1provided by HGNC
    Official Full Name
    crystallin beta B1provided by HGNC
    Primary source
    HGNC:HGNC:2397
    See related
    Ensembl:ENSG00000100122 MIM:600929; AllianceGenome:HGNC:2397
    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
    CATCN3; CTRCT17
    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 basic group member, undergoes extensive cleavage at its N-terminal extension during lens maturation. It is also a member of a gene cluster with beta-A4, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 1.8), spleen (RPKM 0.7) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CRYBB1 in Genome Data Viewer
    Location:
    22q12.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26599278..26618027, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (27061628..27080697, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26995242..27013991, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene tyrosylprotein sulfotransferase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26951753-26952722 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26959537-26960060 Neighboring gene hESC enhancers GRCh37_chr22:26963727-26964250 and GRCh37_chr22:26964251-26964774 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26964775-26965298 Neighboring gene microRNA 548j Neighboring gene high mobility group box 1 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18793 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr22:26975739-26976656 and GRCh37_chr22:26976657-26977573 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26985294-26985794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:27003362-27004004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13574 Neighboring gene crystallin beta A4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:27009656-27010334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27013045-27013722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27014401-27015076 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1058 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27037805-27038669 Neighboring gene Sharpr-MPRA regulatory region 8650 Neighboring gene Sharpr-MPRA regulatory region 12592 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27041123-27041688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27043802-27044604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27045408-27046209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:27057049-27058028 Neighboring gene iron-sulfur cluster assembly 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:27061097-27061597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27063956-27064539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27064540-27065122 Neighboring gene myocardial infarction associated transcript Neighboring gene MIAT neighbor

    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 17 multiple types
    MedGen: C3888124 OMIM: 611544 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    beta-crystallin B1
    Names
    beta-B1 crystallin
    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_009826.1 RefSeqGene

      Range
      5001..23750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1271

    mRNA and Protein(s)

    1. NM_001887.4NP_001878.1  beta-crystallin B1

      See identical proteins and their annotated locations for NP_001878.1

      Status: REVIEWED

      Source sequence(s)
      BM669750, U35340
      Consensus CDS
      CCDS13840.1
      UniProtKB/Swiss-Prot
      P53674
      Related
      ENSP00000497249.1, ENST00000647684.1
      Conserved Domains (1) summary
      pfam00030
      Location:150232
      Crystall; Beta/Gamma crystallin

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      26599278..26618027 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529899.4XP_011528201.1  beta-crystallin B1 isoform X1

      See identical proteins and their annotated locations for XP_011528201.1

      UniProtKB/Swiss-Prot
      P53674
      Conserved Domains (1) summary
      pfam00030
      Location:150232
      Crystall; Beta/Gamma crystallin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      27061628..27080697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325113.1XP_054181088.1  beta-crystallin B1 isoform X1

      UniProtKB/Swiss-Prot
      P53674