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CRYBB1 crystallin beta B1 [ Homo sapiens (human) ]

Gene ID: 1414, updated on 12-Jan-2019

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
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

Genomic context

See CRYBB1 in Genome Data Viewer
Location:
22q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (26599278..26618104, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (26995362..27013991, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene tyrosylprotein sulfotransferase 2 Neighboring gene microRNA 548j Neighboring gene high mobility group box 1 pseudogene 10 Neighboring gene crystallin beta A4 Neighboring gene iron-sulfur cluster assembly 2 pseudogene 1 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Cataract, congenital nuclear, autosomal recessive 3
MedGen: C3888124 OMIM: 611544 GeneReviews: Not available
not available

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
visual perception IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-crystallin B1
Names
beta-B1 crystallin
eye lens structural protein

NCBI Reference Sequences (RefSeq)

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)

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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    26599278..26618104 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529899.3XP_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
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