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CRYBA1 crystallin beta A1 [ Homo sapiens (human) ]

Gene ID: 1411, updated on 18-Aug-2020

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
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

Genomic context

See CRYBA1 in Genome Data Viewer
Location:
17q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (29246859..29254494)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (27573875..27581512)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene gap junction protein alpha 4 pseudogene Neighboring gene twinfilin 1 pseudogene 1 Neighboring gene nuclear FMR1 interacting protein 2 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, congenital zonular, with sutural opacities
MedGen: C1833229 OMIM: 600881 GeneReviews: Not available
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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of eye lens IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lens development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of ERK1 and ERK2 cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TOR signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cytokine production IEA
Inferred from Electronic Annotation
more info
 
negative regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein kinase B signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of anoikis IEA
Inferred from Electronic Annotation
more info
 
visual perception IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
visual perception NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
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
truncated beta crystallin A3/A1 chain
truncated beta-crystallin A3

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_008037.1 RefSeqGene

    Range
    5001..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
    Related
    ENSP00000225387.3, ENST00000225387.7
    Conserved Domains (1) summary
    pfam00030
    Location:32116
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017024198.1XP_016879687.1  beta-crystallin A3 isoform X1

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