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CRYBA4 crystallin beta A4 [ Homo sapiens (human) ]

Gene ID: 1413, updated on 20-Dec-2019

Summary

Official Symbol
CRYBA4provided by HGNC
Official Full Name
crystallin beta A4provided by HGNC
Primary source
HGNC:HGNC:2396
See related
Ensembl:ENSG00000196431 MIM:123631
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
CYRBA4; CTRCT23; MCOPCT4
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, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See CRYBA4 in Genome Data Viewer
Location:
22q12.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (26607982..26630672)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (27017928..27026636)

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 B1 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1058 Neighboring gene iron-sulfur cluster assembly 2 pseudogene 1

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?

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
camera-type eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
lens development in camera-type eye IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
beta-crystallin A4
Names
beta crystallin A4 chain transcript PS
beta crystallin alpha 4 chain
beta-A4 crystallin
crystallin, beta polypeptide A4
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_009825.1 RefSeqGene

    Range
    5000..13706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001886.3NP_001877.1  beta-crystallin A4

    See identical proteins and their annotated locations for NP_001877.1

    Status: REVIEWED

    Source sequence(s)
    BC069404, BC096172, BF726612, BM667295, Z95115
    Consensus CDS
    CCDS13841.1
    UniProtKB/Swiss-Prot
    P53673
    UniProtKB/TrEMBL
    A0A097PIJ6
    Related
    ENSP00000346805.3, ENST00000354760.4
    Conserved Domains (2) summary
    smart00247
    Location:106194
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:1396
    Crystall; Beta/Gamma crystallin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    26607982..26630672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724140.3XP_006724203.1  beta-crystallin A4 isoform X2

    Conserved Domains (2) summary
    smart00247
    Location:111199
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:18101
    Crystall; Beta/Gamma crystallin
  2. XM_017028598.1XP_016884087.1  beta-crystallin A4 isoform X1

    UniProtKB/Swiss-Prot
    P53673
    Conserved Domains (2) summary
    smart00247
    Location:117205
    XTALbg; Beta/gamma crystallins
    pfam00030
    Location:24107
    Crystall; Beta/Gamma crystallin
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