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l(2)efl lethal (2) essential for life [ Drosophila melanogaster (fruit fly) ]

Gene ID: 37744, updated on 2-Nov-2024

Summary

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Official Symbol
l(2)eflprovided by FlyBase
Official Full Name
lethal (2) essential for lifeprovided by FlyBase
Primary source
FLYBASE:FBgn0011296
Locus tag
Dmel_CG4533
See related
AllianceGenome:FB:FBgn0011296
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Drosophila melanogaster
Lineage
Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as
CG4533; Cryab; CryAB; dCryAB; dCRYAB; Dmel19.8; Dmel\CG4533; el(2)13-1; l(2)13-1; l(2)59Fa; l(2)Efl; L(2)efl; L(2)EFL
Summary
Predicted to enable unfolded protein binding activity. Involved in several processes, including protein refolding; response to heat; and sarcomere organization. Located in Z disc and perinuclear region of cytoplasm. Is expressed in adult head; adult heart; larval muscle cell; and larval muscle system. Used to study myofibrillar myopathy 2. Human ortholog(s) of this gene implicated in cataract 16 multiple types; cataract 9 multiple types; dilated cardiomyopathy 1II; fatal infantile hypertonic myofibrillar myopathy; and myofibrillar myopathy 2. Orthologous to several human genes including CRYAA (crystallin alpha A). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs
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Genomic context

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See l(2)efl in Genome Data Viewer
Location:
59F6-59F6; 2-104 cM
Exon count:
3
Annotation release Status Assembly Chr Location
Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (23684651..23685543, complement)
Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (19572174..19573066, complement)

Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene Phosphodiesterase 8 Neighboring gene Sulfotransferase 1 Neighboring gene Sulfotransferase 3 Neighboring gene Peptidyl-alpha-hydroxyglycine-alpha-amidating lyase 2 Neighboring gene uncharacterized protein Neighboring gene angel

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Sequence of the new Drosophila melanogaster small heat-shock-related gene, lethal(2) essential for life [l(2)efl], at locus 59F4,5. Kurzik-Dumke U, et al. Gene, 1995 Mar 10. PMID 7890160
  2. Identification of CryAB as a target of NUAK kinase activity in Drosophila muscle tissue. Zhao Z, et al. Genetics, 2023 Nov 1. PMID 37713608, Free PMC Article
  3. Overexpression of fatty-acid-β-oxidation-related genes extends the lifespan of Drosophila melanogaster. Lee SH, et al. Oxid Med Cell Longev, 2012. PMID 22997544, Free PMC Article
  4. Gene expression changes in response to aging compared to heat stress, oxidative stress and ionizing radiation in Drosophila melanogaster. Landis G, et al. Aging (Albany NY), 2012 Nov. PMID 23211361, Free PMC Article
  5. Drosophila foxo acts in males to cause sexual-dimorphism in tissue-specific p53 life span effects. Shen J, et al. Exp Gerontol, 2010 Feb. PMID 19840842, Free PMC Article

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of CryAB as a target of NUAK kinase activity in Drosophila muscle tissue.
    Title: Identification of CryAB as a target of NUAK kinase activity in Drosophila muscle tissue.
  2. Gelsolin and dCryAB act downstream of muscle identity genes and contribute to preventing muscle splitting and branching in Drosophila.
    Title: Gelsolin and dCryAB act downstream of muscle identity genes and contribute to preventing muscle splitting and branching in Drosophila.
Submit: New GeneRIF Correction

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by FlyBase

Function Evidence Code Pubs
enables unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables unfolded protein binding ISM
Inferred from Sequence Model
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone-mediated protein folding ISM
Inferred from Sequence Model
more info
 PubMed 
involved_in protein refolding IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein refolding IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of translational initiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to heat IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to heat IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sarcomere organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Z disc IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
lethal (2) essential for life
Names
CG4533-PA
CG4533-PC
l(2)efl-PA
l(2)efl-PC
lethal(2)essential for life

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

  1. NT_033778.4 Reference assembly

    Range
    23684651..23685543 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_079103.3 → NP_523827.1  lethal (2) essential for life, isoform A [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_523827.1

    Status: REVIEWED

    UniProtKB/Swiss-Prot
    P82147, Q8MLQ9
    UniProtKB/TrEMBL
    A0A0B4KEY5
    Related
    FBpp0072009
    Conserved Domains (1) summary
    cd06526
    Location:71 → 153
    metazoan_ACD; Alpha-crystallin domain (ACD) of metazoan alpha-crystallin-type small(s) heat shock proteins (Hsps). sHsps are small stress induced proteins with monomeric masses between 12 -43 kDa, whose common feature is the Alpha-crystallin domain (ACD). sHsps are ...

  2. NM_001274227.1 → NP_001261156.1  lethal (2) essential for life, isoform C [Drosophila melanogaster]

    See identical proteins and their annotated locations for NP_001261156.1

    Status: REVIEWED

    UniProtKB/Swiss-Prot
    P82147, Q8MLQ9
    UniProtKB/TrEMBL
    A0A0B4KEY5
    Conserved Domains (1) summary
    cd06526
    Location:71 → 153
    metazoan_ACD; Alpha-crystallin domain (ACD) of metazoan alpha-crystallin-type small(s) heat shock proteins (Hsps). sHsps are small stress induced proteins with monomeric masses between 12 -43 kDa, whose common feature is the Alpha-crystallin domain (ACD). sHsps are ...
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0B4KEY5 A0A0B4KEY5
P82147.1 P82147

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