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

Summary

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, Dec 2024]
Orthologs: all
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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_033778.4 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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.
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.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

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

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