l(2)gd1 lethal (2) giant discs 1 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: l(2)gd1provided by FlyBase
Official Full Name: lethal (2) giant discs 1provided by FlyBase
Primary source: FLYBASE:FBgn0261983
Locus tag: Dmel_CG4713
See related: AllianceGenome:FB:FBgn0261983
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: CG4713; Dmel\CG4713; gd; l(2)gd; l(2)giant disc; l(2)SH0495; l(2)SH2 0495; lgd; Lgd; l[[2]]gd; SH495
Summary: Enables phosphatidylinositol phosphate binding activity. Involved in several processes, including female germ-line stem cell asymmetric division; imaginal disc-derived wing vein morphogenesis; and positive regulation of intralumenal vesicle formation. Located in cytoplasmic side of apical plasma membrane and endosome membrane. Is expressed in adult head and organism. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 3 and intellectual disability. Orthologous to several human genes including CC2D1A (coiled-coil and C2 domain containing 1A). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 32D3-32D4; 2-44 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2L	NT_033779.5 (11106943..11110851)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2L	NT_033779.4 (11106943..11110851)

Chromosome 2L - NT_033779.5 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural Analysis of the ESCRT-III Regulator Lethal(2) Giant Discs/Coiled-Coil and C2 Domain-Containing Protein 1 (Lgd/CC2D1).
Title: Structural Analysis of the ESCRT-III Regulator Lethal(2) Giant Discs/Coiled-Coil and C2 Domain-Containing Protein 1 (Lgd/CC2D1).
Lethal Giant Disc is a target of Cdk1 and regulates ESCRT-III localization during germline stem cell abscission.
Title: Lethal Giant Disc is a target of Cdk1 and regulates ESCRT-III localization during germline stem cell abscission.
Lethal (2) giant discs (Lgd)/CC2D1 is required for the full activity of the ESCRT machinery.
Title: Lethal (2) giant discs (Lgd)/CC2D1 is required for the full activity of the ESCRT machinery.
Unravelling of Hidden Secrets: The Tumour Suppressor Lethal (2) Giant Discs (Lgd)/CC2D1, Notch Signalling and Cancer.
Title: Unravelling of Hidden Secrets: The Tumour Suppressor Lethal (2) Giant Discs (Lgd)/CC2D1, Notch Signalling and Cancer.
Lgd regulates ESCRT activity by controlling access to the Shrub self-assembly surface.
Title: Structural Basis for Regulation of ESCRT-III Complexes by Lgd.
During oogenesis lgd loss of function causes ectopic activation of the Drosophila BMP signalling pathway.
Title: Lgd regulates the activity of the BMP/Dpp signalling pathway during Drosophila oogenesis.
lgd cells have a defect that delays degradation of transmembrane proteins, which are residents of the plasma membrane. Furthermore, our results show that the activation of Notch in lgd cells occurs in the lysosome.
Title: Activation of Notch in lgd mutant cells requires the fusion of late endosomes with the lysosome.
genetic studies indicate that the activation of Notch in ESCRT and lgd mutant cells occurs in a different manner and that the activity of Shrub and other ESCRT components are required for the activation of Notch in lgd mutant cells
Title: The tumour suppressor Lethal (2) giant discs is required for the function of the ESCRT-III component Shrub/CHMP4.

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Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol phosphate binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in compound eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosome transport via multivesicular body sorting pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in female germ-line stem cell asymmetric division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in imaginal disc-derived wing vein morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitotic cytokinesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of Notch signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of Notch signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of intralumenal vesicle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory organ development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory organ precursor cell division	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in wing disc morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic side of apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endosome membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: lethal (2) giant discs 1

Names: CG4713-PA; CG4713-PB; l(2)gd1-PA; l(2)gd1-PB; leathal giant disc; lethal (2) SH0495; lethal (2) giant discs; lethal giant discs; lethal(2) giant discs; lethal(2)giant discs 1

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

NT_033779.5 Reference assembly

Range

11106943..11110851

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001259047.2 → NP_001245976.1 lethal (2) giant discs 1, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001245976.1

Status: REVIEWED

UniProtKB/TrEMBL

M9NEZ0

Conserved Domains (2) summary

smart00685
Location:362 → 420

DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

cd08690
Location:661 → 832

C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)
NM_135644.4 → NP_609488.1 lethal (2) giant discs 1, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_609488.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q9VKJ9

Related

FBpp0079786

Conserved Domains (2) summary

smart00685
Location:362 → 420

DM14; Repeats in fly CG4713, worm Y37H9A.3 and human FLJ20241

cd08690
Location:661 → 814

C2_Freud-1; C2 domain found in 5' repressor element under dual repression binding protein-1 (Freud-1)