EndoA Endophilin A [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: EndoAprovided by FlyBase
Official Full Name: Endophilin Aprovided by FlyBase
Primary source: FLYBASE:FBgn0038659
Locus tag: Dmel_CG14296
See related: AllianceGenome:FB:FBgn0038659
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: CG14296; D-endo; D-endoA; Dendo-A; Dmel\CG14296; endo; Endo; endoA
Summary: Enables phospholipid binding activity. Involved in several processes, including clathrin-dependent synaptic vesicle endocytosis; membrane bending; and plasma membrane tubulation. Located in cytosol; membrane; and type I terminal bouton. Is expressed in several structures, including adult head; ganglia; larval nervous system; motor neurons; and neuromuscular junction. Human ortholog(s) of this gene implicated in acute myeloid leukemia and high grade glioma. Orthologous to human SH3GL1 (SH3 domain containing GRB2 like 1, endophilin A2); SH3GL2 (SH3 domain containing GRB2 like 2, endophilin A1); and SH3GL3 (SH3 domain containing GRB2 like 3, endophilin A3). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 91D4-91D4; 3-65 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	3R	NT_033777.3 (18906609..18910755)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	3R	NT_033777.2 (14732331..14736477)

Chromosome 3R - NT_033777.3 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation.
Title: EndophilinA-dependent coupling between activity-induced calcium influx and synaptic autophagy is disrupted by a Parkinson-risk mutation.
EndophilinA-induced macroautophagy is activated when the kinase LRRK2 phosphorylates the EndophilinA-BAR domain and is blocked in animals where EndophilinA cannot be phosphorylated. Functionally, deregulation of the EndophilinA phosphorylation state accelerates activity-induced neurodegeneration.
Title: A LRRK2-Dependent EndophilinA Phosphoswitch Is Critical for Macroautophagy at Presynaptic Terminals.
analysis of endophilin-A N-BAR domain mutations performed in living flies
Title: A mutational analysis of the endophilin-A N-BAR domain performed in living flies.
endophilin A is essential for synaptic vesicle endocytosis, being required from the onset of budding until fission.
Title: Essential role of endophilin A in synaptic vesicle budding at the Drosophila neuromuscular junction.
At fly photoreceptor synapses Endophilin is localized to synaptic vesicles at sites of endocytosis that are glial invaginations called capitate projections; when the photoreceptor synapses lack Endophilin they are impaired in neurotransmitter release
Title: Endophilin promotes a late step in endocytosis at glial invaginations in Drosophila photoreceptor terminals.
Endophilin is required presynaptically at the neuromuscular junction, and absence of Endophilin dramatically impairs endocytosis in vivo
Title: Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.
In the absence of synaptojanin or endophilin, vesicles undergo full fusion and re-formation.
Title: A slowed classical pathway rather than kiss-and-run mediates endocytosis at synapses lacking synaptojanin and endophilin.

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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 phospholipid binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to starvation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to starvation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in clathrin-dependent synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in membrane bending	IDA Inferred from Direct Assay more info	PubMed
involved_in membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in plasma membrane tubulation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse structure or activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic vesicle endocytosis	TAS Traceable Author Statement more info	PubMed
involved_in synaptic vesicle uncoating	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
located_in type I terminal bouton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: endophilin A

Names: CG14296-PA; CG14296-PB; CG14296-PC; EndoA-PA; EndoA-PB; EndoA-PC; Endophilin-A; endophilin; endophilinA

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_033777.3 Reference assembly

Range

18906609..18910755

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001275788.1 → NP_001262717.1 endophilin A, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001262717.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q8T390, Q95V65, Q9VE25

UniProtKB/TrEMBL

B5RIU6

Conserved Domains (2) summary

cd07592
Location:25 → 246

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A

cd11803
Location:312 → 361

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
NM_138767.3 → NP_620122.2 endophilin A, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_620122.2

Status: REVIEWED

UniProtKB/Swiss-Prot

Q8T390, Q95V65, Q9VE25

UniProtKB/TrEMBL

B5RIU6

Related

FBpp0083113

Conserved Domains (2) summary

cd07592
Location:25 → 246

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A

cd11803
Location:312 → 361

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A
NM_169838.2 → NP_732383.1 endophilin A, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_732383.1

Status: REVIEWED

UniProtKB/Swiss-Prot

Q8T390, Q95V65, Q9VE25

UniProtKB/TrEMBL

B5RIU6

Related

FBpp0083112

Conserved Domains (2) summary

cd07592
Location:25 → 246

BAR_Endophilin_A; The Bin/Amphiphysin/Rvs (BAR) domain of Endophilin-A

cd11803
Location:312 → 361

SH3_Endophilin_A; Src homology 3 domain of Endophilin-A