ave aveugle [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: aveprovided by FlyBase
Official Full Name: aveugleprovided by FlyBase
Primary source: FLYBASE:FBgn0050476
Locus tag: Dmel_CG30476
See related: AllianceGenome:FB:FBgn0050476
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: BcDNA:RE67675; CG30476; CG30476/Ave; Dmel\CG30476; hyp; HYP
Summary: Enables scaffold protein binding activity. Involved in compound eye morphogenesis; epidermal growth factor receptor signaling pathway; and positive regulation of ERK1 and ERK2 cascade. Located in cytoplasmic side of plasma membrane and cytosol. Human ortholog(s) of this gene implicated in familial adult myoclonic epilepsy 1. Orthologous to human SAMD10 (sterile alpha motif domain containing 10) and SAMD12 (sterile alpha motif domain containing 12). [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 (14752521..14753269)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2R	NT_033778.3 (10640026..10640774)

Chromosome 2R - NT_033778.4 Genomic Context describing neighboring genes

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Cnk and its binding partner Ave serve a critical components for Alk signaling in Drosophila
Title: The scaffolding protein Cnk binds to the receptor tyrosine kinase Alk to promote visceral founder cell specification in Drosophila.
Hyphen(CG30476) regulates RAS-dependent RAF activation.
Title: A KSR/CNK complex mediated by HYP, a novel SAM domain-containing protein, regulates RAS-dependent RAF activation in Drosophila.
Aveugle(CG30476) is required for EGFR-dependent activation of Raf.
Title: The novel SAM domain protein Aveugle is required for Raf activation in the Drosophila EGF receptor signaling pathway.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

Function	Evidence Code	Pubs
enables scaffold protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in compound eye cone cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in compound eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye photoreceptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of Ras protein signal transduction	HGI more info	PubMed

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

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