aap-1 SH2 domain-containing protein [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: aap-1
Official Full Name: SH2 domain-containing protein
Primary source: WormBase:WBGene00000001
Locus tag: CELE_Y110A7A.10
See related: AllianceGenome:WB:WBGene00000001
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Enables protein kinase binding activity. Involved in dauer larval development; determination of adult lifespan; and insulin receptor signaling pathway. Part of phosphatidylinositol 3-kinase complex. Is expressed in anchor cell; intestine; and neurons. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; carcinoma (multiple); endometrial cancer (multiple); and immunodeficiency 36. Orthologous to several human genes including PIK3R2 (phosphoinositide-3-kinase regulatory subunit 2). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See aap-1 in Genome Data Viewer

Location:: chromosome: I

Exon count:: 5

Sequence:: Chromosome: I; NC_003279.8 (5107843..5110183)

Chromosome I - NC_003279.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003279.8

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AAP-1 potentiates the C. elegans signal transduction pathway, but is not required; it plays a role in nematode development
Title: Insulin receptor substrate and p55 orthologous adaptor proteins function in the Caenorhabditis elegans daf-2/insulin-like signaling pathway.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Y110A7A.k (e-PCR)
- UniSTS:323447

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in dauer larval development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in dauer larval development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of phosphatidylinositol 3-kinase complex	IDA Inferred from Direct Assay more info	PubMed
part_of phosphatidylinositol 3-kinase complex, class IA	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: SH2 domain-containing protein

NP_491522.1

Confirmed by transcript evidence

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

NC_003279.8 Reference assembly

Range

5107843..5110183

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_059121.9 → NP_491522.1 SH2 domain-containing protein [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_491522.1

Status: REVIEWED

UniProtKB/TrEMBL

G5EDP9

Conserved Domains (1) summary

cl15255
Location:12 → 121

SH2; Src homology 2 (SH2) domain