Gene

appl1

ID

ZDB-GENE-081016-1

Name

adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1

Symbol

appl1 Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 11 Mapping Details/Browsers

Description

Predicted to have protein kinase B binding activity. Predicted to be involved in insulin receptor signaling pathway. Localizes to early endosome. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. Is expressed in nervous system; neural keel; neural tube; and pronephros. Orthologous to human APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from Schenck et al., 2008

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 5 figures from Schenck et al., 2008
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With appl1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
maturity-onset diabetes of the young type 14	Alliance	{Maturity-onset diabetes of the young, type 14}	616511

Associated With appl1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR004148	BAR domain
Domain	IPR006020	PTB/PI domain
Domain	IPR037929	DCC-interacting protein 13-alpha, BAR domain
Domain	IPR047236	DCC-interacting protein 13-alpha/beta, PH domain
Domain	IPR047237	DCC-interacting protein 13-alpha/beta, PTB domain
Family	IPR047181	DCC-interacting protein 13-alpha/beta
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR027267	AH/BAR domain superfamily