Gene

ap4e1

ID
ZDB-GENE-061221-3
Name
adaptor related protein complex 4 subunit epsilon 1
Symbol
ap4e1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Predicted to enable cargo adaptor activity. Predicted to be involved in receptor-mediated endocytosis. Predicted to act upstream of or within intracellular protein transport and vesicle-mediated transport. Predicted to be located in Golgi apparatus and membrane. Predicted to be part of AP-4 adaptor complex. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 51 and stuttering. Orthologous to human AP4E1 (adaptor related protein complex 4 subunit epsilon 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ap4e1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary spastic paraplegia 51 Alliance Spastic paraplegia 51, autosomal recessive 613744
stuttering Alliance Stuttering, familial persistent, 1 184450
Associated With ap4e1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
Domain IPR028269 AP-4 complex subunit epsilon-1, C-terminal
Family IPR017109 Adaptor protein complex AP-4, epsilon subunit
Homologous_superfamily IPR011989 Armadillo-like helical
Homologous_superfamily IPR016024 Armadillo-type fold
Domain Details Per Protein
Protein Length Adaptor protein complex AP-4, epsilon subunit AP-4 complex subunit epsilon-1, C-terminal Armadillo-like helical Armadillo-type fold Clathrin/coatomer adaptor, adaptin-like, N-terminal
UniProtKB:A0A0R4IQI7 1121
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations