InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: AP4E1

Summary

InnateDB Protein

IDBP-11893.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

AP4E1

Protein Name

adaptor-related protein complex 4, epsilon 1 subunit

Synonyms

CPSQ4; SPG51;

Species

Homo sapiens

Ensembl Protein

ENSP00000261842

InnateDB Gene

IDBG-11891 (AP4E1)

Protein Structure

UniProt Annotation

Function

Subunit of novel type of clathrin- or non-clathrin- associated protein coat involved in targeting proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system.

Subcellular Localization

Golgi apparatus, trans-Golgi network. Membrane, coated pit {ECO:0000250}. Note=Associated with the trans-Golgi network. Found in soma and dendritic shafts of neuronal cells.

Disease Associations

Cerebral palsy, spastic quadriplegic 4 (CPSQ4) [MIM:613744]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication. {ECO:0000269PubMed:20972249}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	7 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005488	binding

Biological Process

GO:0006886	intracellular protein transport
GO:0016192	vesicle-mediated transport

Cellular Component

GO:0005794	Golgi apparatus
GO:0005905	coated pit
GO:0030117	membrane coat
GO:0030126	COPI vesicle coat

Protein Structure and Domains

PDB ID

InterPro

IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminal
IPR011710 Coatomer beta subunit, C-terminal
IPR016024 Armadillo-type fold
IPR017109 Adaptor protein complex AP-4, epsilon subunit

PFAM

PF01602
PF07718

PRINTS

PIRSF

PIRSF037097

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9UPM8