AP4E1

Chr 15q21.2

adaptor related protein complex 4 subunit epsilon 1

Aliases:: AP-4-EPSILON, SPG51
MANE:: ENST00000261842.10

OMIM: 607244 ↗NCBI: 23431 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AP4E1 · Q9UPM8

v62025-08-01

Predicted Aligned Error matrix for AP4E1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.7/ 100

Confident

1,137 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)47%
Low(50–70)4%
Very low(< 50)25%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hereditary spastic paraplegia 51
0.77
Severe intellectual disability and progressive spastic paraplegia
0.73
stuttering, familial persistent, 1
0.71
Spastic paraplegia
0.55
AP-4 deficiency syndrome
0.41
Inherited congenital spastic tetraplegia
0.37
spastic quadriplegic cerebral palsy
0.37
ALG12-congenital disorder of glycosylation
0.34
osteoarthritis
0.32
keloid
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

AP-4 complex subunit epsilon-1

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable)