AP4B1

Chr 1p13.2

adaptor related protein complex 4 subunit beta 1

Aliases:: BETA-4
MANE:: ENST00000369569.6

OMIM: 607245 ↗NCBI: 10717 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

AP4B1 · Q9Y6B7

v62025-08-01

Predicted Aligned Error matrix for AP4B1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.3/ 100

Confident

739 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)26%
Low(50–70)4%
Very low(< 50)7%

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
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

+2 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

Severe intellectual disability and progressive spastic paraplegia
0.79
Spastic paraplegia
0.75
hereditary disease
0.52
AP-4 deficiency syndrome
0.40
Inherited congenital spastic tetraplegia
0.37
spastic quadriplegic cerebral palsy
0.37
hereditary spastic paraplegia
0.34
Abnormality of the nervous system
0.34
Abnormal brain morphology
0.33
cutaneous melanoma
0.24

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

Protein function (UniProt)

AP-4 complex subunit beta-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)