AP5M1

Chr 14q22.3

adaptor related protein complex 5 subunit mu 1

Aliases:: FLJ10813, MuD, mu5
MANE:: ENST00000261558.8

OMIM: 614368 ↗NCBI: 55745 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

AP5M1 · Q9H0R1

v62025-08-01

Predicted Aligned Error matrix for AP5M1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.9/ 100

Confident

490 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)29%
Low(50–70)9%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.54
placenta praevia
0.19
injury
0.19
thyroid cancer
0.13
glioblastoma
0.08
cancer
0.08
neoplasm
0.05
gastritis
0.04
cutaneous mastocytosis
0.04
neonatal intrahepatic cholestasis due to citrin deficiency
0.03

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

Protein function (UniProt)

AP-5 complex subunit mu-1

As part of AP-5, a probable fifth adaptor protein complex it may be involved in endosomal transport. According to PubMed:18395520, it may play a role in cell death