BLOC1S5

Chr 6p24.3

biogenesis of lysosomal organelles complex 1 subunit 5

Aliases:: MU, dJ303A1.3
MANE:: ENST00000397457.7

OMIM: 607289 ↗NCBI: 63915 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BLOC1S5 · Q8TDH9

v62025-08-01

Predicted Aligned Error matrix for BLOC1S5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.3/ 100

Confident

187 residues

Confidence breakdown

Very high(≥ 90)67%
Confident(70–90)15%
Low(50–70)7%
Very low(< 50)11%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
Unknown

Disease associations (Open Targets)

Hermansky-Pudlak syndrome 11
0.65
Hermansky-Pudlak syndrome
0.46
lysosomal storage disease
0.45
Alzheimer disease
0.45
Parkinson disease
0.45
neurodegenerative disease
0.45
multiple sclerosis
0.45
Hermansky-Pudlak syndrome type 7
0.38
hereditary disease
0.19
autosomal dominant macrothrombocytopenia
0.07

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

Protein function (UniProt)

Biogenesis of lysosome-related organelles complex 1 subunit 5

Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:32565547). In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking