BLOC1S1

Chr 12q13.2

biogenesis of lysosomal organelles complex 1 subunit 1

Aliases:: BLOS1, BORCS1
MANE:: ENST00000548925.6

OMIM: 601444 ↗NCBI: 2647 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

BLOC1S1 · P78537

v62025-08-01

Predicted Aligned Error matrix for BLOC1S1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.0/ 100

Confident

153 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)5%
Low(50–70)17%
Very low(< 50)2%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Severe global developmental delay
0.50
Severe intellectual disability
0.50
epilepsy
0.50
neurodegenerative disease
0.30
age-related macular degeneration
0.28
myopia
0.28
Hypermetropia
0.27
refractive error
0.25
retinal disorder
0.25
COVID-19
0.24

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 1

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:17182842). 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 (PubMed:17182842). The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery (PubMed:25898167). Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167)