BLOC1S1

Chr 12

biogenesis of lysosomal organelles complex 1 subunit 1

Also known as: BLOS1, BORCS1, GCN5L1, MICoA, RT14

NCBI Gene: 2647ENSG00000135441UniProt: P78537OMIM: 601444

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
neurodevelopmental disorder · ARModerateconsider for supplementary testing
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.071
Z-score 1.65
OE 0.37 (0.17–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.03Z-score
OE missense 1.01 (0.85–1.21)
86 obs / 85.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.37 (0.17–0.96)
0≤0.351.4
Missense OE?1.01 (0.85–1.21)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 3 / 8.0Missense obs/exp: 86 / 85.1Syn Z: -0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BLOC1S1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients