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2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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BLOC1S4
biogenesis of lysosomal organelles complex 1 subunit 4
Chromosome 4 · 4p16.1
NCBI Gene: 55330Ensembl: ENSG00000186222.5HGNC: HGNC:24206UniProt: Q9NUP1
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
BLOC-1 complexprotein bindingneuron projection developmentanterograde synaptic vesicle transportHermansky-Pudlak syndromeGriscelli diseaseHermansky-Pudlak syndrome without pulmonary fibrosisGlanzmann thrombasthenia 1
✦AI Summary

Based on limited published evidence, BLOC1S4 is a component of the BLOC-1 complex required for biogenesis of lysosome-related organelles including melanosomes and platelet dense granules. It functions in protein trafficking and vesicle targeting in concert with the AP-3 complex, directing membrane cargo into vesicles for neuronal delivery 1. BLOC1S4 participates in anterograde axonal and synaptic vesicle transport, neurite extension, and melanosome organization. Disruption of BLOC-1-mediated protein trafficking pathways can modulate melanoma chemotherapy sensitivity by altering melanosome formation and drug sequestration 2.

Sources cited
1
Established BLOC-1 as a complex involved in lysosome-related organelle biogenesis and identified BLOC1S4 (cappuccino) as a novel BLOC-1 component essential for complex assembly
PMID: 12576321
2
Demonstrated that modulating BLOC-1-mediated protein trafficking affects melanosome formation and melanoma chemotherapy sensitivity
PMID: 22203954
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Hermansky-Pudlak syndromeOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
Hermansky-Pudlak syndrome without pulmonary fibrosisOpen Targets
0.04Suggestive
Glanzmann thrombasthenia 1Open Targets
0.04Suggestive
MYH9-related diseaseOpen Targets
0.04Suggestive
Hermansky-Pudlak syndrome 9Open Targets
0.04Suggestive
Hermansky-Pudlak syndrome type 9Open Targets
0.04Suggestive
type 1 diabetes mellitusOpen Targets
0.04Suggestive
Hermansky-Pudlak syndrome 7Open Targets
0.04Suggestive
Hermansky-Pudlak syndrome type 7Open Targets
0.04Suggestive
Hermansky-Pudlak syndrome 11Open Targets
0.04Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
Hermansky-Pudlak syndrome 3Open Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.03Suggestive
Griscelli syndrome type 1Open Targets
0.03Suggestive
thrombocytopenia 7Open Targets
0.03Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.03Suggestive
Griscelli disease type 3Open Targets
0.03Suggestive
Griscelli syndrome type 3Open Targets
0.03Suggestive
Chédiak-Higashi syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HPS6Protein interaction100%HPS3Protein interaction100%HPS4Protein interaction99%TXNDC5Protein interaction82%HPS1Protein interaction81%HPS5Protein interaction81%
Tissue Expression6 tissues
Ovary
100%
Liver
85%
Bone Marrow
68%
Lung
61%
Heart
46%
Brain
43%
Gene Interaction Network
Click a node to explore
BLOC1S4HPS6HPS3HPS4TXNDC5HPS1HPS5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NUP1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.95LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF1.78 [0.71–1.95]
RankingsWhere BLOC1S4 stands among ~20K protein-coding genes
  • #13,840of 20,598
    Most Researched21
  • #17,636of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedBLOC1S4
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Targeting protein-trafficking pathways alters melanoma treatment sensitivity.
PMID: 22203954
Proc Natl Acad Sci U S A · 2012
1.00
2
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
PMID: 12576321
Blood · 2003
0.50