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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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BLOC1S5
biogenesis of lysosomal organelles complex 1 subunit 5
Chromosome 6 Β· 6p24.3
NCBI Gene: 63915Ensembl: ENSG00000188428.20HGNC: HGNC:18561UniProt: A0A0A0MTN6
37PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingendosome to melanosome transportpositive regulation of pigment cell differentiationtransport vesicleHermansky-Pudlak syndrome 11Hermansky-Pudlak syndromeAlzheimer diseaseParkinson disease
✦AI Summary

BLOC1S5 encodes the Muted subunit of the BLOC-1 (biogenesis of lysosomal organelles complex 1), a critical component required for biogenesis and trafficking of lysosome-related organelles (LROs) including melanosomes and platelet dense granules 1. As part of the BLOC-1 complex, BLOC1S5 functions in concert with the AP-3 complex to target membrane proteins into vesicles for delivery to neuronal terminals and to facilitate neurite extension through interactions with SNARE proteins 1. The protein plays essential roles in melanosomal biogenesis and anterograde axonal transport. Pathogenic variants in BLOC1S5 cause Hermansky-Pudlak syndrome type 11 (HPS-11), characterized by oculocutaneous albinism, bleeding diathesis, platelet aggregation defects, and dramatically reduced platelet dense granules 123. Disease-causing mutations impair BLOC-1 complex assembly and function 1. Notably, BLOC1S5 loss-of-function produces distinct neurobiological phenotypes compared to other BLOC-1 subunit mutations, affecting synaptic composition and NMDA receptor expression differently 4. Beyond HPS-11, BLOC1S5 expression is significantly upregulated following hydroxychloroquine treatment in melanocytes, suggesting therapeutic potential for pigmentation disorders 5. BLOC1S5 has also been identified as a biomarker in cervical pathology and ovarian cancer progression 67.

Sources cited
1
BLOC1S5 is a subunit of BLOC-1 complex required for biogenesis of lysosome-related organelles and causes HPS-11 when mutated
PMID: 32565547
2
Pathogenic variants in BLOC1S5 cause HPS-11 with oculocutaneous albinism and platelet Ξ΄-granule secretion defects
PMID: 34685610
3
BLOC1S5 mutations cause HPS-11 with oculocutaneous albinism and mild bleeding diathesis; bloc1s5 knockdown in zebrafish produces retinal hypopigmentation and thrombocyte loss
PMID: 34058075
4
BLOC1S5 mutations differentially affect synaptic composition and NMDA receptor expression compared to other BLOC-1 subunit mutations
PMID: 24713699
5
BLOC1S5 expression is significantly upregulated after hydroxychloroquine treatment in melanocytes, indicating upregulated melanosomal biogenesis
PMID: 35411132
6
BLOC1S5 is part of a biomarker panel that can distinguish chronic HR-HPV lesions from cleared lesions
PMID: 34885095
7
BLOC1S5 is associated with favorable clinical outcomes in advanced epithelial ovarian cancer
PMID: 41131133
Disease Associationsβ“˜21
Hermansky-Pudlak syndrome 11Open Targets
0.65Moderate
Hermansky-Pudlak syndromeOpen Targets
0.46Moderate
Alzheimer diseaseOpen Targets
0.45Moderate
Parkinson diseaseOpen Targets
0.45Moderate
lysosomal storage diseaseOpen Targets
0.45Moderate
multiple sclerosisOpen Targets
0.45Moderate
neurodegenerative diseaseOpen Targets
0.45Moderate
Hermansky-Pudlak syndrome type 7Open Targets
0.38Weak
genetic disorderOpen Targets
0.19Weak
atrioventricular blockOpen Targets
0.08Suggestive
response to antihypertensive drugOpen Targets
0.08Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.07Suggestive
Griscelli syndrome type 3Open Targets
0.07Suggestive
Glanzmann thrombasthenia 1Open Targets
0.06Suggestive
Tietz syndromeOpen Targets
0.06Suggestive
oculocutaneous albinism type 3Open Targets
0.06Suggestive
thrombocytopenia 7Open Targets
0.06Suggestive
bleeding disorder, platelet-type, 24Open Targets
0.06Suggestive
Bernard-Soulier syndromeOpen Targets
0.06Suggestive
Hermansky-Pudlak syndrome 11UniProt
Pathogenic Variants5
NM_201280.3(BLOC1S5):c.2T>G (p.Met1Arg)Pathogenic
Hermansky-Pudlak syndrome 11
β˜…β˜†β˜†β˜†2024β†’ Residue 1
NM_201280.3(BLOC1S5):c.326-2A>CLikely pathogenic
BLOC1S5-related disorder
β˜…β˜†β˜†β˜†2023
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)Likely pathogenic
Hermansky-Pudlak syndrome 11
β˜…β˜†β˜†β˜†2022β†’ Residue 7
NM_201280.3(BLOC1S5):c.154del (p.Val52fs)Likely pathogenic
Hermansky-Pudlak syndrome 11
β˜…β˜†β˜†β˜†2022β†’ Residue 52
NM_201280.3(BLOC1S5):c.345del (p.Val116fs)Pathogenic
Hermansky-Pudlak syndrome 11|Hermansky-Pudlak syndrome
β˜†β˜†β˜†β˜†2021β†’ Residue 116
View on ClinVar β†—
Related Genes
HPS6Protein interaction100%HPS3Protein interaction100%BCAS4Protein interaction100%HPS4Protein interaction99%HPS1Protein interaction88%HPS5Protein interaction88%
Tissue Expression6 tissues
Brain
100%
Liver
77%
Heart
75%
Ovary
56%
Bone Marrow
45%
Lung
44%
Gene Interaction Network
Click a node to explore
BLOC1S5HPS6HPS3BCAS4HPS4HPS1HPS5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8TDH9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.63LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.16 [0.84–1.63]
RankingsWhere BLOC1S5 stands among ~20K protein-coding genes
  • #10,593of 20,598
    Most Researched37
  • #3,606of 5,498
    Most Pathogenic Variants5
  • #15,772of 17,882
    Most Constrained (LOEUF)1.63
Genes detectedBLOC1S5
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301464
1.00
2
A Novel Likely Pathogenic Variant in the
PMID: 34685610
Cells Β· 2021
0.90
3
A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.
PMID: 34058075
Pigment Cell Melanoma Res Β· 2021
0.80
4
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
PMID: 32565547
Genet Med Β· 2020
0.70
5
Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes.
PMID: 24713699
J Biol Chem Β· 2014
0.60