HPS3: Hermansky-Pudlak Syndrome 3 Gene
Biogenesis of lysosome-related organelles complex 2 subunit 1
Gene Information Card
| Symbol | HPS3 |
|---|---|
| Full Name | HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q24 |
| NCBI Gene ID | 83443 ncbi.nlm.nih.gov/gene/83443 |
| Ensembl ID | ENSG00000163755 |
| UniProt ID | Q969F9 |
| OMIM ID | 606118 |
| HGNC ID | 15582 |
| Aliases | BLOC2S1, HPS, MGC138207 |
Description
HPS3 encodes a protein that is a component of the biogenesis of lysosome-related organelles complex 2 (BLOC-2). BLOC-2 is required for the formation of lysosome-related organelles such as melanosomes and platelet dense granules. Mutations in HPS3 cause Hermansky-Pudlak syndrome type 3 (HPS3), an autosomal recessive disorder characterized by oculocutaneous albinism, bleeding tendency, and in some cases, pulmonary fibrosis and granulomatous colitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 3 | Loss of BLOC-2 function disrupts melanosome and platelet dense granule biogenesis | OMIM #614072; ClinVar |
| Pulmonary fibrosis (associated with HPS3) | Accumulation of ceroid lipofuscin in lung macrophages due to defective lysosome-related organelle biogenesis | PubMed; OMIM |
| Granulomatous colitis (associated with HPS3) | Defective organelle trafficking in intestinal epithelial cells and immune cells | PubMed; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | Medium |
| Spleen | 10.1 | Medium |
| Kidney | 8.5 | Medium |
| Liver | 6.2 | Low |
| Brain | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 9.7 | Moderate expression in cervical cancer cells |
| K562 | 7.3 | Moderate expression in leukemia cells |
| HepG2 | 5.1 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2004C>T (p.Arg668Ter) | Nonsense | Common in Puerto Rican patients | Premature termination, loss of BLOC-2 function |
| c.972delC (p.Pro324fs) | Frameshift | Rare | Loss of function |
| c.1180C>T (p.Arg394Trp) | Missense | Rare | Impaired BLOC-2 assembly |
Mutation functional classification
Loss of Function (LOF)
Most HPS3 mutations are loss-of-function, leading to truncated or unstable protein, disrupting BLOC-2 complex formation.
Gain of Function (GOF)
No gain-of-function mutations reported for HPS3.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BLOC-2 complex (GO:0031083) | • melanosome organization (GO:0032438) |
| • lysosome-related organelle biogenesis (GO:0035578) | • cytoplasm (GO:0005737) |
| • Golgi apparatus (GO:0005794) |
Pathways
• Hermansky-Pudlak syndrome pathway (Reactome: R-HSA-5620920)
• Lysosome-related organelle biogenesis (KEGG: hsa04142)
Protein Summary
The HPS3 protein (also known as BLOC2S1) is a 1004-amino acid cytoplasmic protein that forms part of the BLOC-2 complex together with HPS5 and HPS6. BLOC-2 functions in the trafficking of cargo from endosomes to lysosome-related organelles. Loss of HPS3 leads to defective melanosome maturation (causing albinism) and absent platelet dense granules (causing bleeding). The protein is ubiquitously expressed, with highest levels in lung and spleen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPS3 Knockout HEK293 Cell Line | EDJ-KQ10075 | Human | 84343 | Details Get a Quote |
| HPS3 Knockout A-549 Cell Line | EDJ-KQ37139 | Human | 84343 | Details Get a Quote |
| HPS3 Knockout HCT 116 Cell Line | EDJ-KQ37140 | Human | 84343 | Details Get a Quote |
| HPS3 Knockout HeLa Cell Line | EDJ-KQ37141 | Human | 84343 | Details Get a Quote |
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