HPS1: Biogenesis of Lysosomal Organelles Complex 3 Subunit 1
Key gene in Hermansky-Pudlak syndrome and lysosomal-related organelle biogenesis
Gene Information Card
| Symbol | HPS1 |
|---|---|
| Full Name | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 3257 ncbi.nlm.nih.gov/gene/3257 |
| Ensembl ID | ENSG00000107521 |
| UniProt ID | Q92902 |
| OMIM ID | 604982 |
| HGNC ID | 5163 |
| Aliases | BLOC3S1, HPS, HPS1A, MGC15407 |
Description
The HPS1 gene encodes a subunit of the biogenesis of lysosomal organelles complex 3 (BLOC-3), which is essential for the biogenesis of specialized lysosome-related organelles such as melanosomes and platelet dense granules. Mutations in HPS1 cause Hermansky-Pudlak syndrome type 1, characterized by oculocutaneous albinism, bleeding diathesis, and often pulmonary fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 1 (HPS1) | Loss-of-function mutations in HPS1 disrupt BLOC-3 complex assembly, impairing melanosome and platelet dense granule biogenesis. | ClinVar, OMIM |
| Hermansky-Pudlak syndrome with pulmonary fibrosis | Defective lysosomal-related organelle trafficking leads to accumulation of ceroid lipofuscin in lung tissue, promoting fibrosis. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 8.2 | Low |
| Skin | 6.5 | Low |
| Spleen | 5.1 | Low |
| Whole blood | 3.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| A549 | 6.0 | Moderate expression |
| Melanocytes | 7.8 | Highest expression among tested lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.972delC | Frameshift | Common in Puerto Rican HPS1 patients | Loss of function |
| c.1472_1473delAG | Frameshift | Rare | Loss of function |
| c.1189C>T (p.Arg397*) | Nonsense | Reported in multiple ethnicities | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Majority of HPS1 mutations are loss-of-function (frameshift, nonsense, splice-site), leading to truncated or absent protein and BLOC-3 complex deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for HPS1.
Dominant Negative (DN)
No dominant-negative mutations reported; HPS1 disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0031085 – BLOC-3 complex | • GO:0032418 – lysosome localization |
| • GO:0042470 – melanosome | • GO:0005794 – Golgi apparatus |
| • GO:0005515 – protein binding |
Pathways
• Biogenesis of lysosome-related organelles (BLOC-3 pathway)
• Melanosome biogenesis
• Platelet dense granule biogenesis
Protein Summary
HPS1 is a 700-amino-acid protein that forms the BLOC-3 complex with HPS4. This complex acts as a guanine nucleotide exchange factor (GEF) for Rab32 and Rab38, regulating vesicle trafficking to lysosome-related organelles. Loss of HPS1 function leads to defective melanosome maturation, platelet dense granule deficiency, and lysosomal dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPS1 Knockout HEK293 Cell Line | EDJ-KQ4933 | Human | 3257 | Details Get a Quote |
| HPS1 Knockout A-549 Cell Line | EDC90250 | Human | 3257 | Details Get a Quote |
| HPS1 Knockout HCT 116 Cell Line | EDJ-KQ27775 | Human | 3257 | Details Get a Quote |
| HPS1 Knockout HeLa Cell Line | EDJ-KQ27776 | Human | 3257 | Details Get a Quote |
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