HPS5 Gene - Hermansky-Pudlak Syndrome 5
Biogenesis of lysosome-related organelles complex 2 subunit 2
Gene Information Card
| Symbol | HPS5 |
|---|---|
| Full Name | HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 11234 ncbi.nlm.nih.gov/gene/11234 |
| Ensembl ID | ENSG00000110756 |
| UniProt ID | Q9UPZ3 |
| OMIM ID | 607521 |
| HGNC ID | 17022 |
| Aliases | BLOC2S2, RU2, AIBP63 |
Description
The HPS5 gene encodes a protein that is a component of the biogenesis of lysosome-related organelles complex 2 (BLOC-2). This complex is essential for the formation and trafficking of lysosome-related organelles such as melanosomes, platelet dense granules, and lamellar bodies. Mutations in HPS5 cause Hermansky-Pudlak syndrome type 5, characterized by oculocutaneous albinism, bleeding diathesis, and sometimes pulmonary fibrosis or granulomatous colitis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 5 (HPS5) | Loss-of-function mutations in HPS5 disrupt BLOC-2 assembly, impairing melanosome and platelet dense granule biogenesis. | OMIM #614074; ClinVar pathogenic variants |
| Oculocutaneous albinism (syndromic) | Defective melanosome maturation due to BLOC-2 dysfunction leads to reduced pigmentation. | OMIM #614074; case reports |
| Bleeding disorder (platelet storage pool deficiency) | Impaired dense granule formation in platelets causes prolonged bleeding. | OMIM #614074; functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Testis | 8.9 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.208C>T (p.Gln70*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.1111delC (p.Leu371Trpfs*12) | Frameshift | <0.01% | Loss of function; premature stop codon |
| c.3050G>A (p.Arg1017Gln) | Missense | <0.01% | Likely loss of function; disrupts BLOC-2 interaction |
Mutation functional classification
Loss of Function (LOF)
Most HPS5 mutations are loss-of-function, leading to truncated or unstable protein, impairing BLOC-2 function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; HPS5-associated disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BLOC-2 complex (GO:0031083) | • melanosome organization (GO:0032438) |
| • Golgi apparatus (GO:0005794) | • secretory granule (GO:0030141) |
| • protein binding (GO:0005515) |
Pathways
• Biogenesis of lysosome-related organelles (BLOC-2 pathway)
• Melanosome biogenesis
• Platelet dense granule biogenesis
Protein Summary
The HPS5 protein (UniProt Q9UPZ3) is a 1129-amino acid cytoplasmic protein that forms part of the BLOC-2 complex together with HPS3 and HPS6. It localizes to the Golgi apparatus and endosomal membranes, facilitating the sorting of cargo to lysosome-related organelles. The protein contains predicted coiled-coil domains and is essential for melanosome maturation and platelet dense granule formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HPS5 Knockout HEK293 Cell Line | EDJ-KQ6705 | Human | 11234 | Details Get a Quote |
| HPS5 Knockout A-549 Cell Line | EDJ-KQ32438 | Human | 11234 | Details Get a Quote |
| HPS5 Knockout HCT 116 Cell Line | EDJ-KQ32439 | Human | 11234 | Details Get a Quote |
| HPS5 Knockout HeLa Cell Line | EDJ-KQ32440 | Human | 11234 | Details Get a Quote |
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