Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3257
MIM: 604982
HGNC: 5163
Ensembl: ENSG00000107521
Variants:
dbSNP: 3257
ClinVar: 3257
TCGA: ENSG00000107521
COSMIC: HPS1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| RAB GEFs exchange GTP for GDP on RABs | REACTOME | R-HSA-8876198 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35328057 | 2022 | Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. | 2 |
| 35328057 | 2022 | Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. | 2 |
| 33878481 | 2021 | Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. | 2 |
| 34736469 | 2021 | Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. | 8 |
| 33878481 | 2021 | Hermansky-Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6. | 2 |
| 34736469 | 2021 | Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs. | 8 |
| 33224134 | 2020 | HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells. | 3 |
| 33224134 | 2020 | HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells. | 3 |
| 27593200 | 2016 | NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. | 15 |
| 27593200 | 2016 | NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients. | 15 |
| 23084991 | 2012 | BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. | 148 |
| 23084991 | 2012 | BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. | 148 |
| 20662851 | 2011 | Novel mutations in the HPS1 gene among Puerto Rican patients. | 8 |
| 21833017 | 2011 | Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. | 12 |
| 20662851 | 2011 | Novel mutations in the HPS1 gene among Puerto Rican patients. | 8 |
Citation
Dessen P
HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64416/hps1-(hps1-biogenesis-of-lysosomal-organelles-complex-3-subunit-1)
