HPS1 Chromosome 10
HPS1 biogenesis of lysosomal organelles complex 3 subunit 1
Upload your DNA to see your personal genotypes for variants in HPS1.
What This Gene Does
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]
Gene Info
Gene Group
"Biogenesis of lysosomal organelles complex 3 |MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000107521
Associated Conditions (8)
Hermansky-Pudlak syndrome 1
Hermansky-Pudlak syndrome
HPS1-related disorder
Inborn genetic diseases
Thyroid cancer
nonmedullary
1
Hermansky-Pudlak syndrome with pulmonary fibrosis
Key Variants
RS115265574
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
Health Risk
RS11592273
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
Health Risk
RS138771756
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
Health Risk
RS139061260
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, HPS1-related disorder, Hermansky-Pudlak syndrome 1
Health Risk
RS142347792
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, HPS1-related disorder
Health Risk
RS142893758
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
Health Risk
RS142934882
Conflicting classifications of pathogenicity
HPS1-related disorder, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
Health Risk
RS143323128
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Inborn genetic diseases, Hermansky-Pudlak syndrome 1
Health Risk
RS143522382
Conflicting classifications of pathogenicity
Inborn genetic diseases, HPS1-related disorder, Inborn genetic diseases
Health Risk
RS145042327
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
Health Risk
RS1450496925
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
Health Risk
RS145327298
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (211)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2538919005 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538920062 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538921531 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538930496 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538932095 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538967454 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538968028 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538986887 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538995388 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS2538995420 | Health Risk | Likely pathogenic | — |
| RS367873195 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS532348840 | Health Risk | Likely pathogenic | — |
| RS576459585 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS766080221 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS913991716 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1034078411 | Health Risk | Pathogenic | — |
| RS1185127836 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome |
| RS121908386 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1297265408 | Health Risk | Pathogenic | — |
| RS1473913549 | Health Risk | Pathogenic | — |
| RS1564847101 | Health Risk | Pathogenic | — |
| RS1591002808 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1591045080 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1591120765 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1844371653 | Health Risk | Pathogenic | — |
| RS1845000530 | Health Risk | Pathogenic | — |
| RS1845534948 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1846156925 | Health Risk | Pathogenic | — |
| RS1846922474 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1 |
| RS1938761666 | Health Risk | Pathogenic | — |
| RS2136084314 | Health Risk | Pathogenic | — |
| RS2136123555 | Health Risk | Pathogenic | — |
| RS2136154117 | Health Risk | Pathogenic | — |
| RS2136156603 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome with pulmonary fibrosis, Hermansky-Pudlak syndrome with pulmonary fibrosis |
| RS2136192884 | Health Risk | Pathogenic | — |
| RS2136212739 | Health Risk | Pathogenic | — |
| RS2136256358 | Health Risk | Pathogenic | — |
| RS2538724290 | Health Risk | Pathogenic | — |
| RS2538732612 | Health Risk | Pathogenic | — |
| RS2538734375 | Health Risk | Pathogenic | — |
| RS2538759165 | Health Risk | Pathogenic | — |
| RS2538809700 | Health Risk | Pathogenic | — |
| RS2538832752 | Health Risk | Pathogenic | — |
| RS2538833105 | Health Risk | Pathogenic | — |
| RS2538833621 | Health Risk | Pathogenic | — |
| RS2538837254 | Health Risk | Pathogenic | — |
| RS2538837574 | Health Risk | Pathogenic | — |
| RS2538837971 | Health Risk | Pathogenic | — |
| RS2538839551 | Health Risk | Pathogenic | — |
| RS2538896849 | Health Risk | Pathogenic | — |