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: 84343
MIM: 606118
HGNC: 15597
Ensembl: ENSG00000163755
Variants:
dbSNP: 84343
ClinVar: 84343
TCGA: ENSG00000163755
COSMIC: HPS3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163755 | ENST00000296051 | Q969F9 |
| ENSG00000163755 | ENST00000460120 | G5E9V4 |
| ENSG00000163755 | ENST00000460822 | H7C5G2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36672886 | 2023 | Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. | 3 |
| 36672886 | 2023 | Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. | 3 |
| 31621111 | 2020 | Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3. | 1 |
| 31621111 | 2020 | Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3. | 1 |
| 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 |
| 20562649 | 2010 | Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. | 5 |
| 20562649 | 2010 | Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. | 5 |
| 16417222 | 2006 | Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. | 26 |
| 16417222 | 2006 | Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. | 26 |
| 15632015 | 2005 | Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. | 18 |
| 16159387 | 2005 | Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. | 10 |
| 15632015 | 2005 | Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. | 18 |
| 16159387 | 2005 | Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin. | 10 |
| 15030569 | 2004 | Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. | 50 |
Citation
Dessen P
HPS3 (HPS3 biogenesis of lysosomal organelles complex 2 subunit 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64417/hps3-(hps3-biogenesis-of-lysosomal-organelles-complex-2-subunit-1)
