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: 388552
MIM: 609762
HGNC: 20914
Ensembl: ENSG00000189114
Variants:
dbSNP: 388552
ClinVar: 388552
TCGA: ENSG00000189114
COSMIC: BLOC1S3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000189114 | ENST00000433642 | Q6QNY0 |
| ENSG00000189114 | ENST00000587722 | Q6QNY0 |
| ENSG00000189114 | ENST00000592910 | K7EN58 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32687635 | 2021 | Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome. | 3 |
| 32687635 | 2021 | Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome. | 3 |
| 30387913 | 2019 | Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. | 5 |
| 30387913 | 2019 | Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome. | 5 |
| 20460622 | 2010 | Genome-wide analysis of genetic loci associated with Alzheimer disease. | 594 |
| 20460622 | 2010 | Genome-wide analysis of genetic loci associated with Alzheimer disease. | 594 |
| 16385460 | 2006 | A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). | 55 |
| 16385460 | 2006 | A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). | 55 |
Citation
Dessen P
BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60762/bloc1s3-(biogenesis-of-lysosomal-organelles-complex-1-subunit-3)
