Identity
HGNC
LOCATION
6p24.3
LOCUSID
ALIAS
BLOS5,HPS11,MU,MUTED
FUSION GENES
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: 63915
MIM: 607289
HGNC: 18561
Ensembl: ENSG00000188428
Variants:
dbSNP: 63915
ClinVar: 63915
TCGA: ENSG00000188428
COSMIC: BLOC1S5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188428 | ENST00000244777 | G5E931 |
| ENSG00000188428 | ENST00000397457 | Q8TDH9 |
| ENSG00000188428 | ENST00000543936 | A0A0A0MTN6 |
| ENSG00000188428 | ENST00000627748 | A0A0D9SEU2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34058075 | 2021 | A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption. | 4 |
| 34685610 | 2021 | A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. | 4 |
| 34058075 | 2021 | A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption. | 4 |
| 34685610 | 2021 | A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. | 4 |
| 32565547 | 2020 | BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. | 25 |
| 32565547 | 2020 | BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. | 25 |
| 21044367 | 2010 | An integrative method for scoring candidate genes from association studies: application to warfarin dosing. | 11 |
| 21044367 | 2010 | An integrative method for scoring candidate genes from association studies: application to warfarin dosing. | 11 |
| 17618940 | 2008 | Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. | 19 |
| 17618940 | 2008 | Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. | 19 |
Citation
Dessen P
BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60763/bloc1s5-(biogenesis-of-lysosomal-organelles-complex-1-subunit-5)
