BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3)

2014-11-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
BLOS3,HPS8,RP

Other Information

Locus ID:

NCBI: 388552
MIM: 609762
HGNC: 20914
Ensembl: ENSG00000189114

Variants:

dbSNP: 388552
ClinVar: 388552
TCGA: ENSG00000189114
COSMIC: BLOC1S3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189114ENST00000433642Q6QNY0
ENSG00000189114ENST00000587722Q6QNY0
ENSG00000189114ENST00000592910K7EN58

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
trans-Golgi Network Vesicle BuddingREACTOMER-HSA-199992
Clathrin derived vesicle buddingREACTOMER-HSA-421837
Golgi Associated Vesicle BiogenesisREACTOMER-HSA-432722

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204606222010Genome-wide analysis of genetic loci associated with Alzheimer disease.461
163854602006A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8).0
303879132019Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome.0

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)