BLOC1S3 gene homepage

General information
Gene symbol BLOC1S3
Gene name biogenesis of lysosomal organelles complex-1, subunit 3
Chromosome 19
Chromosomal band q13.32
Imprinted Unknown
Genomic reference NG_008372.1
Transcript reference NM_212550.3
Exon/intron information NM_212550.3 exon/intron table
Associated with diseases HPS-8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 2
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 0
Date created April 29, 2010
Date last updated July 25, 2014
Version BLOC1S3:140725

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_212550.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Orphanet
HGNC 20914
Entrez Gene 388552
PubMed articles BLOC1S3
OMIM - Gene 609762
OMIM - Diseases HPS-8 (Hermansky-Pudlak syndrome, type 8 (HPS-8))
GeneCards BLOC1S3
GeneTests BLOC1S3

Active transcripts




NCBI ID     

NCBI Protein ID     

00003414 19 biogenesis of lysosomal organelles complex-1, subunit 3 NM_212550.3 NP_997715.1 2

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.