BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)

2014-11-01  

Identity

HGNC
LOCATION
6p24.3
LOCUSID
ALIAS
BLOS5,HPS11,MU,MUTED
FUSION GENES

Other Information

Locus ID:

NCBI: 63915
MIM: 607289
HGNC: 18561
Ensembl: ENSG00000188428

Variants:

dbSNP: 63915
ClinVar: 63915
TCGA: ENSG00000188428
COSMIC: BLOC1S5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188428ENST00000244777G5E931
ENSG00000188428ENST00000397457Q8TDH9
ENSG00000188428ENST00000543936A0A0A0MTN6
ENSG00000188428ENST00000627748A0A0D9SEU2

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176189402008Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility.19
210443672010An integrative method for scoring candidate genes from association studies: application to warfarin dosing.11

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