BLOC1S5

GENE INFORMATION

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Gene name

BLOC1S5 (HGNC Symbol)

Synonyms

dJ303A1.3, MU, MUTED

Description

Biogenesis of lysosomal organelles complex-1, subunit 5, muted (HGNC Symbol)

Entrez gene summary

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]

Chromosome

6

Cytoband

p24.3

Chromosome location (bp)

8013800 - 8064647

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000188428 (version 75.37)

Entrez gene

63915

UniProt

Q8TDH9 (UniProt - Evidence at protein level)

neXtProt

NX_Q8TDH9

Antibodypedia

BLOC1S5 antibodies
 

PROTEIN VIEW

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BLOC1S5-001
 
BLOC1S5-003
 
BLOC1S5-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BLOC1S5-001 ENSP00000380598
ENST00000397457
Q8TDH9
Show all »
Show » Show » 187 21.6 No 0
BLOC1S5-003 ENSP00000244777
ENST00000244777
G5E931
Show all »
Show » Show » 114 12.8 No 0
BLOC1S5-201 ENSP00000445215
ENST00000543936
Q8TDH9
Show all »
Show » Show » 123 14.9 No 0