BLOC1S5 - biogenesis of lysosomal organelles complex 1 subunit 5 Gene

Also Known as MU; BLOS5; HPS11; MUTED

Species: Homo sapiens (human)

Gene Type: protein coding
Gene ID: 63915

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]

BLOC1S5 Products (1)

mRNA Protein Name
NM_001199322.1 NP_001186251.1 biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12019270 GOA
Biological Process GO Annotation Evidence References Source
involved in endosome to melanosome transport IDA
IDA: Inferred from direct assay
17182842 GOA
involved in melanosome transport IDA
IDA: Inferred from direct assay
17182842 GOA
involved in positive regulation of pigment cell differentiation IDA
IDA: Inferred from direct assay
17182842 GOA
Cellular Component GO Annotation Evidence References Source
part of BLOC-1 complex IDA
IDA: Inferred from direct assay
15102850 GOA
part of BLOC-1 complex IPI
IPI: Inferred from physical interaction
22203680 GOA
located in transport vesicle IDA
IDA: Inferred from direct assay
17182842 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

biogenesis of lysosome-related organelles complex 1 subunit 5

  • BLOC-1 subunit 5

  • biogenesis of lysosomal organelles complex-1, subunit 5, muted

  • muted homolog

  • protein Muted homolog

BLOC1S5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BLOC1S5 Q8TDH9 ABI2 Homo sapiens Q9NYB9-2
Validated Y2H
32296183
Intra
BLOC1S5 Q8TDH9 PKNOX1 Homo sapiens P55347
Y2H Prey Pooling
32296183
Intra
BLOC1S5 Q8TDH9 PKNOX1 Homo sapiens P55347
Y2H Array
32296183
Intra
BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Y2H Prey Pooling
25416956
Intra
BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Validated Y2H
25416956
Intra
BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Y2H Prey Pooling
32296183
Intra
BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Validated Y2H
32296183
Intra
BLOC1S5 Q8TDH9 TSNAX Homo sapiens Q99598
Y2H Array
32296183
Intra
BLOC1S5 Q8TDH9 PBX2 Homo sapiens P40425
Y2H Array
32296183
Intra
BLOC1S5 Q8TDH9 PBX2 Homo sapiens P40425
Y2H Prey Pooling
32296183
Intra
BLOC1S5 Q8TDH9 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Intra
BLOC1S5 Q8TDH9 DTNBP1 Homo sapiens Q96EV8
Y2H
15102850
Intra
BLOC1S5 Q8TDH9 BLOC1S2 Homo sapiens Q6QNY1
Anti Tag CoIP
33961781
Intra
BLOC1S5 Q8TDH9 ABI3 Homo sapiens Q9P2A4
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (6)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS29516 BLOC1S3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS01523 BLOC1S1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS01524 BLOC1S2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS01525 BLOC1S6 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19834 Bloc1s2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26331 Bloc1s2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown