BLOC1S5 - biogenesis of lysosomal organelles complex 1 subunit 5 Gene

Homo sapiens (human)

Also known as MU; BLOS5; HPS11; MUTED

Gene ID: 63915 | Gene type: protein coding

About BLOC1S5

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12019270	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01523	BLOC1S1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01524	BLOC1S2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01525	BLOC1S6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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