Bloc1s6 - biogenesis of lysosomal organelles complex-1, subunit 6, pallidin Gene

Mus musculus

Also known as pa; Hps9; Pldn; BLOC-1; Stx13bp1

Gene ID: 18457 | Gene type: protein coding

About Bloc1s6

Summary

Predicted to enable actin filament binding activity and protein homodimerization activity. Involved in several processes, including cellular amino acid metabolic process; limbic system development; and vesicle organization. Acts upstream of or within several processes, including melanocyte differentiation; positive regulation of natural killer cell activation; and secretion of lysosomal Enzymes. Located in ciliary basal body and endosome. Part of BLOC-1 complex. Is expressed in brain; spinal cord; and thoracic ganglion. Used to study Hermansky-Pudlak syndrome 9; platelet storage pool deficiency; and pulmonary emphysema. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 9. Orthologous to human BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6). [provided by Alliance of Genome Resources, Apr 2022]

Bloc1s6 Products(1)

mRNA	Protein	Name
NM_019788.3	NP_062762.1	biogenesis of lysosome-related organelles complex 1 subunit 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables molecular adaptor activity	IDA IDA: Inferred from direct assay	19116644	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	12576321	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within ATP metabolic process	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within actin filament bundle assembly	IMP IMP: Inferred from mutant phenotype	19116644	MGI
acts upstream of or within adenosine metabolic process	IMP IMP: Inferred from mutant phenotype	28701731	MGI
acts upstream of or within amino acid metabolic process	IMP IMP: Inferred from mutant phenotype	28701731	MGI
involved in anterograde axonal transport	IMP IMP: Inferred from mutant phenotype	21998198	MGI
involved in anterograde synaptic vesicle transport	IMP IMP: Inferred from mutant phenotype	21998198	MGI
acts upstream of or within blood coagulation	IMP IMP: Inferred from mutant phenotype	6696991	MGI
acts upstream of or within bradykinin biosynthetic process	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within cellular response to epidermal growth factor stimulus	IDA IDA: Inferred from direct assay	19116644	MGI
acts upstream of or within cilium assembly	IMP IMP: Inferred from mutant phenotype	28576874	MGI
acts upstream of or within circadian sleep/wake cycle	IMP IMP: Inferred from mutant phenotype	30498428	MGI
acts upstream of or within dentate gyrus development	IMP IMP: Inferred from mutant phenotype	30498428	MGI
acts upstream of or within endothelium development	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within gene expression	IMP IMP: Inferred from mutant phenotype	16439805	MGI
acts upstream of or within glutamate metabolic process	IMP IMP: Inferred from mutant phenotype	28701731	MGI
acts upstream of or within glutamine metabolic process	IMP IMP: Inferred from mutant phenotype	28701731	MGI
acts upstream of or within homeostasis of number of cells	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within hypothalamus development	IMP IMP: Inferred from mutant phenotype	30498428	MGI
acts upstream of or within intracellular nitric oxide homeostasis	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within kidney development	IMP IMP: Inferred from mutant phenotype	28576874	MGI
acts upstream of or within lipid homeostasis	IMP IMP: Inferred from mutant phenotype	30710063	MGI
acts upstream of or within lipid metabolic process	IMP IMP: Inferred from mutant phenotype	30710063	MGI
acts upstream of or within lung alveolus development	IMP IMP: Inferred from mutant phenotype	16439805	MGI
acts upstream of or within lung development	IMP IMP: Inferred from mutant phenotype	16439805	MGI
acts upstream of or within melanocyte differentiation	IMP IMP: Inferred from mutant phenotype	2379821	MGI
acts upstream of or within membrane fusion	IPI IPI: Inferred from physical interaction	10610180	MGI
acts upstream of or within memory	IMP IMP: Inferred from mutant phenotype	26294018	MGI
acts upstream of or within multicellular organism growth	IMP IMP: Inferred from mutant phenotype	19381131	MGI
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	19546860	MGI
acts upstream of or within phospholipid metabolic process	IMP IMP: Inferred from mutant phenotype	28701731	MGI
acts upstream of or within pigmentation	IMP IMP: Inferred from mutant phenotype	2379821	MGI
acts upstream of or within positive regulation of natural killer cell activation	IMP IMP: Inferred from mutant phenotype	7089489	MGI
acts upstream of or within protein secretion	IMP IMP: Inferred from mutant phenotype	29074498	MGI
acts upstream of or within protein targeting	IMP IMP: Inferred from mutant phenotype	16760431	MGI
acts upstream of or within protein transmembrane transport	IMP IMP: Inferred from mutant phenotype	28576874	MGI
acts upstream of or within respiratory system process	IMP IMP: Inferred from mutant phenotype	19381131	MGI
acts upstream of or within response to acetylcholine	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within response to activity	IMP IMP: Inferred from mutant phenotype	19381131	MGI
acts upstream of or within response to xenobiotic stimulus	IMP IMP: Inferred from mutant phenotype	12485443	MGI
acts upstream of or within secretion of lysosomal enzymes	IMP IMP: Inferred from mutant phenotype	7089489	MGI
acts upstream of or within vasodilation	IMP IMP: Inferred from mutant phenotype	12485443	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
part of BLOC-1 complex	IDA IDA: Inferred from direct assay	12576321	MGI
is active in cell-cell contact zone	IDA IDA: Inferred from direct assay	19116644	MGI
is active in contractile ring	IDA IDA: Inferred from direct assay	19116644	MGI
located in endosome	IDA IDA: Inferred from direct assay	10610180	MGI
part of filamentous actin	IDA IDA: Inferred from direct assay	19116644	MGI
is active in focal adhesion	IDA IDA: Inferred from direct assay	19116644	MGI
is active in microvesicle	IDA IDA: Inferred from direct assay	16760431	MGI
is active in ruffle	IDA IDA: Inferred from direct assay	19116644	MGI
is active in stress fiber	IDA IDA: Inferred from direct assay	19116644	MGI

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 6

BLOC-1 subunit 6	biogenesis of organelles complex-1, subunit 6, pallidin
pallid protein	pallidin
syntaxin 13 binding protein 1	syntaxin 13-interacting protein pallid

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

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

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Bloc1s6	NCBI	NCBI:26258

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