Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hps6provided by MGI
Official Full Name: HPS6, biogenesis of lysosomal organelles complex 2 subunit 3provided by MGI
Primary source: MGI:MGI:2181763
See related: Ensembl:ENSMUSG00000074811 AllianceGenome:MGI:2181763
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ru; BLOC2; 5330434M19Rik
Summary: Predicted to enable GTP-dependent protein binding activity and small GTPase binding activity. Involved in lysosome localization. Acts upstream of or within several processes, including blood coagulation; lipid homeostasis; and protein secretion. Predicted to be located in cytosol; early endosome membrane; and endoplasmic reticulum. Predicted to be part of BLOC-2 complex. Predicted to be active in lysosomal membrane. Used to study Hermansky-Pudlak syndrome 6. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome and Hermansky-Pudlak syndrome 6. Orthologous to human HPS6 (HPS6 biogenesis of lysosomal organelles complex 2 subunit 3). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.75 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (45991917..45994612)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (46003478..46006173)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VWF maturation and release are controlled by 2 regulators of Weibel-Palade body biogenesis: exocyst and BLOC-2.
Title: VWF maturation and release are controlled by 2 regulators of Weibel-Palade body biogenesis: exocyst and BLOC-2.
This study analyzed the plasma lipid profiles of three HPS mutant mice, pa (Hps9 (-/-)), ru (Hps6 (-/-)), ep (Hps1 (-/-)), and wild-type (WT) mice. The findings may provide clues to explain why different HPS mutant mice exhibit distinct anti-atherosclerotic or atherogenic effects after being exposed to high-cholesterol diets.
Title: Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak syndrome reveals differential changes in pro- and anti-atherosclerotic lipids.
BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells
Title: BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.
BLOC-2 functions to direct recycling endosomal tubular transport intermediates to maturing melanosomes and thereby promote cargo delivery and optimal pigmentation.
Title: BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery.
The product of the Mreg(dsu) locus, melanoregulin (MREG), interacts both with members of BLOC-2 complex and with ocular albinism in regulating melanosome size.
Title: Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
Data suggest functional links between OCA2 and the BLOC-1, BLOC-2, and AP-3 protein complexes involved in melanosome biogenesis.
Title: Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.
The identification of the feeble mutation led to our subsequent observations that AP-3, as well as the BLOC-1 and BLOC-2 are essential for plasmacytoid dendritic cells signaling through TLR7 and TLR9.
Title: Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (1)
Spontaneous (8) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTP-dependent protein binding	IEA Inferred from Electronic Annotation more info
enables GTP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info
enables small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within blood coagulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in organelle organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within organelle organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in platelet dense granule organization	NAS Non-traceable Author Statement more info	PubMed
involved_in protein localization to membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to membrane	IEA Inferred from Electronic Annotation more info
involved_in protein localization to membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BLOC-2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-2 complex	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in early endosome	NAS Non-traceable Author Statement more info	PubMed
located_in early endosome membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: BLOC-2 complex member HPS6

Names: hermansky-Pudlak syndrome 6 protein homolog; ruby eye; ruby-eye protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.