Hps1 HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hps1provided by MGI
Official Full Name: HPS1, biogenesis of lysosomal organelles complex 3 subunit 1provided by MGI
Primary source: MGI:MGI:2177763
See related: Ensembl:ENSMUSG00000025188 AllianceGenome:MGI:2177763
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: ep; Hps; Gm21361; 6030422N11Rik
Summary: Predicted to enable protein dimerization activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Acts upstream of or within with a negative effect on gene expression. Acts upstream of or within several processes, including intracellular zinc ion homeostasis; positive regulation of natural killer cell activation; and secretion of lysosomal enzymes. Predicted to be located in cytoplasmic vesicle. Predicted to be part of BLOC-3 complex. Used to study Hermansky-Pudlak syndrome 1 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 1 and oculocutaneous albinism. Orthologous to human HPS1 (HPS1 biogenesis of lysosomal organelles complex 3 subunit 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 15.3), ovary adult (RPKM 9.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 36.56 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (42743629..42770013, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (42755190..42780015, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
Title: HPS1 Regulates the Maturation of Large Dense Core Vesicles and Lysozyme Secretion in Paneth Cells.
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.
Together, the results indicate that the Hps1 and Ap3b1 genes play distinct roles in male reproductive system development and spermatogenesis in mice
Title: Different functions of biogenesis of lysosomal organelles complex 3 subunit 1 (Hps1) and adaptor-related protein complex 3, beta 1 subunit (Ap3b1) genes on spermatogenesis and male fertility.
This may account for the tight correlation between Hps1 with Ptbp1 expression levels observed across mammalian tissues.
Title: Regulation of mRNA abundance by polypyrimidine tract-binding protein-controlled alternate 5' splice site choice.
Our study indicates that Ap3b1 gene play distinct roles in melanin production and tyrosinase distribution compared with Hps1 gene.
Title: The Ap3b1 gene regulates the ocular melanosome biogenesis and tyrosinase distribution differently from the Hps1 gene.
The mouse genes for HPS, pale ear and pearl, orthologous to the human HPS1 and HPS2 (ADTB3A) genes, copperate in production of platelet dense granules, melanosomes, and lysosomes.
Title: The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes.
The coat-color phenotype of young homozygous double-mutant mice deficient in subunits of BLOC-3 (HPS1) and BLOC-1 (pallidin) was indistinguishable from that of BLOC-1 single mutants.
Title: Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Defects in the ep protein not only affect melanosome biogenesis, but also play a developmental role in determining interfollicular epidermal and dermal melanocyte function.
Title: Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development.

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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) 1 citation
Endonuclease-mediated (3)
Spontaneous (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-30f4 (e-PCR)
- UniSTS:257566

BB405864 (e-PCR)
- UniSTS:209467

px-58e10 (e-PCR)
- UniSTS:257966

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info
contributes_to guanyl-nucleotide exchange factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein dimerization activity	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
acts_upstream_of_or_within cell morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within eye pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within_negative_effect gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inflammatory response	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular transport	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within intracellular zinc ion homeostasis	IMP Inferred from Mutant Phenotype 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
acts_upstream_of_or_within lung development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lung morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within lysosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in melanosome assembly	ISO Inferred from Sequence Orthology more info
involved_in melanosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in melanosome assembly	NAS Non-traceable Author Statement more info	PubMed
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
acts_upstream_of_or_within positive regulation of natural killer cell activation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within respiratory system process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within secretion of lysosomal enzymes	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-3 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-3 complex	ISO Inferred from Sequence Orthology more info
part_of BLOC-3 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: BLOC-3 complex member HPS1

Names: Hermansky-Pudlak syndrome 1 homolog; Hermansky-Pudlak syndrome protein homolog; hermansky-Pudlak syndrome 1 protein homolog; pale ear

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.