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

    Gene ID: 192236, updated on 4-Jan-2025

    Summary

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    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, Jan 2025]
    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

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    See Hps1 in Genome Data Viewer
    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_000085.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25216 Neighboring gene pyridine nucleotide-disulphide oxidoreductase domain 2 Neighboring gene predicted gene, 19437 Neighboring gene predicted gene 16244 Neighboring gene heparanase 2 Neighboring gene STARR-seq mESC enhancer starr_46190 Neighboring gene STARR-seq mESC enhancer starr_46192 Neighboring gene STARR-seq mESC enhancer starr_46193 Neighboring gene high mobility group box 3 pseudogene Neighboring gene leucine zipper transcription factor-like 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Two distinct phenotypes in pigmented cells of different embryonic origins in eyes of pale ear mice. Jing R, et al. Exp Eye Res, 2014 Feb. PMID 24361037
    2. Pigment, platelets, and Hermansky-Pudlak in human and mouse. Erickson RP. Proc Natl Acad Sci U S A, 1997 Aug 19. PMID 9256409, Free PMC Article
    3. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Feng GH, et al. Hum Mol Genet, 1997 May. PMID 9158155
    4. Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. Nguyen T, et al. J Invest Dermatol, 2007 Feb. PMID 17068483
    5. The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. Novak EK, et al. Blood, 1981 Jan. PMID 7448413

    See all (84) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC102063

    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.

    mRNA and Protein(s)

    1. NM_001346703.2 → NP_001333632.1  BLOC-3 complex member HPS1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC125458
      Consensus CDS
      CCDS84439.1
      UniProtKB/Swiss-Prot
      O08983, O35155, O35725, O35950
      UniProtKB/TrEMBL
      Q3U309
      Related
      ENSMUSP00000125662.2, ENSMUST00000160455.8

    2. NM_001362410.1 → NP_001349339.1  BLOC-3 complex member HPS1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC125458
      Consensus CDS
      CCDS89393.1
      UniProtKB/TrEMBL
      E9PYL0, Q80VD7
      Related
      ENSMUSP00000124209.2, ENSMUST00000162061.2

    3. NM_019424.3 → NP_062297.1  BLOC-3 complex member HPS1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC125458, BB843487, BC058332, BG062886, U97149
      Consensus CDS
      CCDS37992.1
      UniProtKB/Swiss-Prot
      O08983, O35155, O35725, O35950
      UniProtKB/TrEMBL
      A0A0R4J062
      Related
      ENSMUSP00000125226.2, ENSMUST00000162004.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      42743629..42770013 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526770.5 → XP_006526833.1  BLOC-3 complex member HPS1 isoform X1

      UniProtKB/Swiss-Prot
      O08983, O35155, O35725, O35950
      UniProtKB/TrEMBL
      Q3U309

    2. XM_030250777.2 → XP_030106637.1  BLOC-3 complex member HPS1 isoform X2

      UniProtKB/Swiss-Prot
      O08983, O35155, O35725, O35950
      UniProtKB/TrEMBL
      A0A0R4J062

    3. XM_030250778.2 → XP_030106638.1  BLOC-3 complex member HPS1 isoform X4

      UniProtKB/TrEMBL
      E9PYL0, Q80VD7

    4. XM_036161466.1 → XP_036017359.1  BLOC-3 complex member HPS1 isoform X3

      UniProtKB/TrEMBL
      E9Q045, Q8CD56
      Related
      ENSMUSP00000071069.7, ENSMUST00000069298.13
      Conserved Domains (3) summary
      pfam19036
      Location:2 → 159
      Fuz_longin_1; First Longin domain of FUZ, MON1 and HPS1
      pfam19037
      Location:204 → 249
      Fuz_longin_2; Second Longin domain of FUZ, MON1 and HPS1
      pfam19038
      Location:552 → 596
      Fuz_longin_3; Third Longin domain of FUZ, MON1 and HPS1

    5. XM_006526774.5 → XP_006526837.1  BLOC-3 complex member HPS1 isoform X4

      UniProtKB/TrEMBL
      E9PYL0, Q80VD7

    6. XM_006526775.5 → XP_006526838.1  BLOC-3 complex member HPS1 isoform X5

      UniProtKB/TrEMBL
      Q8CD56

    RNA

    1. XR_386447.5 RNA Sequence

    2. XR_877667.4 RNA Sequence

    3. XR_386448.5 RNA Sequence

    4. XR_386449.5 RNA Sequence

    5. XR_001782561.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O08983.2 GenPept UniProtKB/Swiss-Prot:O08983

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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