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

    Gene ID: 20170, updated on 18-Sep-2024

    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 lipid homeostasis; lysosome localization; and protein secretion. Acts upstream of or within blood coagulation; melanocyte differentiation; and organelle organization. Predicted to be located in several cellular components, including endoplasmic reticulum; endosome; and lysosome. 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, Apr 2022]
    Orthologs
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    Genomic context

    See Hps6 in Genome Data Viewer
    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_000085.7Genomic Context describing neighboring genes Neighboring gene Kv channel-interacting protein 2 Neighboring gene STARR-seq mESC enhancer starr_46286 Neighboring gene STARR-positive B cell enhancer ABC_E7665 Neighboring gene armadillo-like helical domain containing 3 Neighboring gene STARR-seq mESC enhancer starr_46288 Neighboring gene ribosomal protein L21 pseudogene Neighboring gene STARR-seq mESC enhancer starr_46291 Neighboring gene RIKEN cDNA 4930505N22 gene Neighboring gene STARR-positive B cell enhancer ABC_E4287 Neighboring gene STARR-seq mESC enhancer starr_46294 Neighboring gene STARR-positive B cell enhancer ABC_E5707 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:46114769-46114954 Neighboring gene STARR-positive B cell enhancer ABC_E1527 Neighboring gene LIM domain binding 1 Neighboring gene peroxisome proliferative activated receptor, gamma, coactivator-related 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (1) 
    • Spontaneous (8)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • MGC31055

    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

    Preferred Names
    BLOC-2 complex member HPS6
    Names
    hermansky-Pudlak syndrome 6 protein homolog
    ruby eye
    ruby-eye protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_176785.3NP_789742.2  BLOC-2 complex member HPS6

      See identical proteins and their annotated locations for NP_789742.2

      Status: VALIDATED

      Source sequence(s)
      AC150685, AF536239, AK040849
      Consensus CDS
      CCDS29869.1
      UniProtKB/Swiss-Prot
      Q3TWQ8, Q8BLY7, Q8BML5, Q8CIA3
      Related
      ENSMUSP00000096991.3, ENSMUST00000099393.4
      Conserved Domains (1) summary
      pfam15702
      Location:1762
      HPS6; Hermansky-Pudlak syndrome 6 protein

    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
      45991917..45994612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)