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

    Gene ID: 20170, updated on 23-Jun-2021

    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
    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
    r; ru; BLOC; BLOC2; 5330434M19Rik
    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
    109 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)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (46077968..46080663)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene Kv channel-interacting protein 2 Neighboring gene armadillo-like helical domain containing 3 Neighboring gene ribosomal protein L21 pseudogene Neighboring gene RIKEN cDNA 4930505N22 gene 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)
    • Spontaneous (8)  1 citation
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (1) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Clone Names

    • MGC31055

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    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 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 lysosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 melanocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within melanocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in organelle organization IBA
    Inferred from Biological aspect of Ancestor
    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 protein localization to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to membrane ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of BLOC-2 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BLOC-2 complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Hermansky-Pudlak syndrome 6 protein homolog
    Names
    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.

    mRNA and Protein(s)

    1. NM_176785.3NP_789742.2  Hermansky-Pudlak syndrome 6 protein homolog

      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
      Q8BLY7
      Related
      ENSMUSP00000096991.3, ENSMUST00000099393.4
      Conserved Domains (1) summary
      pfam15702
      Location:1762
      HPS6; Hermansky-Pudlak syndrome 6 protein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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)
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