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    HPS6 HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 [ Homo sapiens (human) ]

    Gene ID: 79803, updated on 19-Feb-2024

    Summary

    Official Symbol
    HPS6provided by HGNC
    Official Full Name
    HPS6 biogenesis of lysosomal organelles complex 2 subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:18817
    See related
    Ensembl:ENSG00000166189 MIM:607522; AllianceGenome:HGNC:18817
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BLOC2S3
    Summary
    This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
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    Genomic context

    See HPS6 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102065349..102068036)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (102950361..102953048)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103825106..103827793)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927445 Neighboring gene armadillo like helical domain containing 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:103662223-103662886 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3918 Neighboring gene uncharacterized LOC124902492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103698366-103699565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103795088-103795895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3921 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:103867277-103867778 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103870016-103871215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2741 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2739 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103876901-103877603 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103877604-103878305 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2745 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103880011-103880762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103880763-103881514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:103881515-103882264 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:103887116-103887946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2749 Neighboring gene LIM domain binding 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103897995-103899194 Neighboring gene PPARG related coactivator 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103911632-103912831 Neighboring gene nucleolar and coiled-body phosphoprotein 1

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV Vif interacts with HPS6 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ22501, MGC20522

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP-dependent protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular transport NAS
    Non-traceable Author Statement
    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 melanosome assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in organelle organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 

    General protein information

    Preferred Names
    BLOC-2 complex member HPS6
    Names
    Hermansky-Pudlak syndrome-6 protein (HPS6)
    ruby-eye protein homolog

    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.

    Genomic

    1. NG_012029.1 RefSeqGene

      Range
      4978..7649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_564

    mRNA and Protein(s)

    1. NM_024747.6NP_079023.2  BLOC-2 complex member HPS6

      See identical proteins and their annotated locations for NP_079023.2

      Status: REVIEWED

      Source sequence(s)
      AL500527, BC011594, BI761726
      Consensus CDS
      CCDS7527.1
      UniProtKB/Swiss-Prot
      Q5VV69, Q86YV9, Q9H685
      Related
      ENSP00000299238.5, ENST00000299238.7
      Conserved Domains (1) summary
      pfam15702
      Location:1763
      HPS6; Hermansky-Pudlak syndrome 6 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102065349..102068036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      102950361..102953048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)