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    BLOC1S6 biogenesis of lysosomal organelles complex 1 subunit 6 [ Homo sapiens (human) ]

    Gene ID: 26258, updated on 11-Apr-2024

    Summary

    Official Symbol
    BLOC1S6provided by HGNC
    Official Full Name
    biogenesis of lysosomal organelles complex 1 subunit 6provided by HGNC
    Primary source
    HGNC:HGNC:8549
    See related
    Ensembl:ENSG00000104164 MIM:604310; AllianceGenome:HGNC:8549
    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
    PA; HPS9; PLDN; BLOS6; PALLID
    Summary
    The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 21.0), prostate (RPKM 17.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BLOC1S6 in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45587123..45609716)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43395284..43417878)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45879321..45901914)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 46 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45839047-45839548 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45839549-45840048 Neighboring gene small nucleolar RNA, H/ACA box 41B Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:45840653-45841852 Neighboring gene MPRA-validated peak2326 silencer Neighboring gene developmental pluripotency associated 5 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9363 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:45880103-45880723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9364 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45926371-45927366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9365 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9369 Neighboring gene sulfide quinone oxidoreductase Neighboring gene uncharacterized LOC124903484

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular adaptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables syntaxin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ATP metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in actin filament bundle assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in adenosine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bradykinin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to epidermal growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in circadian sleep/wake cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dentate gyrus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosome to melanosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hypothalamus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular nitric oxide homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanosome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in melanosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane fusion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in phospholipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of pigment cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein targeting IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in respiratory system process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to acetylcholine IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in secretion of lysosomal enzymes IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle docking NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BLOC-1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of SNARE complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell-cell contact zone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in contractile ring IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    part_of filamentous actin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvesicle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stress fiber IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    biogenesis of lysosome-related organelles complex 1 subunit 6
    Names
    BLOC-1 subunit 6
    BLOC-1 subunit pallidin
    biogenesis of lysosomal organelles complex-1, subunit 5, pallidin
    biogenesis of lysosomal organelles complex-1, subunit 6, pallidin
    pallid protein homolog
    syntaxin 13 binding protein 1
    syntaxin 13-interacting protein pallid

    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_028194.2 RefSeqGene

      Range
      4905..27498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_883

    mRNA and Protein(s)

    1. NM_001311255.1NP_001298184.1  biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AK128626, AL596952, BC026289, BP423071, DA230439
      Consensus CDS
      CCDS81878.1
      UniProtKB/TrEMBL
      B2RDK7, H3BST1
      Related
      ENSP00000456851.1, ENST00000565323.6
      Conserved Domains (1) summary
      pfam14712
      Location:55145
      Snapin_Pallidin; Snapin/Pallidin
    2. NM_001311256.1NP_001298185.1  biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) lacks an alternate exon in the central coding region, which results in a frameshift and an early stop codon, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AK128626, BC026289, BP423071, DA226593, DA230439, DA523523
      UniProtKB/TrEMBL
      B3KY40
      Conserved Domains (1) summary
      pfam14712
      Location:5680
      Snapin_Pallidin; Snapin/Pallidin
    3. NM_012388.4NP_036520.1  biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2

      See identical proteins and their annotated locations for NP_036520.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform 2, which has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AF080470, AK128626, BC026289
      Consensus CDS
      CCDS10126.1
      UniProtKB/Swiss-Prot
      Q9UL45
      UniProtKB/TrEMBL
      B2RDK7
      Related
      ENSP00000220531.4, ENST00000220531.9
      Conserved Domains (1) summary
      pfam14712
      Location:51140
      Snapin_Pallidin; Snapin/Pallidin

    RNA

    1. NR_132350.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK128626, BC026289, BP423071, DA230439
      Related
      ENST00000568816.5
    2. NR_132351.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK057545, AK128626, BC026289
    3. NR_132352.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AF080470, AK128626, BC026289, DA247079
    4. NR_132353.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AK128626, BC026289, BP423071, DA468279, DB212570
    5. NR_132354.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF080470, AK128626, BC026289, BP423071, DA468279, DA798595
    6. NR_132355.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains an alternate 5' exon and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK128626, BC026289, DB287075
    7. NR_132356.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains an alternate 5' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK128626, BC026289, DA237963, DB289156
    8. NR_132357.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) contains an alternate 5' exon and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK128626, BC026289, DA237963, DA859617
    9. NR_132358.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK128626, BC026289, BP423071, DA226593, DA230439
    10. NR_132359.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (13) contains an alternate 5' terminal exon and lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AK128626, BC026289, DA233328, DA237963

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      45587123..45609716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      43395284..43417878
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)