U.S. flag

An official website of the United States government

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 26258, updated on 4-Jan-2025

    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45587123..45609716)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43395284..43417878)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding PubMed 
    enables identical protein binding PubMed 
    enables molecular adaptor activity  
    enables protein binding PubMed 
    enables protein homodimerization activity PubMed 
    enables protein homodimerization activity PubMed 
    enables syntaxin binding PubMed 
    Items 1 - 25 of 42
    Process Evidence Code Pubs
    involved_in ATP metabolic process  
    involved_in actin filament bundle assembly  
    involved_in adenosine metabolic process  
    involved_in anterograde axonal transport  
    involved_in anterograde synaptic vesicle transport  
    involved_in blood coagulation  
    involved_in bradykinin biosynthetic process  
    involved_in cellular response to epidermal growth factor stimulus  
    involved_in cilium assembly  
    involved_in circadian sleep/wake cycle  
    involved_in dentate gyrus development  
    involved_in endosome to melanosome transport PubMed 
    involved_in endothelium development  
    involved_in gene expression  
    involved_in glutamate metabolic process  
    involved_in glutamine metabolic process  
    involved_in homeostasis of number of cells  
    involved_in hypothalamus development  
    involved_in intracellular nitric oxide homeostasis  
    involved_in intracellular transport  
    involved_in kidney development  
    involved_in lipid homeostasis  
    involved_in lung alveolus development  
    involved_in melanocyte differentiation  
    involved_in melanosome organization PubMed 
    involved_in melanosome transport PubMed 
    involved_in membrane fusion  
    involved_in memory  
    involved_in multicellular organism growth  
    involved_in neuron projection development  
    involved_in phospholipid metabolic process  
    involved_in positive regulation of natural killer cell activation  
    involved_in positive regulation of pigment cell differentiation PubMed 
    involved_in protein targeting  
    involved_in protein transmembrane transport  
    involved_in respiratory system process  
    involved_in response to acetylcholine  
    involved_in response to activity  
    involved_in response to xenobiotic stimulus  
    involved_in secretion of lysosomal enzymes  
    involved_in synaptic vesicle docking PubMed 
    involved_in vasodilation  
    Items 1 - 25 of 42
    Component Evidence Code Pubs
    part_of BLOC-1 complex  
    part_of BLOC-1 complex PubMed 
    part_of BLOC-1 complex PubMed 
    part_of SNARE complex PubMed 
    located_in axon cytoplasm  
    located_in cell-cell contact zone  
    located_in contractile ring  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in endosome  
    part_of filamentous actin  
    located_in focal adhesion  
    located_in membrane-bounded organelle PubMed 
    located_in microvesicle  
    located_in presynapse  
    located_in ruffle  
    located_in stress fiber  
    is_active_in transport vesicle  
    located_in transport vesicle 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_001311255.1 → NP_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:55 → 145
      Snapin_Pallidin; Snapin/Pallidin
    2. NM_001311256.1 → NP_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:56 → 80
      Snapin_Pallidin; Snapin/Pallidin
    3. NM_012388.4 → NP_036520.1  biogenesis of lysosome-related organelles complex 1 subunit 6 isoform 2

      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:51 → 140
      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_2024_08

    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)
    Loading
    Loading
    External link. Please review our privacy policy.