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    BLOC1S3 biogenesis of lysosomal organelles complex 1 subunit 3 [ Homo sapiens (human) ]

    Gene ID: 388552, updated on 7-Sep-2023

    Summary

    Official Symbol
    BLOC1S3provided by HGNC
    Official Full Name
    biogenesis of lysosomal organelles complex 1 subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:20914
    See related
    Ensembl:ENSG00000189114 MIM:609762; AllianceGenome:HGNC:20914
    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
    RP; HPS8; BLOS3
    Summary
    This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 2.9), skin (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BLOC1S3 in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45178784..45217083)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48003901..48043728)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45682042..45685058)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45658871-45659588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45663890-45664522 Neighboring gene NTPase KAP family P-loop domain containing 1 Neighboring gene trafficking protein particle complex subunit 6A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45680873-45681816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45682829-45683329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45683755-45684256 Neighboring gene Sharpr-MPRA regulatory region 2997 Neighboring gene Sharpr-MPRA regulatory region 12921 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45719170-45719704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45720327-45721022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45721023-45721716 Neighboring gene exocyst complex component 3 like 2 Neighboring gene exocyst complex component 3 like 4 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45748359-45749355 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45755437-45755993 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45767676-45768261 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45768262-45768846 Neighboring gene microtubule affinity regulating kinase 4

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Hermansky-Pudlak syndrome 8
    MedGen: C3888026 OMIM: 614077 GeneReviews: Hermansky-Pudlak Syndrome
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ26641, FLJ26676, AC006126.3

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    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 endosome to melanosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in platelet dense granule organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of natural killer cell activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transmembrane transport 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
     
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    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 3
    Names
    BLOC-1 subunit 3
    biogenesis of lysosome-related organelles complex-1, subunit 3
    reduced pigmentation, mouse, homolog of

    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_008372.1 RefSeqGene

      Range
      5001..8057
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_546

    mRNA and Protein(s)

    1. NM_212550.5NP_997715.1  biogenesis of lysosome-related organelles complex 1 subunit 3

      See identical proteins and their annotated locations for NP_997715.1

      Status: REVIEWED

      Source sequence(s)
      AA436323, AC005757, AK130151, AK296695, AY531266, BU616355, DC422050
      Consensus CDS
      CCDS12656.1
      UniProtKB/Swiss-Prot
      B2RXB8, Q6QNY0
      Related
      ENSP00000393840.1, ENST00000433642.3
      Conserved Domains (1) summary
      pfam15753
      Location:16187
      BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45178784..45217083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007066811.1 RNA Sequence

    2. XR_007066813.1 RNA Sequence

    3. XR_007066812.1 RNA Sequence

    4. XR_007066810.1 RNA Sequence

    5. XR_001753683.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48003901..48043728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485149.1 RNA Sequence

    2. XR_008485151.1 RNA Sequence

    3. XR_008485150.1 RNA Sequence

    4. XR_008485147.1 RNA Sequence

    5. XR_008485148.1 RNA Sequence