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    BLOC1S5 biogenesis of lysosomal organelles complex 1 subunit 5 [ Homo sapiens (human) ]

    Gene ID: 63915, updated on 2-May-2024

    Summary

    Official Symbol
    BLOC1S5provided by HGNC
    Official Full Name
    biogenesis of lysosomal organelles complex 1 subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:18561
    See related
    Ensembl:ENSG00000188428 MIM:607289; AllianceGenome:HGNC:18561
    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
    MU; BLOS5; HPS11; MUTED
    Summary
    This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 8.1), thyroid (RPKM 6.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BLOC1S5 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (8013567..8064414, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7882322..7933150, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (8013800..8064647, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene bone morphogenetic protein 6 Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:7882299-7883498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16892 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23952 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:7919793-7920992 Neighboring gene thioredoxin domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23954 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:7986177-7986678 Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8012284-8012492 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene MPRA-validated peak5648 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:8063830-8064456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23957 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8102180-8102365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16896 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:8109366-8109558 Neighboring gene small Cajal body-specific RNA 27 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23958 Neighboring gene uncharacterized LOC105374910 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:8180101-8180646 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:8230067-8230588

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough BLOC1S5-TXNDC5

    Readthrough gene: BLOC1S5-TXNDC5, Included gene: TXNDC5

    Readthrough EEF1E1-BLOC1S5

    Readthrough gene: EEF1E1-BLOC1S5, Included gene: EEF1E1

    Clone Names

    • FLJ18427, DKFZp686E2287

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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 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 otolith morphogenesis 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 vesicle-mediated transport 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 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microvesicle IEA
    Inferred from Electronic Annotation
    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 5
    Names
    BLOC-1 subunit 5
    biogenesis of lysosomal organelles complex-1, subunit 5, muted
    muted homolog
    protein Muted 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.

    mRNA and Protein(s)

    1. NM_001199322.1NP_001186251.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 2

      See identical proteins and their annotated locations for NP_001186251.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an additional internal exon, resulting in the use of an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AA653396, AL096800, BC119645, DA635930
      UniProtKB/Swiss-Prot
      Q8TDH9
      Conserved Domains (1) summary
      pfam14942
      Location:2112
      Muted; Organelle biogenesis, Muted-like protein
    2. NM_001199323.1NP_001186252.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 3

      See identical proteins and their annotated locations for NP_001186252.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (3) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AA653396, AL096800, BM829259, DA635930
      Consensus CDS
      CCDS75394.1
      UniProtKB/TrEMBL
      A0A0A0MTN6
      Related
      ENSP00000445215.2, ENST00000543936.7
      Conserved Domains (1) summary
      pfam14942
      Location:3685
      Muted; Organelle biogenesis, Muted-like protein
    3. NM_201280.3NP_958437.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 1

      See identical proteins and their annotated locations for NP_958437.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AA653396, AF426434, AL096800
      Consensus CDS
      CCDS4506.1
      UniProtKB/Swiss-Prot
      B4DVM2, Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q8TDH9, Q9NU16
      Related
      ENSP00000380598.2, ENST00000397457.7
      Conserved Domains (1) summary
      pfam14942
      Location:36176
      Muted; Organelle biogenesis, Muted-like 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      8013567..8064414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      7882322..7933150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)