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

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

    Summary

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    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
    mouse all
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    Genomic context

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    See BLOC1S5 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (8013567..8064414, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (7882322..7933150, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. Boeckelmann D, et al. Cells, 2021 Oct 1. PMID 34685610, Free PMC Article
    2. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome. Pennamen P, et al. Genet Med, 2020 Oct. PMID 32565547, Free PMC Article
    3. A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption. Zhong Z, et al. Pigment Cell Melanoma Res, 2021 Nov. PMID 34058075
    4. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. Morris DW, et al. Biol Psychiatry, 2008 Jan 1. PMID 17618940
    5. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Zhang Q, et al. Hum Mol Genet, 2002 Mar 15. PMID 11912185, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.
      Title: A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption.
    2. A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
      Title: A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies.
    3. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
      Title: BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: An integrative method for scoring candidate genes from association studies: application to warfarin dosing.
    5. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hermansky-Pudlak syndrome 11
    MedGen: C5436936 OMIM: 619172 GeneReviews: Hermansky-Pudlak Syndrome
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough BLOC1S5-TXNDC5

    Readthrough gene: BLOC1S5-TXNDC5, Included gene: TXNDC5

    Readthrough EEF1E1-BLOC1S5

    Readthrough gene: EEF1E1-BLOC1S5, Included gene: EEF1E1

    Homology

    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

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    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)

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    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_001199322.1 → NP_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:2 → 112
      Muted; Organelle biogenesis, Muted-like protein

    2. NM_001199323.1 → NP_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:36 → 85
      Muted; Organelle biogenesis, Muted-like protein

    3. NM_201280.3 → NP_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:36 → 176
      Muted; Organelle biogenesis, Muted-like protein

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TDH9.1 GenPept UniProtKB/Swiss-Prot:Q8TDH9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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