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

Gene ID: 63915, updated on 11-Apr-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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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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 (35) 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
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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_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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8TDH9.1 GenPept UniProtKB/Swiss-Prot:Q8TDH9

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