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Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted [ Mus musculus (house mouse) ]

Gene ID: 17828, updated on 9-May-2024

Summary

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Official Symbol
Bloc1s5provided by MGI
Official Full Name
biogenesis of lysosomal organelles complex-1, subunit 5, mutedprovided by MGI
Primary source
MGI:MGI:2178598
See related
Ensembl:ENSMUSG00000038982 AllianceGenome:MGI:2178598
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mu; Muted; 1810074A19Rik
Summary
Involved in anterograde synaptic vesicle transport and gene expression. Acts upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in subcutaneous fat pad adult (RPKM 6.9), liver adult (RPKM 6.8) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Bloc1s5 in Genome Data Viewer
Location:
13 A3.3; 13 18.35 cM
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (38786674..38821093, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (38602698..38637117, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene thioredoxin domain containing 5 Neighboring gene predicted gene, 31834 Neighboring gene predicted gene, 40922 Neighboring gene STARR-seq mESC enhancer starr_34249 Neighboring gene STARR-positive B cell enhancer ABC_E7228 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 Neighboring gene STARR-seq mESC enhancer starr_34251 Neighboring gene DNA polymerase epsilon subunit 3 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Impaired autophagy in hilar mossy cells of the dentate gyrus and its implication in schizophrenia. Yuan Y, et al. J Genet Genomics, 2015 Jan 20. PMID 25619597
  2. Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus. Wang H, et al. J Biol Chem, 2014 Oct 17. PMID 25157109, Free PMC Article
  3. Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells. Hao Z, et al. J Cell Sci, 2015 Apr 1. PMID 25673877
  4. Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes. Larimore J, et al. J Biol Chem, 2014 May 16. PMID 24713699, Free PMC Article
  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 (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The muted protein is involved in the selective export of CgA during the biogenesis of large dense-core vesicle.
    Title: Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (3) 
  • Spontaneous (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in anterograde axonal transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in anterograde synaptic vesicle transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within developmental pigmentation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endosome to melanosome transport ISO
Inferred from Sequence Orthology
more info
  
involved_in melanosome organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in melanosome transport ISO
Inferred from Sequence Orthology
more info
  
involved_in neuron projection development NAS
Non-traceable Author Statement
more info
 PubMed 
acts_upstream_of_or_within otolith morphogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of pigment cell differentiation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 ISO
Inferred from Sequence Orthology
more info
  
is_active_in microvesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in transport vesicle ISO
Inferred from Sequence Orthology
more info
  

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 organelles complex-1, subunit 5, muted
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_139063.3 → NP_620702.1  biogenesis of lysosome-related organelles complex 1 subunit 5

    See identical proteins and their annotated locations for NP_620702.1

    Status: VALIDATED

    Source sequence(s)
    AF426433, BC024720
    Consensus CDS
    CCDS26464.1
    UniProtKB/Swiss-Prot
    Q3TCP2, Q8CAC9, Q8R015
    Related
    ENSMUSP00000036614.7, ENSMUST00000035899.8
    Conserved Domains (1) summary
    pfam14942
    Location:34 → 173
    Muted; Organelle biogenesis, Muted-like protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    38786674..38821093 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006516573.4 → XP_006516636.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform X1

    Conserved Domains (1) summary
    pfam14942
    Location:34 → 108
    Muted; Organelle biogenesis, Muted-like protein

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_178054.2: Suppressed sequence

    Description
    NM_178054.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8R015.1 GenPept UniProtKB/Swiss-Prot:Q8R015

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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