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Bloc1s5 Gene Detail
Summary
  • Symbol
    Bloc1s5
  • Name
    biogenesis of lysosomal organelles complex-1, subunit 5, muted
  • Synonyms
    1810074A19Rik, BLOC-1 subunit, mu, Muted
  • Feature Type
    protein coding gene
  • IDs
    MGI:2178598
    NCBI Gene: 17828
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:38786674-38821093 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 18.35 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    949 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2178598
 protein coding gene Chr13:38776818-38821093 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020474
 protein coding gene Chr13:36965791-37001323 (-)
A/J MGP_AJ_G0020428
 protein coding gene Chr13:35779574-35812669 (-)
AKR/J MGP_AKRJ_G0020406
 protein coding gene Chr13:36732062-36766886 (-)
BALB/cJ MGP_BALBcJ_G0020424
 protein coding gene Chr13:35882723-35916119 (-)
C3H/HeJ MGP_C3HHeJ_G0020223
 protein coding gene Chr13:36567820-36601491 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020857
 protein coding gene Chr13:38158779-38206322 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018444
 protein coding gene Chr13:33966258-33999904 (-)
CAST/EiJ MGP_CASTEiJ_G0019738
 protein coding gene Chr13:36347898-36382525 (-)
CBA/J MGP_CBAJ_G0020184
 protein coding gene Chr13:39787009-39825643 (-)
DBA/2J MGP_DBA2J_G0020306
 protein coding gene Chr13:35300751-35333872 (-)
FVB/NJ MGP_FVBNJ_G0020285
 protein coding gene Chr13:34830109-34862947 (-)
LP/J MGP_LPJ_G0020381
 protein coding gene Chr13:37205984-37241871 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020315
 protein coding gene Chr13:39855413-39895084 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020900
 protein coding gene Chr13:36299389-36331692 (-)
PWK/PhJ MGP_PWKPhJ_G0019493
 protein coding gene Chr13:35429129-35461598 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019324
 protein coding gene Chr13:34982434-35014606 (-)
WSB/EiJ MGP_WSBEiJ_G0019800
 protein coding gene Chr13:36657060-36691279 (-)



Homology
more
  • Human Ortholog
    BLOC1S5, biogenesis of lysosomal organelles complex 1 subunit 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BLOC1S5, biogenesis of lysosomal organelles complex 1 subunit 5
  • Synonyms
    BLOS5, HPS11, MU, MUTED
  • Links
    NCBI Gene ID: 63915
    neXtProt AC: NX_Q8TDH9
    UniProt: Q8TDH9

  • Chr Location
    6p24.3; chr6:8013567-8064414 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Bloc1s5 mouse models; 1 with human BLOC1S5 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 3 alleles in 4 genetic backgrounds
    1 images
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations at this locus cause pigment dilution, prolonged bleeding time, and inner ear abnormalities, modeling Hermansky-Pudlak Syndrome.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    706
  • cDNA Data
    40
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17828 NCBI Gene Model | MGI Sequence Detail 34420 C57BL/6J ±  kb
    transcript NM_139063 RefSeq | MGI Sequence Detail 1757 ZRU/MplStud  
    polypeptide Q8R015 UniProt | EBI | MGI Sequence Detail 185 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 51
      Genomic 11
      cDNA 40

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-12702, MGI:1923762, MGI:97230
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 1
      Diseases 2
      Gene Ontology 13
      Phenotypes 38
    • Earliest
      J:5145 Lyon MF, et al., Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV. Genet Res. 1969 Oct;14(2):163-6
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory