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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
  • Gene Overview
    MyGene.info: BLOC1S5
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:38602706-38635876 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 18.35 cM
  • Mapping Data
    19 experiments
Strain
Comparison
more
  • SNPs within 2kb
    186 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 Chr13:38592842-38635876 (-)
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
    9
  • Human Ortholog
    BLOC1S5, biogenesis of lysosomal organelles complex 1 subunit 5
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BLOS5, MU, MUTED
  • Links
    NCBI Gene ID: 63915
    neXtProt AC: NX_Q8TDH9
    UniProt: Q8TDH9

  • Chr Location
    6p24.3; chr6:8013567-8064414 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Bloc1s5 mouse models

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
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  • Phenotype Summary
    26 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    28 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Spontaneous
    2
  • Targeted
    2
  • Genomic Mutations
    1 involving Bloc1s5
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 17828 NCBI Gene Model | MGI Sequence Detail 33171 C57BL/6J ±  kb
transcript NM_139063 RefSeq | MGI Sequence Detail 1791 C57BL/6  
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 65
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 9
    Phenotypes 28
  • 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:231502 Hao Z, et al., Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells. J Cell Sci. 2015 Apr 1;128(7):1365-74

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory