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Bloc1s1 Gene Detail
Summary
  • Symbol
    Bloc1s1
  • Name
    biogenesis of lysosomal organelles complex-1, subunit 1
  • Synonyms
    BLOS1, Gcn5l1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1195276
    NCBI Gene: 14533
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:128755783-128759393 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 77.19 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    23 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1195276
 protein coding gene Chr10:128753751-128759904 (-)
129S1/SvImJ MGP_129S1SvImJ_G0017890
 protein coding gene Chr10:132718872-132725025 (-)
A/J MGP_AJ_G0017865
 protein coding gene Chr10:127374766-127380919 (-)
AKR/J MGP_AKRJ_G0017828
 protein coding gene Chr10:131092058-131098210 (-)
BALB/cJ MGP_BALBcJ_G0017829
 protein coding gene Chr10:127734636-127740789 (-)
C3H/HeJ MGP_C3HHeJ_G0017652
 protein coding gene Chr10:131266976-131273199 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018284
 protein coding gene Chr10:137191053-137197206 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0015962
 protein coding gene Chr10:121281934-121288370 (-)
CAST/EiJ MGP_CASTEiJ_G0017213
 protein coding gene Chr10:131996614-132002772 (-)
CBA/J MGP_CBAJ_G0017622
 protein coding gene Chr10:142788600-142794791 (-)
DBA/2J MGP_DBA2J_G0017728
 protein coding gene Chr10:126432022-126438175 (-)
FVB/NJ MGP_FVBNJ_G0017723
 protein coding gene Chr10:125353306-125359459 (-)
LP/J MGP_LPJ_G0017802
 protein coding gene Chr10:133296580-133302735 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017751
 protein coding gene Chr10:145343940-145350093 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018324
 protein coding gene Chr10:131200278-131206431 (-)
PWK/PhJ MGP_PWKPhJ_G0016998
 protein coding gene Chr10:126701106-126707262 (-)
SPRET/EiJ MGP_SPRETEiJ_G0016787
 protein coding gene Chr10:130316562-130322726 (-)
WSB/EiJ MGP_WSBEiJ_G0017272
 protein coding gene Chr10:131432476-131438630 (-)



Homology
more
  • Human Ortholog
    BLOC1S1, biogenesis of lysosomal organelles complex 1 subunit 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BLOC1S1, biogenesis of lysosomal organelles complex 1 subunit 1
  • Synonyms
    BLOS1, BORCS1, GCN5L1, MICoA, RT14
  • Links
    NCBI Gene ID: 2647
    neXtProt AC: NX_P78537
    UniProt: P78537

  • Chr Location
    12q13.2; chr12:55716038-55720087 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    17 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.
Homozygous inactivation of this gene leads to embryonic lethality. Mouse embryonic fibroblasts show alterations in autophagy, mitochondrial physiology, and vesicle-mediated transport.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    35
  • GO References
    14
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
    712
  • Tissues
    3
  • cDNA Data
    97
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14533 NCBI Gene Model | MGI Sequence Detail 3611 C57BL/6J ±  kb
    transcript NM_015740 RefSeq | MGI Sequence Detail 550 ZRU/MplStud  
    polypeptide O55102 UniProt | EBI | MGI Sequence Detail 125 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004762 biogenesis of lysosome-related organelles complex 1 subunit 1
      (term hierarchy)
    • InterPro Domains
      IPR009395 Biogenesis of lysosome-related organelles complex 1 subunit 1
    Molecular
    Reagents
    less
    • All nucleic 103
      Genomic 4
      cDNA 98
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2147264
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 2
      Gene Ontology 14
      Phenotypes 17
    • Earliest
      J:44704 Driessen CA, et al., Cloning and structural analysis of the murine GCN5L1 gene. Gene. 1997 Dec 5;203(1):27-31
    • Latest
      J:344546 Wu K, et al., The endo-lysosomal regulatory protein BLOC1S1 modulates hepatic lysosomal content and lysosomal lipolysis. Biochem Biophys Res Commun. 2023 Jan 29;642:1-10
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory