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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
  • Gene Overview
    MyGene.info: BLOC1S1
  • Alliance
Location &
Maps
more
  • Sequence Map
    Chr10:128919220-128923550 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 77.19 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    31 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 Chr10:128917882-128924035 (-)
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
    8
  • Human Ortholog
    BLOC1S1, biogenesis of lysosomal organelles complex 1 subunit 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BLOS1, BORCS1, GCN5L1, MICoA, RT14
  • Links
    NCBI Gene ID: 2647
    neXtProt AC: NX_P78537
    UniProt: P78537

  • Chr Location
    12q13.2; chr12:55716034-55719707 (+)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 2 alleles in 3 genetic backgrounds
    1 images
    8 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.
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
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  • 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
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Representative SequencesLengthStrain/SpeciesFlank
genomic 14533 NCBI Gene Model | MGI Sequence Detail 4331 C57BL/6J ±  kb
transcript NM_015740 RefSeq | MGI Sequence Detail 550 C57BL/6  
polypeptide O55102 UniProt | EBI | MGI Sequence Detail 125 Not Applicable  
For the selected sequence
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004762 biogenesis of lysosome-related organelles complex 1 subunit 1
  • InterPro Domains
    IPR009395 Biogenesis of lysosome-related organelles complex 1 subunit 1
Molecular
Reagents
less
  • All nucleic 102
    Genomic 4
    cDNA 98

    Microarray probesets 4
Other
Accession IDs
less
MGI:2147264
References
more
  • Summaries
    All 43
    Developmental Gene Expression 2
    Gene Ontology 11
    Phenotypes 8
  • 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:252610 Wang L, et al., GCN5L1 modulates cross-talk between mitochondria and cell signaling to regulate FoxO1 stability and gluconeogenesis. Nat Commun. 2017 Sep 12;8(1):523

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory