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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
Location & Maps
more
  • Sequence Map
    Chr10:128917882-128924035 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6154 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 77.19 cM
  • Mapping Data
    2 experiments
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: HGNC, HomoloGene
  • Synonyms
    BLOS1, BORCS1, GCN5L1, MICoA, RT14
  • Links
    NCBI Gene ID: 2647
    neXtProt AC: NX_P78537

  • Chr Location
    12q13-q14; chr12:55716034-55719707 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    4 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.
  • All Mutations and Alleles
    3
  • Gene trapped
    1
  • Targeted
    2
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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 OTTMUSG00000033474 VEGA Gene Model | MGI Sequence Detail 6154 C57BL/6J ±  kb
transcript OTTMUST00000084120 VEGA | MGI Sequence Detail 550 Not Applicable  
polypeptide OTTMUSP00000045287 VEGA | MGI Sequence Detail 125 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    40 from dbSNP Build 142
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
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  • All nucleic 101
    Genomic 4
    cDNA 97

    Microarray probesets 4
Other
Accession IDs
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MGI:2147264
References
more
  • Summaries
    All 36
    Developmental Gene Expression 1
    Gene Ontology 10
    Phenotypes 4
  • 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:231358 Cameron TL, et al., Cartilage-specific ablation of XBP1 signaling in mouse results in a chondrodysplasia characterized by reduced chondrocyte proliferation and delayed cartilage maturation and mineralization. Osteoarthritis Cartilage. 2015 Apr;23(4):661-70

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
07/19/2016
MGI 6.04
The Jackson Laboratory