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Bcs1l Gene Detail
Summary
  • Symbol
    Bcs1l
  • Name
    BCS1-like (yeast)
  • Synonyms
    9130022O19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914071
    NCBI Gene: 66821
  • Gene Overview
    MyGene.info: BCS1L
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr1:74588289-74592443 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4155 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 38.54 cM, cytoband C3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    BCS1L, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BCS1L, BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BCS, BCS1, BJS, FLNMS, GRACILE, h-BCS, h-BCS1, Hs.6719, MC3DN1, PTD
  • Links
    NCBI Gene ID: 617
    neXtProt AC: NX_Q9Y276
    UniProt: Q9Y276

  • Chr Location
    2q35; chr2:218659656-218663443 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 3193
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: BCS1L
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with human BCS1L associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 1 allele in 1 genetic background
    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
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.
Mice homozygous for a knock-in allele exhibit reduced growth, defects in the liver, kidney and testes, and mitochondrial hepatopathy with premature death.
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000021745 VEGA Gene Model | MGI Sequence Detail 4155 C57BL/6J ±  kb
    transcript OTTMUST00000051602 VEGA | MGI Sequence Detail 1679 Not Applicable  
    polypeptide OTTMUSP00000024322 VEGA | MGI Sequence Detail 418 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      43 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 37
      cDNA 37

      Microarray probesets 3
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 17
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:251032 Davoudi M, et al., COX7A2L/SCAFI and Pre-Complex III Modify Respiratory Chain Supercomplex Formation in Different Mouse Strains with a Bcs1l Mutation. PLoS One. 2016;11(12):e0168774

    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
    09/18/2018
    MGI 6.12
    The Jackson Laboratory