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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
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
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, Hs.6719, MC3DN1, PTD
  • Links
    NCBI Gene ID: 617
    neXtProt AC: NX_Q9Y276

  • Chr Location
    2q33; chr2:218659656-218663443 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3193
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: BCS1L
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Bcs1l mouse models; 4 with human BCS1L associations

Human Disease Mouse Models
       Gracile Syndrome   OMIM: 603358 View 1 model
       Bjornstad Syndrome; BJS   OMIM: 262000
Leigh Syndrome; LS   OMIM: 256000
Mitochondrial Complex III Deficiency, Nuclear Type 1; MC3DN1   OMIM: 124000
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotypes from 1 allele in 1 genetic background
    16 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Chemically induced (other)
    1
  • Gene trapped
    2
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    3 involving Bcs1l
  • Incidental Mutations
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
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
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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
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 OTTMUST00000051601 VEGA | MGI Sequence Detail 1488 Not Applicable  
polypeptide OTTMUSP00000024321 VEGA | MGI Sequence Detail 418 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    43 from dbSNP Build 137
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000004713 mitochondrial chaperone BCS1
  • InterPro Domains
    IPR003593 AAA+ ATPase domain
    IPR003960 ATPase, AAA-type, conserved site
    IPR003959 ATPase, AAA-type, core
    IPR014851 BCS1, N-terminal
    IPR027243 Mitochondrial chaperone BCS1/plant AAA ATPases
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
Molecular
Reagents
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  • All nucleic 36
    cDNA 36

    Microarray probesets 3
References
more
  • Summaries
    All 29
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 5
    Phenotypes 16
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:212727 Davoudi M, et al., Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency. PLoS One. 2014;9(1):e86767

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory