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Aliases for BCS1L Gene

Aliases for BCS1L Gene

  • BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like 2 3
  • BCS1-Like Protein 3 4
  • GRACILE 3 6
  • MC3DN1 3 6
  • H-BCS1 3 4
  • FLNMS 3 6
  • BCS1 3 4
  • BJS 3 6
  • PTD 3 6
  • Mitochondrial Complex III Assembly 3
  • Mitochondrial Chaperone BCS1 3
  • BCS1 (Yeast Homolog)-Like 2
  • BCS1-Like (S. Cerevisiae) 2
  • Bjornstad Syndrome 2
  • BCS1-Like (Yeast) 2
  • GRACILE Syndrome 2
  • Hs.6719 3
  • H-BCS 3
  • BCS 3

External Ids for BCS1L Gene

Summaries for BCS1L Gene

Entrez Gene Summary for BCS1L Gene

  • This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Five alternatively spliced transcripts encoding the same protein have been described. [provided by RefSeq, Mar 2012]

GeneCards Summary for BCS1L Gene

BCS1L (BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like) is a Protein Coding gene. Diseases associated with BCS1L include bjornstad syndrome and breast pericanalicular fibroadenoma. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. GO annotations related to this gene include nucleoside-triphosphatase activity.

UniProtKB/Swiss-Prot for BCS1L Gene

  • Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.

Gene Wiki entry for BCS1L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCS1L Gene

Genomics for BCS1L Gene

Genomic Location for BCS1L Gene

Start:
218,658,764 bp from pter
End:
218,663,443 bp from pter
Size:
4,680 bases
Orientation:
Plus strand

Genomic View for BCS1L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BCS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCS1L Gene

Regulatory Elements for BCS1L Gene

Proteins for BCS1L Gene

  • Protein details for BCS1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y276-BCS1_HUMAN
    Recommended name:
    Mitochondrial chaperone BCS1
    Protein Accession:
    Q9Y276
    Secondary Accessions:
    • B3KTW9
    • Q7Z2V7

    Protein attributes for BCS1L Gene

    Size:
    419 amino acids
    Molecular mass:
    47534 Da
    Quaternary structure:
    • Interacts with LETM1.

neXtProt entry for BCS1L Gene

Proteomics data for BCS1L Gene at MOPED

Post-translational modifications for BCS1L Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys145, Lys213, and Lys300

No data available for DME Specific Peptides for BCS1L Gene

Domains for BCS1L Gene

Gene Families for BCS1L Gene

HGNC:
  • AATP :ATPases / AAA-type
  • MITOAF :Mitochondrial respiratory chain complex assembly factors

Protein Domains for BCS1L Gene

UniProtKB/Swiss-Prot:

BCS1_HUMAN
Family:
  • Belongs to the AAA ATPase family. BCS1 subfamily.:
    • Q9Y276
genes like me logo Genes that share domains with BCS1L: view

Function for BCS1L Gene

Molecular function for BCS1L Gene

GENATLAS Biochemistry: yeast BCS1,inner mitochondrial membrane,involved in the biogenesis of mitochondrial complex III,homolog
UniProtKB/Swiss-Prot Function: Chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Plays an important role in the maintenance of mitochondrial tubular networks, respiratory chain assembly and formation of the LETM1 complex.

Gene Ontology (GO) - Molecular Function for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding --
GO:0003724 RNA helicase activity --
GO:0005515 protein binding IPI 18628306
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with BCS1L: view
genes like me logo Genes that share phenotypes with BCS1L: view

miRNA for BCS1L Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for BCS1L Gene

Localization for BCS1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCS1L Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BCS1L Gene COMPARTMENTS Subcellular localization image for BCS1L gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 1
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 18628306
GO:0005750 mitochondrial respiratory chain complex III TAS 9878253
genes like me logo Genes that share ontologies with BCS1L: view

Pathways for BCS1L Gene

genes like me logo Genes that share pathways with BCS1L: view

Pathways by source for BCS1L Gene

2 Reactome pathways for BCS1L Gene

Gene Ontology (GO) - Biological Process for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007005 mitochondrion organization IMP 18628306
GO:0032981 mitochondrial respiratory chain complex I assembly IMP 18628306
GO:0033617 mitochondrial respiratory chain complex IV assembly IMP 18628306
GO:0034551 mitochondrial respiratory chain complex III assembly IMP 18628306
genes like me logo Genes that share ontologies with BCS1L: view

Compounds for BCS1L Gene

(1) HMDB Compounds for BCS1L Gene

Compound Synonyms Cas Number PubMed IDs
Iron
  • Armco iron
7439-89-6

(1) Novoseek inferred chemical compound relationships for BCS1L Gene

Compound -log(P) Hits PubMed IDs
iron 39.1 3
genes like me logo Genes that share compounds with BCS1L: view

Transcripts for BCS1L Gene

Unigene Clusters for BCS1L Gene

BC1 (ubiquinol-cytochrome c reductase) synthesis-like:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BCS1L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8 ^ 9a ·
SP1: - - - - - - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - - - - - - - - -
SP5: - -
SP6: - -
SP7:
SP8:
SP9: - - - - - - - - - - - - -
SP10: - - - - - - -
SP11: - - - - - -
SP12: -
SP13: - - -
SP14: -
SP15: - - - -

ExUns: 9b · 9c ^ 10a · 10b ^ 11a · 11b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for BCS1L Gene

GeneLoc Exon Structure for
BCS1L
ECgene alternative splicing isoforms for
BCS1L

Expression for BCS1L Gene

mRNA expression in normal human tissues for BCS1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BCS1L Gene

SOURCE GeneReport for Unigene cluster for BCS1L Gene Hs.471401

mRNA Expression by UniProt/SwissProt for BCS1L Gene

Q9Y276-BCS1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with BCS1L: view

Orthologs for BCS1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for BCS1L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BCS1L 36
  • 96.68 (n)
  • 96.36 (a)
BCS1L 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCS1L 36
  • 92.12 (n)
  • 94.03 (a)
BCS1L 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCS1L 36
  • 92.98 (n)
  • 96.41 (a)
BCS1L 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcs1l 36
  • 89.31 (n)
  • 94.02 (a)
Bcs1l 16
Bcs1l 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BCS1L 37
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcs1l 36
  • 88.6 (n)
  • 94.98 (a)
chicken
(Gallus gallus)
Aves BCS1L 36
  • 76.82 (n)
  • 79.62 (a)
BCS1L 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCS1L 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bcs1l-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia bcs1l 36
  • 72.8 (n)
  • 78.93 (a)
Str.11802 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13409 36
zebrafish
(Danio rerio)
Actinopterygii bcs1l 36
  • 69.78 (n)
  • 77.03 (a)
bcs1l 37
  • 77 (a)
OneToOne
zgc56205 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004266 36
  • 61.79 (n)
  • 63.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4908 36
  • 60.19 (n)
  • 60.91 (a)
CG4908 37
  • 59 (a)
OneToOne
CG4908 38
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea bcs-1 36
  • 52.53 (n)
  • 49.64 (a)
bcs-1 37
  • 47 (a)
OneToOne
F54C9.6 38
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR200C 36
  • 57.22 (n)
  • 50.74 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCS1 36
  • 53.66 (n)
  • 50.86 (a)
BCS1 37
  • 45 (a)
OneToOne
BCS1 39
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02487g 36
  • 51.45 (n)
  • 51.61 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC644.07 36
  • 50.87 (n)
  • 47.13 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8680 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToOne
Species with no ortholog for BCS1L:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BCS1L Gene

ENSEMBL:
Gene Tree for BCS1L (if available)
TreeFam:
Gene Tree for BCS1L (if available)

Paralogs for BCS1L Gene

Selected SIMAP similar genes for BCS1L Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with BCS1L: view

No data available for Paralogs for BCS1L Gene

Variants for BCS1L Gene

Sequence variations from dbSNP and Humsavar for BCS1L Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs2303561 -- 218,662,282(+) TCTCT(C/T)AACTT intron-variant
rs33946522 Benign 218,662,989(+) ACCAA(C/G/T)CACGT reference, synonymous-codon, nc-transcript-variant
rs34933485 -- 218,662,686(+) AAGTG(-/A)AGGGG intron-variant
rs35843327 Benign 218,663,143(+) GACCC(C/T)GCCCT synonymous-codon, reference, nc-transcript-variant
rs36085075 -- 218,662,016(+) TTGGT(C/T)TCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BCS1L Gene

Variant ID Type Subtype PubMed ID
nsv875862 CNV Gain 21882294

Relevant External Links for BCS1L Gene

HapMap Linkage Disequilibrium report
BCS1L
Human Gene Mutation Database (HGMD)
BCS1L

Disorders for BCS1L Gene

(4) OMIM Diseases for BCS1L Gene (603647)

UniProtKB/Swiss-Prot

BCS1_HUMAN
  • GRACILE syndrome (GRACILE) [MIM:603358]: GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. {ECO:0000269 PubMed:12215968, ECO:0000269 PubMed:17314340}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269 PubMed:11528392, ECO:0000269 PubMed:12910490, ECO:0000269 PubMed:17314340, ECO:0000269 PubMed:17403714, ECO:0000269 PubMed:19162478, ECO:0000269 PubMed:22991165}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Bjoernstad syndrome (BJS) [MIM:262000]: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle. {ECO:0000269 PubMed:17314340, ECO:0000269 PubMed:24172246}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for BCS1L Gene

(6) Novoseek inferred disease relationships for BCS1L Gene

Disease -log(P) Hits PubMed IDs
gracile syndrome 98.9 7
mitochondrial diseases 70.7 2
iron overload 64.3 1
liver failure 56.4 1
encephalopathy 43.3 2

Relevant External Links for BCS1L

Genetic Association Database (GAD)
BCS1L
Human Genome Epidemiology (HuGE) Navigator
BCS1L
genes like me logo Genes that share disorders with BCS1L: view

Publications for BCS1L Gene

  1. Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome. (PMID: 17314340) Hinson J.T. … Seidman C.E. (N. Engl. J. Med. 2007) 2 3 4 23
  2. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. (PMID: 17403714) Fernandez-Vizarra E. … Zeviani M. (Hum. Mol. Genet. 2007) 3 4 23
  3. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. (PMID: 11528392) de Lonlay P. … Roetig A. (Nat. Genet. 2001) 3 4 23
  4. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. (PMID: 12215968) Visapaeae I. … Peltonen L. (Am. J. Hum. Genet. 2002) 3 4 23
  5. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. (PMID: 9878253) Petruzzella V. … Zeviani M. (Genomics 1998) 2 3 4

Products for BCS1L Gene

Sources for BCS1L Gene

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