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Aliases for BCS1L Gene

Aliases for BCS1L Gene

  • BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone 2 3 5
  • BC1 (Ubiquinol-Cytochrome C Reductase) Synthesis-Like 2 3
  • BCS1-Like Protein 3 4
  • H-BCS1 3 4
  • BCS1 3 4
  • 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
  • GRACILE 3
  • Hs.6719 3
  • MC3DN1 3
  • FLNMS 3
  • H-BCS 3
  • BCS 3
  • BJS 3
  • PTD 3

External Ids for BCS1L Gene

Previous GeneCards Identifiers for BCS1L Gene

  • GC02P217540
  • GC02P218245
  • GC02P219488
  • GC02P219727
  • GC02P219726
  • GC02P219349
  • GC02P219231
  • GC02P219523
  • GC02P211377

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. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]

GeneCards Summary for BCS1L Gene

BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone) is a Protein Coding gene. Diseases associated with BCS1L include Gracile Syndrome and Bjornstad Syndrome. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. GO annotations related to this gene include RNA binding and RNA helicase 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

Regulatory Elements for BCS1L Gene

Enhancers for BCS1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F217845 1.8 FANTOM5 Ensembl ENCODE 21.7 -806.0 -806002 15.3 HDGF PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 LOC105373876 STK36 AAMP LOC105373878 BCS1L TNS1 CNOT9 ENSG00000231597 ENSG00000227021 RNF25
GH02F218393 1.9 FANTOM5 Ensembl ENCODE 20.2 -257.6 -257568 14.8 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 AAMP CNOT9 BCS1L STK36 MIR6513 TMBIM1 PNKD CYP27A1 RNF25 CDK5R2
GH02F218566 1.6 FANTOM5 ENCODE 20.6 -89.4 -89447 4.7 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 CNOT9 PLCD4 BCS1L STK36 USP37 SLC23A3 NHEJ1 AAMP ENSG00000269068 ZNF142
GH02F218908 1.8 FANTOM5 Ensembl ENCODE 10.8 +250.8 250835 2.4 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF143 CNOT9 STK36 AAMP CDK5R2 ENSG00000235024 RNF25 BCS1L LINC00608 FEV CRYBA2
GH02F218309 1.7 FANTOM5 Ensembl ENCODE 11.4 -346.7 -346718 4.3 HDGF MLX CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ENSG00000261338 AAMP PNKD CNOT9 NHEJ1 USP37 SLC23A3 SLC11A1 BCS1L ANKZF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCS1L on UCSC Golden Path with GeneCards custom track

Promoters for BCS1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000607678 736 2201 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for BCS1L Gene

Chromosome:
2
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

Genes around BCS1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCS1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for BCS1L Gene

  • Ubiquitination at Lys 145, Lys 213, and Lys 300
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BCS1L Gene

Domains & Families for BCS1L Gene

Suggested Antigen Peptide Sequences for BCS1L Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y276

UniProtKB/Swiss-Prot:

BCS1_HUMAN :
  • Belongs to the AAA ATPase family. BCS1 subfamily.
Family:
  • Belongs to the AAA ATPase family. BCS1 subfamily.
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: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

Human Phenotype Ontology for BCS1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BCS1L Gene

MGI Knock Outs for BCS1L:

Animal Model Products

miRNA for BCS1L Gene

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCS1L gene
Compartment Confidence
mitochondrion 5
nucleus 3
extracellular 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BCS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 18628306
GO:0005743 mitochondrial inner membrane IEA --
GO:0005750 mitochondrial respiratory chain complex III TAS 9878253
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with BCS1L: view

Pathways & Interactions 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 IEA,IMP 18628306
genes like me logo Genes that share ontologies with BCS1L: view

No data available for SIGNOR curated interactions for BCS1L Gene

Drugs & Compounds for BCS1L Gene

(1) Drugs for BCS1L Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for BCS1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for BCS1L Gene

Protein differential expression in normal tissues from HIPED for BCS1L Gene

This gene is overexpressed in Heart (7.0), Salivary gland (6.6), and Bone (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BCS1L Gene



Protein tissue co-expression partners for BCS1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BCS1L Gene:

BCS1L

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 expression patterns with BCS1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BCS1L Gene

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 34 35
  • 96.68 (n)
dog
(Canis familiaris)
Mammalia BCS1L 34 35
  • 92.98 (n)
cow
(Bos Taurus)
Mammalia BCS1L 34 35
  • 92.12 (n)
mouse
(Mus musculus)
Mammalia Bcs1l 34 16 35
  • 89.31 (n)
rat
(Rattus norvegicus)
Mammalia Bcs1l 34
  • 88.6 (n)
oppossum
(Monodelphis domestica)
Mammalia BCS1L 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCS1L 34 35
  • 76.82 (n)
lizard
(Anolis carolinensis)
Reptilia BCS1L 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcs1l 34
  • 72.8 (n)
Str.11802 34
African clawed frog
(Xenopus laevis)
Amphibia bcs1l-prov 34
zebrafish
(Danio rerio)
Actinopterygii bcs1l 34 35
  • 69.78 (n)
zgc56205 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13409 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004266 34
  • 61.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4908 36 34 35
  • 60.19 (n)
worm
(Caenorhabditis elegans)
Secernentea bcs-1 34 35
  • 52.53 (n)
F54C9.6 36
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR200C 34
  • 57.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BCS1 34 35 37
  • 53.66 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E02487g 34
  • 51.45 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC644.07 34
  • 50.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8680 34
Species where no ortholog for BCS1L was found in the sources mined by GeneCards:
  • 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

(1) 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
rs121908571 Pathogenic, Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] 218,662,620(+) GCAGA(A/G)CCTGG nc-transcript-variant, reference, missense
rs121908572 Pathogenic, Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] 218,661,283(+) TGTCC(C/T)CAGCC intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs121908573 Pathogenic, Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] 218,661,762(+) AGCTC(C/G)AGAGC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs121908574 Pathogenic, Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] 218,663,183(+) AGTAC(A/G)TGGGC nc-transcript-variant, reference, missense
rs121908575 Pathogenic, Mitochondrial complex III deficiency, nuclear 1 (MC3DN1) [MIM:124000] 218,661,120(+) TCCGG(C/G/T)GCCAT intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime

Variation tolerance for BCS1L Gene

Residual Variation Intolerance Score: 57.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.93; 67.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BCS1L Gene

Human Gene Mutation Database (HGMD)
BCS1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCS1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BCS1L Gene

Disorders for BCS1L Gene

MalaCards: The human disease database

(18) MalaCards diseases for BCS1L Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gracile syndrome
  • fellman syndrome
bjornstad syndrome
  • bjs
mitochondrial complex iii deficiency, nuclear type 1
  • mitochondrial complex iii deficiency nuclear type 1
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards
Search BCS1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BCS1_HUMAN
  • 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.
  • 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.

Relevant External Links for BCS1L

Genetic Association Database (GAD)
BCS1L
Human Genome Epidemiology (HuGE) Navigator
BCS1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCS1L
genes like me logo Genes that share disorders with BCS1L: view

No data available for Genatlas for BCS1L Gene

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 22 64
  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 22 64
  3. 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 22 64
  4. 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 22 64
  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 64

Products for BCS1L Gene

Sources for BCS1L Gene

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