Property Summary

NCBI Gene PubMed Count 30
Grant Count 93
R01 Count 36
Funding $15,226,330.6
PubMed Score 900.54
PubTator Score 100.24

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
lung cancer 1.100 0.001
ovarian cancer 1.500 0.000

Synonym

Accession Q9Y276 B3KTW9 Q7Z2V7 h-BCS1
Symbols BCS
BJS
PTD
BCS1
FLNMS
h-BCS
MC3DN1
h-BCS1
GRACILE
Hs.6719

Gene

 GO Function (1)

Gene RIF (13)

PMID Text
25895478 Exome sequencing revealed novel BCS1L mutations in two siblings with Bjornstad syndrome characterized by hearing loss and hypotrichosis.
25239759 Extensive statistical and cluster analyses revealed a protein profile characteristic for the BCS1L mutant fibroblasts that included alterations in energy metabolism, cell signaling and gene expression regulation, cytoskeleton formation and maintenance.
24172246 This region encompasses the BCS1L gene.
22991165 A novel behavioral and psychiatric phenotype associated with a p.Gly129Arg BCS1L mutation.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20518024 These results provide new insights into the role of pathogenic BCS1L mutations in mitochondrial function and dynamics.
19508421 mitochondrial complex III deficiency caused by mutations in the BCS1L gene
19389488 The g.1181A>G mutation generated an alternative splicing site in the BCS1L transcript, causing a 19-nucleotides deletion in its 5'UTR region and Complex III deficiency.
19162478 The severity of the complex III enzyme defect correlated with decreased amounts of BCS1L and respiratory chain complex III. This supports a pathogenic role for the novel BCS1L mutation in a patient with a singular clinical phenotype.
18628306 BCS1L stimulates the assembly of the LETM1 complex. BCS1L knockdown caused disassembly of the respiratory chains as well as LETM1 downregulation and induced distinct changes in mitochondrial morphology.
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AA Sequence

MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFRRHYMITLEVPARDRSYAWLLSWLTRH      1 - 70
STRTQHLSVETSYLQHESGRISTKFEFVPSPGNHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTAL     71 - 140
GTDRKVFFNILEEARELALQQEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADRIVRDVQEFID    141 - 210
NPKWYTDRGIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQSLVL    211 - 280
LEDVDAAFLSRDLAVENPVKYQGLGRLTFSGLLNALDGVASTEARIVFMTTNHVDRLDPALIRPGRVDLK    281 - 350
EYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQISPAQVQGYFMLYKNDPVGAIHNAESLRR     351 - 419
//

Text Mined References (34)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25895478 2015 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
25239759 2015 Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.
24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22991165 2013 Clinical and biochemical features associated with BCS1L mutation.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20518024 2010 Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
More...