Property Summary

NCBI Gene PubMed Count 30
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 8.6e-04
ovarian cancer 1.500 6.6e-06

 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.
18386115 assessed whether 232A-->G or other BCS1L mutations were present in infants (n = 21) of Finnish origin with severe, lethal disease compatible with mitochondrial disorder
17403714 a function of BCS1L is to promote the maturation of complex III and the incorporation of the Rieske iron-sulfur protein into the nascent complex. Defective BCS1L leads to the formation of a catalytically inactive, structurally unstable complex III.
12215968 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

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.
19508421 2009 Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
19389488 2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.
19162478 2009 Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
18628306 2008 Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L.
18386115 2008 Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17403714 2007 Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.
17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12910490 2003 Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12215968 2002 GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
11528392 2001 A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
9878253 1998 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.
9792866 1998 Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37.
9545407 1998 The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8599931 1996 Internal targeting signal of the BCS1 protein: a novel mechanism of import into mitochondria.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.