BCS1L Gene

HGNC Family	Mitochondrial respiratory chain complex assembly factors, ATPases
Name	BC1 (ubiquinol-cytochrome c reductase) synthesis-like
Description	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]
Summary	{"type": "root", "children": [{"type": "t", "text": "<head>\n <meta charset=\"UTF-8\">\n <title>BCS1L Function Summary</title>\n </head>\n \n "}, {"type": "p", "children": [{"type": "t", "text": "\n BCS1L encodes a mitochondrial inner‐membrane AAA+ chaperone that plays a central role in the assembly and maturation of respiratory chain complex III. In particular, BCS1L facilitates the insertion of the catalytic Rieske iron‐sulfur protein into the developing complex III, ensuring that the complex attains both structural stability and catalytic functionality required for efficient electron transport and ATP synthesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n When BCS1L function is compromised by mutations, complex III assembly is disrupted. This results in the formation of a catalytically inactive and unstable complex III, leading to impaired oxidative phosphorylation, reduced ATP production, and secondary increases in reactive oxygen species. Such mitochondrial dysfunction underlies a broad spectrum of clinical phenotypes—from relatively mild disorders like Björnstad syndrome, presenting with pili torti and sensorineural hearing loss, to severe multisystem diseases such as GRACILE syndrome, which is characterized by fetal growth restriction, lactic acidosis, iron overload, and early death."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}, {"type": "fg_f", "ref": "3"}, {"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Moreover, emerging evidence indicates that alterations in BCS1L influence not only respiratory chain assembly but also mitochondrial morphology and interactions with other mitochondrial factors. Such disturbances further compromise cellular energy metabolism and may contribute to the heterogeneous pathophysiology observed in patients with mitochondrial diseases.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In summary, BCS1L is an essential assembly factor for complex III that ensures proper incorporation of the Rieske iron‐sulfur protein into the complex. Its dysfunction disrupts mitochondrial bioenergetics and leads to a range of clinical manifestations, emphasizing its critical role in maintaining normal cellular energy production.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Ilona Visapää, Vineta Fellman, Jouni Vesa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/342773"}], "href": "https://doi.org/10.1086/342773"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12215968"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12215968"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Erika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddm072"}], "href": "https://doi.org/10.1093/hmg/ddm072"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17403714"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17403714"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "María Morán, Lorena Marín-Buera, M Carmen Gil-Borlado, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21294"}], "href": "https://doi.org/10.1002/humu.21294"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20518024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20518024"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Per Levéen, Heike Kotarsky, Matthias Mörgelin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hepatology (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/hep.24031"}], "href": "https://doi.org/10.1002/hep.24031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21274865"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21274865"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Alberto Blázquez, Mari Carmen Gil-Borlado, María Morán, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuromuscul Disord (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.nmd.2008.11.016"}], "href": "https://doi.org/10.1016/j.nmd.2008.11.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19162478"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19162478"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Vineta Fellman, Susanna Lemmelä, Antti Sajantila, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-008-0284-0"}], "href": "https://doi.org/10.1007/s10038-008-0284-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18386115"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18386115"}]}]}]}
Synonyms	MC3DN1, GRACILE, HS.6719, FLNMS, H-BCS, h-BCS1, BJS, PTD, BCS1
Proteins	BCS1_HUMAN
NCBI Gene ID	617
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

BCS1L has 6,274 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 109 datasets.

Click the + buttons to view associations for BCS1L from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

BCS1L Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by BCS1L gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCS1L gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCS1L gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of BCS1L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of BCS1L gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of BCS1L gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of BCS1L gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BCS1L gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of BCS1L gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of BCS1L gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of BCS1L gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with BCS1L protein from the CCLE Cell Line Proteomics dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BCS1L gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of BCS1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of BCS1L gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with BCS1L gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of BCS1L gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing BCS1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing BCS1L protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing BCS1L protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing BCS1L protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with BCS1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with BCS1L protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with BCS1L gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with BCS1L gene/protein from the curated CTD Gene-Disease Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of BCS1L protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving BCS1L gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving BCS1L gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with BCS1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with BCS1L gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with BCS1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with BCS1L gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at BCS1L gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of BCS1L gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of BCS1L gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing BCS1L from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with BCS1L gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of BCS1L gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with BCS1L gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing BCS1L from the GeneSigDB Published Gene Signatures dataset.