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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q35
Chromosome location (bp)
218658764 - 218663443
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
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....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chaperone
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Potential drug targets Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000166[nucleotide binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005750[mitochondrial respiratory chain complex III] GO:0007005[mitochondrion organization] GO:0016020[membrane] GO:0016887[ATP hydrolysis activity] GO:0032979[protein insertion into mitochondrial inner membrane from matrix] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0033617[mitochondrial cytochrome c oxidase assembly] GO:0034551[mitochondrial respiratory chain complex III assembly]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
