We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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.
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
3
Cytoband
p25.1
Chromosome location (bp)
14112077 - 14124870
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Central component of a redox-sensitive mitochondrial intermembrane space import machinery which is required for the biogenesis of respiratory chain complexes 1. Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17, COX19, MICU1 and COA7 2,3,4,5,6,7,8. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Required for the import of COA7 in the IMS 9. Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS 10,11,12,13. Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system 14. Mediates formation of disulfide bond in MICU1 in the IMS, promoting formation of the MICU1-MICU2 heterodimer that regulates mitochondrial calcium uptake 15....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005758[mitochondrial intermembrane space] GO:0015031[protein transport] GO:0015035[protein-disulfide reductase activity] GO:0016491[oxidoreductase activity] GO:0016671[oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor] GO:0018171[peptidyl-cysteine oxidation] GO:0022417[protein maturation by protein folding] GO:0033108[mitochondrial respiratory chain complex assembly] GO:0045041[protein import into mitochondrial intermembrane space] GO:0051084['de novo' post-translational protein folding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005758[mitochondrial intermembrane space] GO:0015031[protein transport] GO:0015035[protein-disulfide reductase activity] GO:0016491[oxidoreductase activity] GO:0016671[oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor] GO:0018171[peptidyl-cysteine oxidation] GO:0022417[protein maturation by protein folding] GO:0033108[mitochondrial respiratory chain complex assembly] GO:0045041[protein import into mitochondrial intermembrane space] GO:0051084['de novo' post-translational protein folding]
The Human Protein Atlas project is funded
