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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.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
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
15
Cytoband
q15.1
Chromosome location (bp)
41387218 - 41409403
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
As part of the MCIA complex, involved in the assembly of the mitochondrial complex I....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chaperone
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]...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 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.
Q9Y375 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial
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A0A024R9L0 [Target identity:100%; Query identity:100%] Complex I intermediate-associated protein 30, mitochondrial
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes 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:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0010257[NADH dehydrogenase complex assembly] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0051082[unfolded protein binding] GO:0051131[chaperone-mediated protein complex assembly] GO:0065003[protein-containing complex assembly]
H0YNN4 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial
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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)
Q9Y375 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial
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H0YNB7 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial A0A024R9L0 [Target identity:100%; Query identity:100%] Complex I intermediate-associated protein 30, mitochondrial
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005743[mitochondrial inner membrane] GO:0005747[mitochondrial respiratory chain complex I] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006120[mitochondrial electron transport, NADH to ubiquinone] GO:0010257[NADH dehydrogenase complex assembly] GO:0032981[mitochondrial respiratory chain complex I assembly] GO:0051082[unfolded protein binding] GO:0051131[chaperone-mediated protein complex assembly] GO:0065003[protein-containing complex assembly]
A0A7I2V4I7 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial
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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)
A0A7I2YQA4 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial
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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)
A0A7I2V4I7 [Direct mapping] Complex I intermediate-associated protein 30, mitochondrial
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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
