ID:MIA40_HUMAN DESCRIPTION: RecName: Full=Mitochondrial intermembrane space import and assembly protein 40; AltName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 4; FUNCTION: Required for the import and folding of small cysteine- containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Probably acts by forming a redox cycle with GFER/ERV1 that involves a disulfide relay system. Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of 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 (Probable). SUBUNIT: Forms homooligomer. SUBCELLULAR LOCATION: Mitochondrion intermembrane space. TISSUE SPECIFICITY: Expressed in all tissues tested, suggesting an ubiquitous expression. DOMAIN: The CHCH domain contains a conserved twin Cys-X(9)-Cys motif which is required for import and stability of MIA40 in mitochondria (Probable). PTM: Forms intrachain disulfide bridges, but exists in different redox states. SIMILARITY: Contains 1 CHCH domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8N4Q1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005515 protein binding GO:0015035 protein disulfide oxidoreductase activity GO:0016491 oxidoreductase activity
Biological Process: GO:0015031 protein transport GO:0018171 peptidyl-cysteine oxidation GO:0022417 protein maturation by protein folding GO:0045041 protein import into mitochondrial intermembrane space GO:0051084 'de novo' posttranslational protein folding GO:0055114 oxidation-reduction process
Cellular Component: GO:0005739 mitochondrion GO:0005758 mitochondrial intermembrane space
Descriptions from all associated GenBank mRNAs
BC017082 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4, mRNA (cDNA clone MGC:9700 IMAGE:3848900), complete cds. BC033775 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4, mRNA (cDNA clone MGC:45435 IMAGE:4538841), complete cds. AK056271 - Homo sapiens cDNA FLJ31709 fis, clone NT2RI2006345. AK290764 - Homo sapiens cDNA FLJ76551 complete cds, highly similar to Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4, mRNA. KJ895480 - Synthetic construct Homo sapiens clone ccsbBroadEn_04874 CHCHD4 gene, encodes complete protein. JD237507 - Sequence 218531 from Patent EP1572962. JD221746 - Sequence 202770 from Patent EP1572962. JD543579 - Sequence 524603 from Patent EP1572962. JD445231 - Sequence 426255 from Patent EP1572962. JD238536 - Sequence 219560 from Patent EP1572962. JD119751 - Sequence 100775 from Patent EP1572962. JD296306 - Sequence 277330 from Patent EP1572962. JD358318 - Sequence 339342 from Patent EP1572962. JD557832 - Sequence 538856 from Patent EP1572962. JD302584 - Sequence 283608 from Patent EP1572962. JD295823 - Sequence 276847 from Patent EP1572962. JD379414 - Sequence 360438 from Patent EP1572962. JD143653 - Sequence 124677 from Patent EP1572962. JD341178 - Sequence 322202 from Patent EP1572962. JD486565 - Sequence 467589 from Patent EP1572962. JD373559 - Sequence 354583 from Patent EP1572962. JD045909 - Sequence 26933 from Patent EP1572962. JD056236 - Sequence 37260 from Patent EP1572962. JD339645 - Sequence 320669 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q8N4Q1 (Reactome details) participates in the following event(s):
R-HSA-1307802 MIA40:ERV1 (CHCHD4:GFER) oxidizes cysteine residues to cystine disulfide bonds R-HSA-1268020 Mitochondrial protein import R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
