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MT001533

UniProt Annotations

Entry Information

Gene Name	coiled-coil-helix-coiled-coil-helix domain containing 4
Protein Entry	MIA40_HUMAN
UniProt ID	Q8N4Q1
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8N4Q1-1; Sequence=Displayed; Name=2; IsoId=Q8N4Q1-2; Sequence=VSP_018433; Note=No experimental confirmation available.;
Domain	The CHCH domain contains a conserved twin Cys-X(9)-Cys motif which is required for import and stability of MIA40 in mitochondria. {ECO:0000305}.
Function	Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). 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. Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system. {ECO:0000269\|PubMed:16185709, ECO:0000269\|PubMed:19182799, ECO:0000269\|PubMed:21059946, ECO:0000269\|PubMed:23186364}.
Ptm	Forms intrachain disulfide bridges, but exists in different redox states.
Similarity	Contains 1 CHCH domain. {ECO:0000305}.
Subcellular Location	Mitochondrion intermembrane space {ECO:0000269\|PubMed:16185709, ECO:0000269\|PubMed:23186364}.
Subunit	Monomer. Can form homooligomers. Interacts with GFER and forms transient disulfide bonds with GFER. {ECO:0000269\|PubMed:16185709, ECO:0000269\|PubMed:19182799, ECO:0000269\|PubMed:21059946, ECO:0000269\|PubMed:23186364}.
Tissue Specificity	Expressed in all tissues tested, suggesting an ubiquitous expression. {ECO:0000269\|PubMed:16185709}.