MitoProteome Database

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MT001308

UniProt Annotations

Entry Information

Gene Name	coiled-coil-helix-coiled-coil-helix domain containing 7
Protein Entry	CHCH7_HUMAN
UniProt ID	Q9BUK0
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q9BUK0-1; Sequence=Displayed; Name=2; IsoId=Q9BUK0-2; Sequence=VSP_038076; Name=3; IsoId=Q9BUK0-3; Sequence=VSP_038076, VSP_038077; Name=4; IsoId=Q9BUK0-4; Sequence=VSP_046698; Note=Gene prediction based on EST data.; Name=5; IsoId=Q9BUK0-5; Sequence=VSP_038077;
Disease	Note=A chromosomal aberration involving CHCHD7 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(6;8)(p21.3-22;q13) with PLAG1.
Sequence Caution	Sequence=EAW86776.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the CHCHD7 family. {ECO:0000305}.
Similarity	Contains 1 CHCH domain. {ECO:0000305}.
Subcellular Location	Mitochondrion intermembrane space {ECO:0000305}.
Subunit	Monomer. {ECO:0000269\|PubMed:22842048}.