MitoProteome Database

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MT001696

UniProt Annotations

Entry Information

Gene Name	C-x(9)-C motif containing 4
Protein Entry	CMC4_HUMAN
UniProt ID	P56277
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Short, Type A, p8 MTCP1; IsoId=P56277-1; Sequence=Displayed; Note=Shares a non-coding 5' exon with isoform 2 which is spliced to a different set of 3' exons encoding an unrelated protein.; Name=2; Synonyms=Long, Type B1, p13 MTCP1; IsoId=P56278-1; Sequence=External; Note=Shares a non-coding 5' exon with isoform 1 which is spliced to a different set of 3' exons encoding an unrelated protein.;
Caution	MTCP1 and MTCP1NB are transcribed from the same promoter and could be considered the same gene. {ECO:0000305}.
Disease	Note=Overexpressed in T-cell leukemia bearing a t(X;14) translocation.
Domain	The twin Cx9C motifs are involved in the recognition by the mitochondrial disulfide relay system. {ECO:0000250}.
Similarity	Belongs to the CMC4 family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:7784073}.
Tissue Specificity	Expressed in many tissues with a relatively high level in skeletal muscle.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/MTCP1ID89.html";