MitoProteome Database

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MT001264

UniProt Annotations

Entry Information

Gene Name	coiled-coil domain containing 136
Protein Entry	CC136_HUMAN
UniProt ID	Q96JN2
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q96JN2-1; Sequence=Displayed; Name=2; IsoId=Q96JN2-2; Sequence=VSP_027843, VSP_027844; Note=No experimental confirmation available.; Name=3; IsoId=Q96JN2-3; Sequence=VSP_027840, VSP_027841, VSP_027842; Note=No experimental confirmation available.; Name=4; IsoId=Q96JN2-4; Sequence=VSP_027845; Note=No experimental confirmation available.;
Miscellaneous	Restriction fragment length polymorphisms (RFLPs) in gastric cancer showed loss of 5 kb fragment in comparison with the corresponding normal tissue.
Sequence Caution	Sequence=AF156971; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=BAB14590.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB47422.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Subcellular Location	Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
Tissue Specificity	Expressed in gastric tissues. Down-regulated in gastric cancer. {ECO:0000269\|PubMed:15112360}.