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MT001433

UniProt Annotations

Entry Information

Gene Name	centrosomal protein 89kDa
Protein Entry	CEP89_HUMAN
UniProt ID	Q96ST8
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96ST8-1; Sequence=Displayed; Name=2; IsoId=Q96ST8-2; Sequence=VSP_039181; Note=No experimental confirmation available.; Name=3; IsoId=Q96ST8-3; Sequence=VSP_039182, VSP_039183; Note=No experimental confirmation available.;
Disease	Note=Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness. {ECO:0000269\|PubMed:23575228}.
Function	Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. {ECO:0000269\|PubMed:23348840, ECO:0000269\|PubMed:23575228}.
Subcellular Location	Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Mitochondrion intermembrane space. Note=Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane.