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MT001204

UniProt Annotations

Entry Information

Gene Name	aarF domain containing kinase 3
Protein Entry	ADCK3_HUMAN
UniProt ID	Q8NI60
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8NI60-1; Sequence=Displayed; Name=2; IsoId=Q8NI60-2; Sequence=VSP_022351; Note=No experimental confirmation available.; Name=3; IsoId=Q8NI60-3; Sequence=VSP_022353; Note=No experimental confirmation available.; Name=4; IsoId=Q8NI60-4; Sequence=VSP_022352; Note=No experimental confirmation available.;
Caution	It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr). {ECO:0000305}.
Disease	Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016]: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures. {ECO:0000269\|PubMed:18319072, ECO:0000269\|PubMed:18319074}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Putative protein kinase involved in the biosynthesis of coenzyme Q since it is able to rescue partially coenzyme Q6 biosynthesis of yeast COQ8 mutants. May be a chaperone-like protein essential for the proper conformation and functioning of protein complexes in the respiratory chain. {ECO:0000269\|PubMed:21296186}.
Induction	By p53/TP53.
Similarity	Belongs to the protein kinase superfamily. ADCK protein kinase family. {ECO:0000305}.
Similarity	Contains 1 protein kinase domain. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:11888884}.
Tissue Specificity	Widely expressed, with highest levels in adrenal gland, heart, pancreas, nasal mucosa, stomach, uterus and skeletal muscle. {ECO:0000269\|PubMed:24270420}.