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MT001335

UniProt Annotations

Entry Information

Gene Name	aarF domain containing kinase 4
Protein Entry	ADCK4_HUMAN
UniProt ID	Q96D53
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96D53-1; Sequence=Displayed; Name=2; IsoId=Q96D53-2; Sequence=VSP_022357; Note=No experimental confirmation available.;
Disease	Nephrotic syndrome 9 (NPHS9) [MIM:615573]: A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis. {ECO:0000269\|PubMed:24270420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	May play a role in CoQ10 (COQ10A and/or COQ10B) biosynthesis, which is required for podocyte migration. {ECO:0000269\|PubMed:24270420}.
Similarity	Belongs to the protein kinase superfamily. ADCK protein kinase family. {ECO:0000305}.
Similarity	Contains 1 protein kinase domain. {ECO:0000305}.
Subcellular Location	Mitochondrion membrane {ECO:0000269\|PubMed:24270420}; Single-pass membrane protein {ECO:0000269\|PubMed:24270420}. Cytoplasm, cytosol {ECO:0000269\|PubMed:24270420}. Cell membrane {ECO:0000269\|PubMed:24270420}.
Subunit	Interacts with COQ6 and COQ7. {ECO:0000269\|PubMed:24270420}.
Tissue Specificity	Widely expressed, including renal podocytes. {ECO:0000269\|PubMed:24270420}.