COQ8B
entrez
79934
canonical
uniprot
Q96D53
canonical
ensembl
ENSG00000123815
resolver
ensp
ENSP00000243583
resolver
ensp
ENSP00000315118
resolver
genesymbol
COQ8B
resolver
genesymbol_syn
ADCK4
resolver
hgnc
HGNC:19041
resolver
uniprot
Q8TAJ1
resolver
uniprot
Q9HA52
resolver
uniprot_entry
COQ8B_HUMAN
resolver
uniprot_sec
Q8TAJ1
resolver
uniprot_sec
Q9HA52
resolver
activity_regulation
ACTIVITY REGULATION: Autoinhibited by the N-terminal domain, containing the KxGQ motif, that completely occludes the typical substrate binding pocket. Nucleotide-binding relieves inhibition. {ECO:0000250|UniProtKB:Q8NI60}.
uniprot
proteins
amino_acid_sequence
MWLKVGGLLRGTGGQLGQTVGWPCGALGPGPHRWGPCGGSWAQKFYQDGPGRGLGEEDIRRAREARPRKTPRPQLSDRSRERKVPASRISRLANFGGLAVGLGLGVLAEMAKKSMPGGRLQSEGGSGLDSSPFLSEANAERIVQTLCTVRGAALKVGQMLSIQDNSFISPQLQHIFERVRQSADFMPRWQMLRVLEEELGRDWQAKVASLEEVPFAAASIGQVHQGLLRDGTEVAVKIQYPGIAQSIQSDVQNLLAVLKMSAALPAGLFAEQSLQALQQELAWECDYRREAACAQNFRQLLANDPFFRVPAVVKELCTTRVLGMELAGGVPLDQCQGLSQDLRNQICFQLLTLCLRELFEFRFMQTDPNWANFLYDASSHQVTLLDFGASREFGTEFTDHYIEVVKAAADGDRDCVLQKSRDLKFLTGFETKAFSDAHVEAVMILGEPFATQGPYDFGSGETARRIQDLIPVLLRHRLCPPPEETYALHRKLAGAFLACAHLRAHIACRDLFQDTYHRYWASRQPDAATAGSLPTKGDSWVDPS
uniprot
proteins
disease_involvement
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, ECO:0000269|PubMed:25967120}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.-.-
uniprot
proteins
function
FUNCTION: Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420, PubMed:36302899, PubMed:38425362). Its substrate specificity is still unclear: may act as a protein kinase that mediates phosphorylation of COQ3 (PubMed:38425362). According to other reports, acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway, as suggested by its ability to bind coenzyme Q lipid intermediates (By similarity). However, the small molecule kinase activity was not confirmed by another publication (PubMed:38425362). Required for podocyte migration (PubMed:24270420). {ECO:0000250|UniProtKB:Q8NI60, ECO:0000269|PubMed:24270420, ECO:0000269|PubMed:36302899, ECO:0000269|PubMed:38425362}.
uniprot
proteins
mass_dalton
60069
uniprot
proteins
pathway_participation
PATHWAY: Cofactor biosynthesis; ubiquinone biosynthesis. {ECO:0000269|PubMed:36302899, ECO:0000269|PubMed:38425362}.
uniprot
proteins
protein_family
ADCK protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24270420
uniprot
proteins
pubmed
25216398
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
25967120
uniprot
proteins
pubmed
27499296
uniprot
proteins
pubmed
33988507
uniprot
proteins
pubmed
36302899
uniprot
proteins
pubmed
38425362
uniprot
proteins
sequence_length
544
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|PubMed:24270420, ECO:0000269|PubMed:33988507}; Single-pass membrane protein {ECO:0000269|PubMed:24270420}. Cytoplasm, cytosol {ECO:0000269|PubMed:24270420}. Cell membrane {ECO:0000269|PubMed:24270420}.
uniprot
proteins
transmembrane_region
TRANSMEM 92..108; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins