TAG for ADCK3

Gene content

Symbol

ADCK3 (-- by HUGO)

Name

aarF domain containing kinase 3 (Previous names: chaperone-ABC1 (activity of bc1 complex, S.pombe)-l

Category

Alias

EC 2.7.11.-
EC 2.7.11
aarF
domain
containing
kinase
chaperone-ABC1
(activity
of
bc1
S.pombe)-like
CABC1
chaperone
activity
of
bc1
mitochondrial
COQ8
ABC1
activity
of
bc1
complex
homolog
SCAR9
coenzyme
Q8
homolog
aarF
domain-containing
protein
kinase
Chaperone-ABC1-like
ARCA2
ABC1
activity
of
bc1
complex
homolog
(S.
pombe)
ABC1
activity
of
bc1
complex
like
(S.

Cytogenetic band

NCBI: 1q42.13 Ensembl: 1q42.13

Protein information

ADCK3_HUMAN

Size: 647 amino acids

Mass: 71950 Da

Subcellular location: Mitochondrion Caution: It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) Secondary accessions: Q5T7A5 Q63HK0 Q8NCJ6 Q9HBQ1 Q9NQ67 Alternative splicing: 4 isoforms: Q8NI60-1 Q8NI60-2 Q8NI6

Tissue specificity: Ubiquitously expressed with a relatively greater abundance in heart and skeletal muscle

Similarity:

Belongs to the protein kinase superfamily. ADCK protein kinase family

Contains 1 protein kinase domain

Protein Domain/Family
Source	ID	Domain	Name	Type
InterPro	IPR004147	ABC_1	ABC-1	Domain
InterPro	IPR011009	Kinase-like_dom	Protein kinase-like	Domain
Blocks	IPB004147	ABC1 protein	ABC1 protein

Disorder & Mutation
Source	Disease
SWISS-PROT	Defects in ADCK3 are a cause of coenzyme Q10 deficiency (COQ10D) [MIM:607426]. An autosomal recessive disorder with variable manifestations. It can be associated with three main clinical phenotypes: a predominantly myopathic form with central nervous system involvement, an infantile encephalomyopathy with renal dysfunction and an ataxic form with cerebellar atrophy

ADCK3 cross reference