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FLASH GENE

Symbol

ADCK3

contributors: mct - updated : 02-05-2013

HGNC name	aarF domain-containing protein kinase 3
HGNC id	16812

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	UDCA ubiquinone deficiency with cerebellar ataxia
Location	1q42.13      Physical location : -
Genatlas name	chaperone activity of bc1 complex
Synonym name	chaperone-ABC1 (activity of bc1 complex, S.pombe)-like
	coenzyme Q8 homolog
	chaperone, ABC1 activity of bc1 complex like (S. pombe)
Synonym symbol(s)	COQ8, MGC4849, PP265, ARCA2, CABC1, COQ10D4, SCAR9
EC.number	2.7.11.-

DNA

TYPE	functioning gene
STRUCTURE	47.31 kb     15 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020247 15 - 2932 NP_064632 - 647 - 2002 11888884

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive mouth       highly   stomach       highly Lymphoid/Immune thymus       highly Nervous brain         Reproductive female system uterus         male system prostate       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal kinase motifs
	an ABC1-like motif

HOMOLOGY

interspecies	ortholog to yeast S.pombe ABC1 family (unrelated to ABC transporter)
	homolog to yeast Coq8p

Homologene

FAMILY

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria

basic FUNCTION	potentially mediating TP53-inducible apoptosis through the mitochondrial pathway
	having a protein kinase function in Q biosynthesis

CELLULAR PROCESS	cell life, proliferation/growth
	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

text	supressor of cell growth inducer of apoptosis

PATHWAY

metabolism

signaling

part of the CoQ(10) biosynthetic pathways with PDSS1, PDSS2, COQ2, COQ6, COQ9

a component

INTERACTION

DNA

RNA

small molecule

protein

target of the TP53 tumor suppressor (third TP53-regulated gene in mitochondrial disorders)

cell & other

REGULATION

induced by

the tumor suppressor TP53 and in response to DNA damage

ASSOCIATED DISORDERS

corresponding disease(s)

UDCA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS