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FLASH GENE

Symbol

COQ4

contributors: mct/npt - updated : 26-02-2015

HGNC name	coenzyme Q4 homolog (S. cerevisiae)
HGNC id	19693

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COQ10D7 Coenzyme Q10 deficiency, primary, 7
Location	9q34.11      Physical location : 131.084.790 - 131.096.349
Synonym name	coenzyme Q4 homolog (yeast)
	ubiquinone biosynthesis protein COQ4 homolog
Synonym symbol(s)	CGI-92, RP11-339B21.5

DNA

TYPE	functioning gene
STRUCTURE	11.56 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor
text structure	consensus binding sites for several transcription factors, some ubiquitous, like SP1, and others related to respiratory metabolism such as nuclear respiratory factor 1 (NURF1) and hypoxia inducible factor (Hif-1)

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_016035 7 - 1597 NP_057119 - 265 - 2012 18474229 variant 2 - - - - 241 - 2012 18474229 lacks the mitochondrial targeting sequence localized mainly to the cytosol

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 Endocrine neuroendocrine pituitary     highly Nervous brain         Reproductive female system uterus cervix   highly Respiratory respiratory tract trachea     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

fetal eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a predicted N-terminal mitochondrial targeting sequence

HOMOLOGY

interspecies

ortholog to yeast Coq4

Homologene

FAMILY

COQ4 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus
text	associated with the mitochondrial inner membrane on the matrix side

basic FUNCTION	involved in coenzyme q biosynthesis
	may be a core component of multisubunit complex required for CoQ biosynthesis
	potentially playing a structural role crucial in the stabilization of a multiheteromeric complex including several, if not all, of the CoQ biosynthetic enzymes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

COQ10D7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS