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FLASH GENE

Symbol

COX15

contributors: mct - updated : 29-03-2020

HGNC name	COX15 homolog, cytochrome c oxidase assembly protein (yeast)
HGNC id	2263

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	COX15D COX15 deficiency FHCM1 fatal hypertrophic cardiomyopathy 1
Location	10q24.2      Physical location : 101.468.506 - 101.492.423
Synonym name	COX15 (yeast) homolog, cytochrome c oxidase assembly protein
	cytochrome c oxidase subunit 15
	COX15 homolog
Synonym symbol(s)	CEMCOX2
EC.number	1.9.3.1

DNA

TYPE	functioning gene
STRUCTURE	37.84 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	several diverging in the 3'utr

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004376 9 - 3791 NP_004367 - 388 - 2003 12474143 COX15 - variant 2 NM_078470 9 - 5030 NP_510870 46 410 - 2003 12474143 NM_001320974 9 - 3428 NP_001307903 - 388 - 2003 12474143 NM_001320976 9 - 4947 NP_001307905 - 231 - 2003 12474143 NM_001372026 9 - 5003 NP_001358955 - 401 - 2003 12474143 NM_001372028 8 - 4121 NP_001358957 - 298 - 2003 12474143 NM_001320975 8 - 4875 NP_001307904 - 298 - 2003 12474143 NM_001372027 8 - 5020 NP_001358956 - 372 - 2003 12474143 NM_001372024 9 - 4276 NP_001358953 - 419 - 2003 12474143

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         Endocrine pancreas         Nervous brain         Reproductive male system prostate       Respiratory lung         Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Muscular striatum cardiac

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal mitochondrial leader peptide
	five transmembrane domains

HOMOLOGY

interspecies

homolog to yeast Cox15

Homologene

FAMILY

COX15/ctaA family

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,inner
	intracellular,cytoplasm,organelle,mitochondria,matrix
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus,nucleoplasm
text	inner mitochondrial membrane in yeast

basic FUNCTION	assembly of the backbone of c oxidase
	playing an essential role in mitochondrial heme modification
	plays a key role in the terminal component of the mitochondrial respiratory chain
	increase in cell viability due to COX15 expression is consistent with its role in oxidative phosphorylation as an assembly factor for cytochrome c oxidase and its involvement removing apoptosis-inducing oxygen radicals
	displays a role in cytochrome c oxidase assembly, which is independent of its functions as the heme a synthase
	exhibits homotypic interactions, forming highly stable complexes dependent upon hydrophobic interactions
	COX15 multimerization is important for heme a biosynthesis and/or transfer to maturing cytochrome c oxidase

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport

PATHWAY

metabolism

energetic

signaling

a component

component of the cytochrome oxidase c (ferrocytochrome c : oxygen oxidoreductase) complex,terminal enzyme in the mitochondrial respiratory chain (oxidative phosphorylation OXPHOS), catalyzing the elctron transfer from reduced cytochrome c to molecule oxygen

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FHCM1 , COX15D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in a bilateral ocular persistent fetal vasculaturev constitutional     --over   COX 15 mRNA was significantly more abundant in the cerebral tissue of Alzheimer Disease patients

Susceptibility

to Alzheimer disease

Variant & Polymorphism SNP	c+1120C>T SNP in COX15 were significantly less represented in the patient with AD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS