COX17 (cytochrome c oxidase copper chaperone COX17)

2003-08-01  

Identity

HGNC
COX17
LOCATION
3q13.33
LOCUSID
10063
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10063
MIM: 604813
HGNC: 2264
Ensembl: ENSG00000138495

Variants:

dbSNP: 10063
ClinVar: 10063
TCGA: ENSG00000138495
COSMIC: COX17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138495ENST00000261070Q14061
ENSG00000138495ENST00000468918Q14061
ENSG00000138495ENST00000484810C9J8T6
ENSG00000138495ENST00000486606H7C4E5
ENSG00000138495ENST00000490145H7C5P5
ENSG00000138495ENST00000497116Q14061

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Oxidative phosphorylationKEGGhsa00190
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
184583392008Mitochondrial copper(I) transfer from Cox17 to Sco1 is coupled to electron transfer.36
176728252007Oxidative switches in functioning of mammalian copper chaperone Cox17.18
193932462009Knockdown of human COX17 affects assembly and supramolecular organization of cytochrome c oxidase.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
165203712006The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.13
265891822016Direct structural evidence of protein redox regulation obtained by in-cell NMR.11
267454642004Ezrin/radixin/moesin proteins are high affinity targets for ADP-ribosylation by Pseudomonas aeruginosa ExoS.8
146124912003Identification of COX17 as a therapeutic target for non-small cell lung cancer.7
218168172011Functional role of two interhelical disulfide bonds in human Cox17 protein from a structural perspective.4
155043662004A selective requirement for copper-dependent activation of cytochrome c oxidase by Cox17p.3

Citation

Dessen P

COX17 (cytochrome c oxidase copper chaperone COX17)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40135/cox17