COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10)

2007-04-01  

Identity

HGNC
COX10
LOCATION
17p12
LOCUSID
1352
ALIAS
MC4DN3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1352
MIM: 602125
HGNC: 2260
Ensembl: ENSG00000006695

Variants:

dbSNP: 1352
ClinVar: 1352
TCGA: ENSG00000006695
COSMIC: COX10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006695ENST00000261643Q12887
ENSG00000006695ENST00000429152H7C101
ENSG00000006695ENST00000580561J3KRW4
ENSG00000006695ENST00000581931J3KSJ3
ENSG00000006695ENST00000664217Q12887
ENSG00000006695ENST00000670279A0A590UJJ5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
Porphyrin and chlorophyll metabolismKEGGko00860
Oxidative phosphorylationKEGGhsa00190
Porphyrin and chlorophyll metabolismKEGGhsa00860
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
MetabolismREACTOMER-HSA-1430728
Metabolism of porphyrinsREACTOMER-HSA-189445
Heme biosynthesisREACTOMER-HSA-189451

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
204986292010Hypoxia-regulated microRNA-210 modulates mitochondrial function and decreases ISCU and COX10 expression.135
119593982002Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease.77
129284842003Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency.70
171924832007Dominant-negative alpha-subunit of farnesyl- and geranyltransferase inhibits glucose-stimulated, but not KCl-stimulated, insulin secretion in INS 832/13 cells.28
200497012009Expression of the alternative oxidase complements cytochrome c oxidase deficiency in human cells.28
257663302015Cytochrome c oxidase deficiency accelerates mitochondrial apoptosis by activating ceramide synthase 6.22
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
154554022004Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.16
198269012009Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.8
198269012009Analysis of the genes coding for subunit 10 and 15 of cytochrome c oxidase in Alzheimer's disease.8

Citation

Dessen P

COX10 (cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47082/cox10-(cytochrome-c-oxidase-assembly-factor-heme-a-farnesyltransferase-cox10)