COA7 (cytochrome c oxidase assembly factor 7)

2014-11-01  

Identity

HGNC
COA7
LOCATION
1p32.3
LOCUSID
65260
ALIAS
C1orf163,RESA1,SCAN3,SELRC1

Other Information

Locus ID:

NCBI: 65260
MIM: 615623
HGNC: 25716
Ensembl: ENSG00000162377

Variants:

dbSNP: 65260
ClinVar: 65260
TCGA: ENSG00000162377
COSMIC: COA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162377ENST00000371538Q96BR5

Expression (GTEx)

0
5
10
15
20
25
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

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
377509492024Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.0
377509492024Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.0
352103602022Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.8
352103602022Mitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which acts in the early stages of complex IV assembly.8
308859592019Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.33
308859592019Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7.33
297181872018Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.19
297181872018Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.19
276838252016COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.23
276838252016COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.23
243330152014C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.14
243330152014C1orf163/RESA1 is a novel mitochondrial intermembrane space protein connected to respiratory chain assembly.14

Citation

Dessen P

COA7 (cytochrome c oxidase assembly factor 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61973