COX7A1 (cytochrome c oxidase subunit 7A1)

2007-04-01 Affiliation

Identity

HGNC

COX7A1

LOCATION

19q13.12

LOCUSID

1346

ALIAS

COX7A,COX7AH,COX7AM

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1346
MIM: 123995
HGNC: 2287
Ensembl: ENSG00000161281

Variants:

dbSNP: 1346
ClinVar: 1346
TCGA: ENSG00000161281
COSMIC: COX7A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000161281	ENST00000292907	P24310
ENSG00000161281	ENST00000292907	Q6FGI7
ENSG00000161281	ENST00000437291	U3KQH8
ENSG00000161281	ENST00000589154	K7ER11

Expression (GTEx)

100

200

300

400

500

600

700

800

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Cytochrome c oxidase	KEGG	hsa_M00154
Cytochrome c oxidase	KEGG	M00154
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18488190	2008	Age influences DNA methylation and gene expression of COX7A1 in human skeletal muscle.	60
18488190	2008	Age influences DNA methylation and gene expression of COX7A1 in human skeletal muscle.	60
19843159	2009	Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria.	31
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11
27866983	2017	Downregulation of cytochrome c oxidase subunit 7A1 expression is important in enhancing cell proliferation in adenocarcinoma cells.	4
11997101	2002	Genomic organization and promoter regulation of human cytochrome c oxidase subunit VII heart/muscle isoform (COX7AH).	3
25666558	2015	Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.	3

Citation

Dessen P

COX7A1 (cytochrome c oxidase subunit 7A1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46994/cox7a1