Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1337
Gene name	Cytochrome c oxidase subunit 6A1
Gene symbol	COX6A1
Synonyms (NCBI Gene)	CMTRIDCOX6ACOX6AL
Chromosome	12
Chromosome location	12q24.31\|12q24.2
Summary	Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs377504835	G>A,C	Likely-pathogenic	Splice donor variant
rs587777783	TCCAC>-	Pathogenic	Intron variant

143

Show/Hide all (143)

miRTarBase ID	miRNA	Experiments	Reference
MIRT335441	hsa-miR-6757-5p	HITS-CLIP	23313552
MIRT335443	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT335440	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696673	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT696672	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT696671	hsa-miR-8085	HITS-CLIP	23313552
MIRT696670	hsa-miR-579-3p	HITS-CLIP	23313552
MIRT696669	hsa-miR-664b-3p	HITS-CLIP	23313552
MIRT335439	hsa-miR-3064-3p	HITS-CLIP	23313552
MIRT335437	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT335436	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT335442	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT574289	hsa-miR-3133	PAR-CLIP	20371350
MIRT574288	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT574287	hsa-miR-3974	PAR-CLIP	20371350
MIRT574286	hsa-miR-6882-5p	PAR-CLIP	20371350
MIRT335431	hsa-miR-5003-3p	PAR-CLIP	20371350
MIRT270468	hsa-miR-300	PAR-CLIP	20371350
MIRT270467	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT335417	hsa-miR-27b-5p	PAR-CLIP	20371350
MIRT335429	hsa-miR-4720-3p	PAR-CLIP	20371350
MIRT405146	hsa-miR-4792	PAR-CLIP	20371350
MIRT335441	hsa-miR-6757-5p	HITS-CLIP	23313552
MIRT335443	hsa-miR-6871-5p	HITS-CLIP	23313552
MIRT335440	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT696673	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT696672	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT696671	hsa-miR-8085	HITS-CLIP	23313552
MIRT696670	hsa-miR-579-3p	HITS-CLIP	23313552
MIRT696669	hsa-miR-664b-3p	HITS-CLIP	23313552
MIRT335439	hsa-miR-3064-3p	HITS-CLIP	23313552
MIRT335437	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT335436	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT335442	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT574289	hsa-miR-3133	PAR-CLIP	20371350
MIRT574288	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT574287	hsa-miR-3974	PAR-CLIP	20371350
MIRT574286	hsa-miR-6882-5p	PAR-CLIP	20371350
MIRT335431	hsa-miR-5003-3p	PAR-CLIP	20371350
MIRT270468	hsa-miR-300	PAR-CLIP	20371350
MIRT270467	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT335417	hsa-miR-27b-5p	PAR-CLIP	20371350
MIRT335429	hsa-miR-4720-3p	PAR-CLIP	20371350
MIRT405146	hsa-miR-4792	PAR-CLIP	20371350
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT2204386	hsa-miR-4503	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT2204386	hsa-miR-4503	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq
MIRT905415	hsa-miR-140-5p	CLIP-seq
MIRT905416	hsa-miR-1825	CLIP-seq
MIRT905417	hsa-miR-186	CLIP-seq
MIRT905418	hsa-miR-1976	CLIP-seq
MIRT905419	hsa-miR-198	CLIP-seq
MIRT905420	hsa-miR-2467-3p	CLIP-seq
MIRT905421	hsa-miR-3545-5p	CLIP-seq
MIRT905422	hsa-miR-3663-5p	CLIP-seq
MIRT905423	hsa-miR-3678-3p	CLIP-seq
MIRT905424	hsa-miR-381	CLIP-seq
MIRT905425	hsa-miR-3944-5p	CLIP-seq
MIRT905426	hsa-miR-4281	CLIP-seq
MIRT905427	hsa-miR-4292	CLIP-seq
MIRT905428	hsa-miR-4308	CLIP-seq
MIRT905429	hsa-miR-4460	CLIP-seq
MIRT2204386	hsa-miR-4503	CLIP-seq
MIRT905430	hsa-miR-4716-5p	CLIP-seq
MIRT905431	hsa-miR-4722-3p	CLIP-seq
MIRT905432	hsa-miR-512-3p	CLIP-seq
MIRT905433	hsa-miR-548q	CLIP-seq
MIRT905434	hsa-miR-579	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
MEF2A	Unknown	18222924
NRF1	Unknown	10773445
YY1	Unknown	10773445

Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17500595, 32296183, 32814053
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	2549515
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	IBA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	NAS	30030519
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030234	Function	Enzyme regulator activity	IBA
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045333	Process	Cellular respiration	NAS	30030519

MIM	HGNC	e!Ensembl
602072	2277	ENSG00000111775

P12074

Protein name

Cytochrome c oxidase subunit 6A1, mitochondrial (Cytochrome c oxidase polypeptide VIa-liver) (Cytochrome c oxidase subunit VIA-liver) (COX VIa-L)

Protein function

Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu

PDB

5Z62

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02046	COX6A	21 → 102	Cytochrome c oxidase subunit VIa	Family

Sequence

MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLK
SHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE

Sequence length

109

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Cardiac muscle contraction Thermogenesis Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		TP53 Regulates Metabolic Genes Respiratory electron transport

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease recessive intermediate D	Pathogenic	rs587777783	RCV000144453

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
COX6A1-related disorder	Likely benign; Benign	rs148951026, rs138997341, rs146125922	RCV003893286 RCV003913616 RCV003932632
Peripheral neuropathy	Uncertain significance	rs377504835	RCV000678469
See cases	Uncertain significance	rs148139529	RCV002252733

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma Follicular	Associate	23569218
Adenocarcinoma of Lung	Associate	32769881, 40331946
Carcinogenesis	Associate	23569218
Charcot Marie Tooth Disease	Associate	26556829
Leukoplakia Oral	Associate	37454941
Neoplasms	Associate	40331946
Peripheral Nervous System Diseases	Associate	26556829
Spastic Paraplegia Hereditary	Associate	26556829

COX6A1 (cytochrome c oxidase subunit 6A1)