Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

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

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

16 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 Pathway	Reactome Pathway
Oxidative phosphorylation	TP53 Regulates Metabolic Genes
Metabolic pathways	Respiratory electron transport
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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease recessive intermediate D	Pathogenic	rs587777783	RCV000144453	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (20)
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D	—	Disgenet	25152455	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	38182794	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31043756	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683, 32139696	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683, 32139696	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	—	CTD, HPO CTD, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COX6A1-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	25065397	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	20307258, 25152455, 26302975, 30030519	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet, ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PERONEAL MUSCULAR ATROPHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LANGUAGE IMPAIRMENT	—	GWAS catalog	25065397	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (11)
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	23569218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	25152455		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	Charcot-Marie-Tooth Disease	ORPHANET_DG	25152455		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	25152455		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D	Charcot-Marie-Tooth Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	19843159		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	26556829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	26556829	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
FGD4	7	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peripheral neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	11	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","GWAS catalog (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
SBF1	7	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peripheral neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	12	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","GWAS catalog (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peripheral neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
LRSAM1	6	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	11	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","GWAS catalog (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
GNB4	6	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	11	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","GWAS catalog (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]
GDAP1	7	["Charcot-marie-tooth disease","Dejerine-sottas disease","Hereditary motor and sensory neuropathies","Hypertrophic neuropathy","Peripheral neuropathy","Peroneal muscle atrophy","Roussy-levy syndrome"]	[]	12	["Disgenet (Charcot-marie-tooth disease)","Orphanet (Charcot-marie-tooth disease)","GWAS catalog (Charcot-marie-tooth disease)","ClinVar (Charcot-marie-tooth disease)","CTD (Charcot-marie-tooth disease)","HPO (Charcot-marie-tooth disease)","Disgenet (Dejerine-sottas disease)","Disgenet (Hereditary motor and sensory neuropathies)","Disgenet (Hypertrophic neuropathy)","Disgenet (Peripheral neuropathy)","Disgenet (Peroneal muscle atrophy)","Disgenet (Roussy-levy syndrome)"]

COX6A1 (cytochrome c oxidase subunit 6A1)

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