COX1 (mitochondrially encoded cytochrome c oxidase I)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4512
Gene name Mitochondrially encoded cytochrome c oxidase I
Gene symbol COX1
Synonyms (NCBI Gene)
COIMTCO1
Chromosome MT
Chromosome location -
miRNA miRNA information provided by mirtarbase database.
35
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
miRTarBase ID miRNA Experiments Reference
MIRT052429 hsa-let-7a-5p CLASH 23622248
MIRT051954 hsa-let-7b-5p CLASH 23622248
MIRT051954 hsa-let-7b-5p CLASH 23622248
MIRT051799 hsa-let-7c-5p CLASH 23622248
MIRT051484 hsa-let-7e-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
MLL4 Unknown 19570036
NFKB1 Unknown 19570036
NR3C1 Unknown 19570036
RELA Unknown 19570036
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEA
GO:0004129 Function Cytochrome-c oxidase activity IBA
GO:0004129 Function Cytochrome-c oxidase activity IEA
GO:0004129 Function Cytochrome-c oxidase activity IMP 12140182
GO:0005515 Function Protein binding IPI 12762840, 23260140, 26321642, 29154948, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
516030 7419 HGNC
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00395
Protein name Cytochrome c oxidase subunit 1 (EC 7.1.1.9) (Cytochrome c oxidase polypeptide I)
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
PF00115 COX1 14 → 460 Cytochrome C and Quinol oxidase polypeptide I Family
Sequence
Sequence length 513
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (19)
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.
Phenotype Name Clinical Significance Source Evidence Score
CARCINOMA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT PALATE AND BILATERAL CLEFT LIP — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (318)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromegaly Acromegaly Pubtator 32171274 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 19485927, 31828756
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15190260
★★★★★
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11059772, 11920472, 28206968, 28362707
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11005569, 15585388, 15958546, 17691999, 31707149
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 19205707
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15807932, 28362707
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 11685545, 31552592
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 28362707
★★★★★
★☆☆☆☆
Found in Text Mining only