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Protein Page:
COX1 (human)

Overview
COX1 Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1- 3 form the functional core of the enzyme complex. CO I is the catalytic subunit of the enzyme. Electrons originating in cytochrome c are transferred via the copper A center of subunit 2 and heme A of subunit 1 to the bimetallic center formed by heme A3 and copper B. Defects in MT-CO1 are a cause of Leber hereditary optic neuropathy (LHON). LHON is a maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. MT-CO1 may play a role in the pathogenesis of acquired idiopathic sideroblastic anemia, a disease characterized by inadequate formation of heme and excessive accumulation of iron in mitochondria. Mitochondrial iron overload may be attributable to mutations of mitochondrial DNA because these can cause respiratory chain dysfunction, thereby impairing reduction of ferric iron to ferrous iron. The reduced form of iron is essential to the last step of mitochondrial heme biosynthesis. Defects in MT-CO1 are a cause of mitochondrial complex IV deficiency (MT-C4D); also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome. Defects in MT-CO1 are associated with recurrent myoglobinuria mitochondrial (RM-MT). Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. Defects in MT-CO1 are a cause of deafness sensorineural mitochondrial (DFNM). DFNM is a form of non-syndromic deafness with maternal inheritance. Affected individuals manifest progressive, postlingual, sensorineural hearing loss involving high frequencies. Defects in MT-CO1 are a cause of colorectal cancer (CRC). Belongs to the heme-copper respiratory oxidase family. Note: This description may include information from UniProtKB.
Protein type: EC 1.9.3.1; Membrane protein, multi-pass; Membrane protein, integral; Oxidoreductase; Mitochondrial; Energy Metabolism - oxidative phosphorylation
Reference #:  P00395 (UniProtKB)
Alt. Names/Synonyms: COI; COX1; COXI; Cytochrome c oxidase polypeptide I; Cytochrome c oxidase subunit 1; cytochrome c oxidase subunit I; mitochondrially encoded cytochrome c oxidase I; MT-CO1; MT-COI; MTCO1
Gene Symbols: MT-CO1
Molecular weight: 57,041 Da
Basal Isoelectric point: 6.19  Predict pI for various phosphorylation states
Select Structure to View Below

COX1

Protein Structure Not Found.


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Modification Sites and Domains  

Modification Sites in Parent Protein, Orthologs, and Isoforms  
 

Show Multiple Sequence Alignment


 SS 

SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.


 MS 

MS: The number of records in which this modification site was assigned using ONLY proteomic discovery-mode mass spectrometry.


       human

 
0 1 T17-p TNHKDIGtLyLLFGA
0 1 Y19-p HKDIGtLyLLFGAWA
0 1 T31-p AWAGVLGtALsLLIR
0 1 S34-p GVLGtALsLLIRAEL
1 1 S156 SLHLAGVSSILGAIN
1 1 S157 LHLAGVSSILGAINF
3 1 Y304 MDVDTRAYFTSATMI
0 1 T316-p TMIIAIPtGVKVFSW
0 1 S330-p WLATLHGsNMKWSAA
  mouse

 
T17 TNHKDIGTLYLLFGA
Y19 HKDIGTLYLLFGAWA
T31 AWAGMVGTALSILIR
S34 GMVGTALSILIRAEL
S156 SLHLAGVSSILGAIN
S157 LHLAGVSSILGAINF
Y304 LDVDTRAYFTSATMI
T316 TMIIAIPTGVKVFSW
G330 WLATLHGGNIKWSPA
  rabbit

 
T17 TNHKDIGTLYLLFGA
Y19 HKDIGTLYLLFGAWA
T31 AWAGMVGTALSLLIR
S34 GMVGTALSLLIRAEL
S156-p SLHLAGVssILGAIN
S157-p LHLAGVssILGAINF
Y304 MDVDTRAYFTSATMI
T316 TMIIAIPTGVKVFSW
G330 WLATLHGGNIKWSPA
  cow

 
T17 TNHKDIGTLYLLFGA
Y19 HKDIGTLYLLFGAWA
T31 AWAGMVGTALSLLIR
S34 GMVGTALSLLIRAEL
S156 SLHLAGVSSILGAIN
S157 LHLAGVSSILGAINF
Y304-p MDVDTRAyFTSATMI
T316 TMIIAIPTGVKVFSW
G330 WLATLHGGNIKWSPA
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