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Protein

Cytochrome c oxidase subunit 3

Gene

MT-CO3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Subunits I, II and III form the functional core of the enzyme complex.

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5628897. TP53 Regulates Metabolic Genes.
R-HSA-611105. Respiratory electron transport.

Protein family/group databases

TCDBi3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit 3
Alternative name(s):
Cytochrome c oxidase polypeptide III
Gene namesi
Name:MT-CO3
Synonyms:COIII, COXIII, MTCO3
Encoded oniMitochondrion
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Mitochondrion

Organism-specific databases

HGNCiHGNC:7422. MT-CO3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei15 – 35HelicalSequence analysisAdd BLAST21
Transmembranei42 – 59HelicalSequence analysisAdd BLAST18
Transmembranei81 – 101HelicalSequence analysisAdd BLAST21
Transmembranei127 – 147HelicalSequence analysisAdd BLAST21
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Transmembranei197 – 217HelicalSequence analysisAdd BLAST21
Transmembranei239 – 259HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leber hereditary optic neuropathy (LHON)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:535000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00216778G → S in LHON; secondary mutation; does not seem to directly cause the disease. 1 PublicationCorresponds to variant dbSNP:rs267606611Ensembl.1
Natural variantiVAR_002168200A → T in LHON; possible rare primary mutation. 1 PublicationCorresponds to variant dbSNP:rs200613617Ensembl.1
Mitochondrial complex IV deficiency (MT-C4D)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.
See also OMIM:220110
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03305794 – 98Missing in MT-C4D; with RM-MT. 1 Publication5
Recurrent myoglobinuria mitochondrial (RM-MT)1 Publication
The gene represented in this entry may be involved in disease pathogenesis.
Disease descriptionRecurrent 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.
See also OMIM:550500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03305794 – 98Missing in MT-C4D; with RM-MT. 1 Publication5
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)2 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionGenetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.
See also OMIM:540000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_002169251F → L in MELAS. 2 Publications1

Keywords - Diseasei

Disease mutation, Leber hereditary optic neuropathy, MELAS syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4514.
GeneReviewsiMT-CO3.
MalaCardsiMT-CO3.
MIMi220110. phenotype.
535000. phenotype.
540000. phenotype.
550500. phenotype.
OpenTargetsiENSG00000198938.
Orphaneti99845. Genetic recurrent myoglobinuria.
254905. Isolated cytochrome C oxidase deficiency.
104. Leber hereditary optic neuropathy.
255210. Maternally-inherited Leigh syndrome.
550. MELAS.

Chemistry databases

DrugBankiDB02659. Cholic Acid.
DB04464. N-Formylmethionine.

Polymorphism and mutation databases

DMDMi6648058.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001837931 – 261Cytochrome c oxidase subunit 3Add BLAST261

Proteomic databases

EPDiP00414.
PaxDbiP00414.
PeptideAtlasiP00414.
PRIDEiP00414.
TopDownProteomicsiP00414.

PTM databases

PhosphoSitePlusiP00414.

Expressioni

Gene expression databases

BgeeiENSG00000198938.
ExpressionAtlasiP00414. baseline and differential.
GenevisibleiP00414. HS.

Organism-specific databases

HPAiHPA042788.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SNCAP378403EBI-3932264,EBI-985879

Protein-protein interaction databases

BioGridi110617. 8 interactors.
IntActiP00414. 8 interactors.
STRINGi9606.ENSP00000354982.

Structurei

3D structure databases

ProteinModelPortaliP00414.
SMRiP00414.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4664. Eukaryota.
COG1845. LUCA.
GeneTreeiENSGT00390000013064.
HOGENOMiHOG000264954.
HOVERGENiHBG016686.
InParanoidiP00414.
KOiK02262.
OMAiPWPLTGA.
OrthoDBiEOG091G0GH8.
PhylomeDBiP00414.
TreeFamiTF343435.

Family and domain databases

CDDicd01665. Cyt_c_Oxidase_III. 1 hit.
Gene3Di1.20.120.80. 1 hit.
InterProiView protein in InterPro
IPR024791. Cyt_c/ubiquinol_Oxase_su3.
IPR033945. Cyt_c_oxase_su3_dom.
IPR000298. Cyt_c_oxidase-like_su3.
IPR013833. Cyt_c_oxidase_su3_a-hlx.
PANTHERiPTHR11403. PTHR11403. 1 hit.
PfamiView protein in Pfam
PF00510. COX3. 1 hit.
SUPFAMiSSF81452. SSF81452. 1 hit.
PROSITEiView protein in PROSITE
PS50253. COX3. 1 hit.

Sequencei

Sequence statusi: Complete.

P00414-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTHQSHAYHM VKPSPWPLTG ALSALLMTSG LAMWFHFHSM TLLMLGLLTN
60 70 80 90 100
TLTMYQWWRD VTRESTYQGH HTPPVQKGLR YGMILFITSE VFFFAGFFWA
110 120 130 140 150
FYHSSLAPTP QLGGHWPPTG ITPLNPLEVP LLNTSVLLAS GVSITWAHHS
160 170 180 190 200
LMENNRNQMI QALLITILLG LYFTLLQASE YFESPFTISD GIYGSTFFVA
210 220 230 240 250
TGFHGLHVII GSTFLTICFI RQLMFHFTSK HHFGFEAAAW YWHFVDVVWL
260
FLYVSIYWWG S
Length:261
Mass (Da):29,951
Last modified:May 30, 2000 - v2
Checksum:iA04385EF748B7C14
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti118P → R in CAA24032 (PubMed:7219534).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0085733H → R1 Publication1
Natural variantiVAR_00857435F → S1 Publication1
Natural variantiVAR_00216778G → S in LHON; secondary mutation; does not seem to directly cause the disease. 1 PublicationCorresponds to variant dbSNP:rs267606611Ensembl.1
Natural variantiVAR_00857591V → I1 PublicationCorresponds to variant dbSNP:rs2853825Ensembl.1
Natural variantiVAR_03305794 – 98Missing in MT-C4D; with RM-MT. 1 Publication5
Natural variantiVAR_008576177Q → R1 Publication1
Natural variantiVAR_002168200A → T in LHON; possible rare primary mutation. 1 PublicationCorresponds to variant dbSNP:rs200613617Ensembl.1
Natural variantiVAR_002169251F → L in MELAS. 2 Publications1
Natural variantiVAR_008577254V → I1 PublicationCorresponds to variant dbSNP:rs200809063Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J01415 Genomic DNA. Translation: AAB58949.2.
V00662 Genomic DNA. Translation: CAA24032.1.
DQ654394 Genomic DNA. Translation: ABG27956.1.
DQ654395 Genomic DNA. Translation: ABG27958.1.
DQ654396 Genomic DNA. Translation: ABG27960.1.
DQ654397 Genomic DNA. Translation: ABG27962.1.
DQ654398 Genomic DNA. Translation: ABG27964.1.
DQ654399 Genomic DNA. Translation: ABG27966.1.
DQ654400 Genomic DNA. Translation: ABG27968.1.
DQ654401 Genomic DNA. Translation: ABG27970.1.
DQ654402 Genomic DNA. Translation: ABG27972.1.
DQ654403 Genomic DNA. Translation: ABG27974.1.
DQ654404 Genomic DNA. Translation: ABG27976.1.
DQ654405 Genomic DNA. Translation: ABG27978.1.
DQ654406 Genomic DNA. Translation: ABG27980.1.
DQ654407 Genomic DNA. Translation: ABG27982.1.
DQ654408 Genomic DNA. Translation: ABG27984.1.
DQ654409 Genomic DNA. Translation: ABG27986.1.
DQ654410 Genomic DNA. Translation: ABG27988.1.
DQ654411 Genomic DNA. Translation: ABG27990.1.
DQ654412 Genomic DNA. Translation: ABG27992.1.
DQ654413 Genomic DNA. Translation: ABG27994.1.
DQ654414 Genomic DNA. Translation: ABG27996.1.
DQ654415 Genomic DNA. Translation: ABG27998.1.
DQ654416 Genomic DNA. Translation: ABG28000.1.
DQ654417 Genomic DNA. Translation: ABG28002.1.
DQ654418 Genomic DNA. Translation: ABG28004.1.
DQ654419 Genomic DNA. Translation: ABG28006.1.
DQ654420 Genomic DNA. Translation: ABG28008.1.
DQ654421 Genomic DNA. Translation: ABG28010.1.
DQ654422 Genomic DNA. Translation: ABG28012.1.
DQ654423 Genomic DNA. Translation: ABG28014.1.
DQ654424 Genomic DNA. Translation: ABG28016.1.
DQ654425 Genomic DNA. Translation: ABG28018.1.
DQ654426 Genomic DNA. Translation: ABG28020.1.
DQ654427 Genomic DNA. Translation: ABG28022.1.
DQ654428 Genomic DNA. Translation: ABG28024.1.
DQ654429 Genomic DNA. Translation: ABG28026.1.
DQ654430 Genomic DNA. Translation: ABG28028.1.
DQ654431 Genomic DNA. Translation: ABG28030.1.
DQ654432 Genomic DNA. Translation: ABG28032.1.
DQ654433 Genomic DNA. Translation: ABG28034.1.
DQ654434 Genomic DNA. Translation: ABG28036.1.
DQ654435 Genomic DNA. Translation: ABG28038.1.
DQ654436 Genomic DNA. Translation: ABG28040.1.
DQ654437 Genomic DNA. Translation: ABG28042.1.
DQ654438 Genomic DNA. Translation: ABG28044.1.
DQ654439 Genomic DNA. Translation: ABG28046.1.
DQ654440 Genomic DNA. Translation: ABG28048.1.
DQ654441 Genomic DNA. Translation: ABG28050.1.
DQ654442 Genomic DNA. Translation: ABG28052.1.
DQ654443 Genomic DNA. Translation: ABG28054.1.
AF004341 Genomic DNA. Translation: AAB63452.1.
PIRiA00482. OTHU3.
RefSeqiYP_003024032.1. NC_012920.1.

Genome annotation databases

EnsembliENST00000362079; ENSP00000354982; ENSG00000198938.
GeneIDi4514.
KEGGihsa:4514.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCOX3_HUMAN
AccessioniPrimary (citable) accession number: P00414
Secondary accession number(s): Q14Y83
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: May 30, 2000
Last modified: August 30, 2017
This is version 172 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families