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P00414

- COX3_HUMAN

UniProt

P00414 - COX3_HUMAN

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Protein

Cytochrome c oxidase subunit 3

Gene

MT-CO3

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cytochrome-c oxidase activity Source: InterPro

GO - Biological processi

  1. aerobic electron transport chain Source: InterPro
  2. cellular metabolic process Source: Reactome
  3. respiratory chain complex IV assembly Source: UniProtKB
  4. respiratory electron transport chain Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_22393. 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
ProteomesiUP000005640: Mitochondrion

Organism-specific databases

HGNCiHGNC:7422. MT-CO3.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
  3. respiratory chain complex IV Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leber hereditary optic neuropathy (LHON) [MIM:535000]: 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781G → S in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
VAR_002167
Natural varianti200 – 2001A → T in LHON; possible rare primary mutation. 1 Publication
VAR_002168
Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: 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, 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 985Missing in MT-C4D; with RM-MT. 1 Publication
VAR_033057
Recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]: 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.
Note: The gene represented in this entry may be involved in disease pathogenesis.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 985Missing in MT-C4D; with RM-MT. 1 Publication
VAR_033057

Keywords - Diseasei

Disease mutation, Leber hereditary optic neuropathy, MELAS syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 261260Cytochrome c oxidase subunit 3PRO_0000183793Add
BLAST

Proteomic databases

MaxQBiP00414.
PaxDbiP00414.
PRIDEiP00414.

Expressioni

Gene expression databases

BgeeiP00414.
ExpressionAtlasiP00414. baseline.
GenevestigatoriP00414.

Organism-specific databases

HPAiHPA042788.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110617. 3 interactions.
IntActiP00414. 6 interactions.

Structurei

3D structure databases

ProteinModelPortaliP00414.
SMRiP00414. Positions 3-261.
ModBaseiSearch...
MobiDBiSearch...

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei15 – 3521HelicalSequence AnalysisAdd
BLAST
Transmembranei42 – 5918HelicalSequence AnalysisAdd
BLAST
Transmembranei81 – 10121HelicalSequence AnalysisAdd
BLAST
Transmembranei127 – 14721HelicalSequence AnalysisAdd
BLAST
Transmembranei159 – 17921HelicalSequence AnalysisAdd
BLAST
Transmembranei197 – 21721HelicalSequence AnalysisAdd
BLAST
Transmembranei239 – 25921HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1845.
HOGENOMiHOG000264954.
HOVERGENiHBG016686.
InParanoidiP00414.
KOiK02262.
OMAiIFLATEV.
OrthoDBiEOG72VH70.
PhylomeDBiP00414.
TreeFamiTF343435.

Family and domain databases

Gene3Di1.20.120.80. 1 hit.
InterProiIPR024791. Cyt_c/ubiquinol_Oxase_su3.
IPR013833. Cyt_c_oxidase_su3_a-hlx.
IPR000298. Cyt_c_oxidase_su3_dom.
[Graphical view]
PANTHERiPTHR11403. PTHR11403. 1 hit.
PfamiPF00510. COX3. 1 hit.
[Graphical view]
SUPFAMiSSF81452. SSF81452. 1 hit.
PROSITEiPS50253. COX3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti118 – 1181P → R in CAA24032. (PubMed:7219534)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31H → R.1 Publication
VAR_008573
Natural varianti35 – 351F → S.1 Publication
VAR_008574
Natural varianti78 – 781G → S in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication
VAR_002167
Natural varianti91 – 911V → I.1 Publication
Corresponds to variant rs2853825 [ dbSNP | Ensembl ].
VAR_008575
Natural varianti94 – 985Missing in MT-C4D; with RM-MT. 1 Publication
VAR_033057
Natural varianti177 – 1771Q → R.1 Publication
VAR_008576
Natural varianti200 – 2001A → T in LHON; possible rare primary mutation. 1 Publication
VAR_002168
Natural varianti251 – 2511F → L in a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. 1 Publication
VAR_002169
Natural varianti254 – 2541V → I.1 Publication
VAR_008577

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi6648058.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
PIRi A00482. OTHU3.
RefSeqi YP_003024032.1. NC_012920.1.

3D structure databases

ProteinModelPortali P00414.
SMRi P00414. Positions 3-261.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110617. 3 interactions.
IntActi P00414. 6 interactions.

Protein family/group databases

TCDBi 3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

Polymorphism databases

DMDMi 6648058.

Proteomic databases

MaxQBi P00414.
PaxDbi P00414.
PRIDEi P00414.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000362079 ; ENSP00000354982 ; ENSG00000198938 .
GeneIDi 4514.
KEGGi hsa:4514.

Organism-specific databases

CTDi 4514.
GeneCardsi GCMTP009209.
GeneReviewsi MT-CO3.
H-InvDB HIX0060139.
HGNCi HGNC:7422. MT-CO3.
HPAi HPA042788.
MIMi 220110. phenotype.
516050. gene.
535000. phenotype.
550500. phenotype.
neXtProti NX_P00414.
Orphaneti 99845. Genetic recurrent myoglobinuria.
254905. Isolated cytochrome C oxidase deficiency.
104. Leber hereditary optic neuropathy.
255210. Maternally-inherited Leigh syndrome.
550. MELAS syndrome.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1845.
HOGENOMi HOG000264954.
HOVERGENi HBG016686.
InParanoidi P00414.
KOi K02262.
OMAi IFLATEV.
OrthoDBi EOG72VH70.
PhylomeDBi P00414.
TreeFami TF343435.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

GeneWikii MT-CO3.
NextBioi 17434.
PROi P00414.
SOURCEi Search...

Gene expression databases

Bgeei P00414.
ExpressionAtlasi P00414. baseline.
Genevestigatori P00414.

Family and domain databases

Gene3Di 1.20.120.80. 1 hit.
InterProi IPR024791. Cyt_c/ubiquinol_Oxase_su3.
IPR013833. Cyt_c_oxidase_su3_a-hlx.
IPR000298. Cyt_c_oxidase_su3_dom.
[Graphical view ]
PANTHERi PTHR11403. PTHR11403. 1 hit.
Pfami PF00510. COX3. 1 hit.
[Graphical view ]
SUPFAMi SSF81452. SSF81452. 1 hit.
PROSITEi PS50253. COX3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Kogelnik A., Brown M.
    Submitted (APR-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO 118.
  3. "In situ origin of deep rooting lineages of mitochondrial Macrohaplogroup 'M' in India."
    Thangaraj K., Chaubey G., Singh V.K., Vanniarajan A., Thanseem I., Reddy A.G., Singh L.
    BMC Genomics 7:151-151(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-31.
  4. Swanson K.V., Griffiss J.
    Submitted (JUL-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 167-261.
    Tissue: Endometrial adenocarcinoma.
  5. "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."
    Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.
    Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ILE-91; ARG-177 AND ILE-254.
  6. "Cytochrome c oxidase mutations in Leber hereditary optic neuropathy."
    Johns D.R., Neufeld M.J.
    Biochem. Biophys. Res. Commun. 196:810-815(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LHON SER-78 AND THR-200.
  7. "A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene."
    Manfredi G., Schon E.A., Moraes C.T., Bonilla E., Berry G.T., Sladky J.T., Dimauro S.
    Neuromuscul. Disord. 5:391-398(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-251.
  8. "A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria."
    Keightley J.A., Hoffbuhr K.C., Burton M.D., Salas V.M., Johnston W.S.W., Penn A.M.W., Buist N.R.M., Kennaway N.G.
    Nat. Genet. 12:410-416(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MT-C4D 94-PHE--PHE-98 DEL.
  9. "Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome."
    Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A.
    Nucleic Acids Res. 26:967-973(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-3 AND SER-35.

Entry informationi

Entry nameiCOX3_HUMAN
AccessioniPrimary (citable) accession number: P00414
Secondary accession number(s): Q14Y83
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: May 30, 2000
Last modified: October 29, 2014
This is version 147 of the entry and version 2 of the sequence. [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

External Data

Dasty 3