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P00414 (COX3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 141. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cytochrome c oxidase subunit 3
Alternative name(s):
Cytochrome c oxidase polypeptide III
Gene names
Name:MT-CO3
Synonyms:COIII, COXIII, MTCO3
Encoded onMitochondrion
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length261 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Mitochondrion inner membrane; Multi-pass membrane protein By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

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.

Sequence similarities

Belongs to the cytochrome c oxidase subunit 3 family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SNCAP378403EBI-3932264,EBI-985879

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed By similarity
Chain2 – 261260Cytochrome c oxidase subunit 3
PRO_0000183793

Regions

Transmembrane15 – 3521Helical; Potential
Transmembrane42 – 5918Helical; Potential
Transmembrane81 – 10121Helical; Potential
Transmembrane127 – 14721Helical; Potential
Transmembrane159 – 17921Helical; Potential
Transmembrane197 – 21721Helical; Potential
Transmembrane239 – 25921Helical; Potential

Natural variations

Natural variant31H → R. Ref.9
VAR_008573
Natural variant351F → S. Ref.9
VAR_008574
Natural variant781G → S in LHON; secondary mutation; does not seem to directly cause the disease. Ref.6
VAR_002167
Natural variant911V → I. Ref.5
Corresponds to variant rs2853825 [ dbSNP | Ensembl ].
VAR_008575
Natural variant94 – 985Missing in MT-C4D; with RM-MT.
VAR_033057
Natural variant1771Q → R. Ref.5
VAR_008576
Natural variant2001A → T in LHON; possible rare primary mutation. Ref.6
VAR_002168
Natural variant2511F → L in a patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. Ref.7
VAR_002169
Natural variant2541V → I. Ref.5
VAR_008577

Experimental info

Sequence conflict1181P → R in CAA24032. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P00414 [UniParc].

Last modified May 30, 2000. Version 2.
Checksum: A04385EF748B7C14

FASTA26129,951
        10         20         30         40         50         60 
MTHQSHAYHM VKPSPWPLTG ALSALLMTSG LAMWFHFHSM TLLMLGLLTN TLTMYQWWRD 

        70         80         90        100        110        120 
VTRESTYQGH HTPPVQKGLR YGMILFITSE VFFFAGFFWA FYHSSLAPTP QLGGHWPPTG 

       130        140        150        160        170        180 
ITPLNPLEVP LLNTSVLLAS GVSITWAHHS LMENNRNQMI QALLITILLG LYFTLLQASE 

       190        200        210        220        230        240 
YFESPFTISD GIYGSTFFVA TGFHGLHVII GSTFLTICFI RQLMFHFTSK HHFGFEAAAW 

       250        260 
YWHFVDVVWL FLYVSIYWWG S 

« Hide

References

« Hide 'large scale' references
[1]"Sequence and organization of the human mitochondrial genome."
Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G.
Nature 290:457-465(1981) [PubMed] [Europe PMC] [Abstract]
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.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIROTHU3. A00482.
RefSeqYP_003024032.1. NC_012920.1.

3D structure databases

ProteinModelPortalP00414.
SMRP00414. Positions 3-261.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110617. 3 interactions.
IntActP00414. 6 interactions.

Protein family/group databases

TCDB3.D.4.11.1. the proton-translocating cytochrome oxidase (cox) superfamily.

Polymorphism databases

DMDM6648058.

Proteomic databases

PaxDbP00414.
PRIDEP00414.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000362079; ENSP00000354982; ENSG00000198938.
GeneID4514.
KEGGhsa:4514.

Organism-specific databases

CTD4514.
GeneCardsGCMTP009209.
H-InvDBHIX0060139.
HGNCHGNC:7422. MT-CO3.
HPAHPA042788.
MIM220110. phenotype.
516050. gene.
535000. phenotype.
550500. phenotype.
neXtProtNX_P00414.
Orphanet99845. Genetic recurrent myoglobinuria.
254905. Isolated cytochrome C oxidase deficiency.
104. Leber hereditary optic neuropathy.
255210. Maternally-inherited Leigh syndrome.
550. MELAS syndrome.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1845.
HOGENOMHOG000264954.
HOVERGENHBG016686.
InParanoidP00414.
KOK02262.
OMAFFWAFYH.
OrthoDBEOG72VH70.
PhylomeDBP00414.
ProtClustDBMTH00099.
TreeFamTF343435.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

BgeeP00414.
GenevestigatorP00414.

Family and domain databases

Gene3D1.20.120.80. 1 hit.
InterProIPR024791. Cyt_c/ubiquinol_Oxase_su3.
IPR000298. Cyt_c_oxidase_su3.
IPR013833. Cyt_c_oxidase_su3_a-hlx.
[Graphical view]
PANTHERPTHR11403. PTHR11403. 1 hit.
PfamPF00510. COX3. 1 hit.
[Graphical view]
SUPFAMSSF81452. SSF81452. 1 hit.
PROSITEPS50253. COX3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiMT-CO3.
NextBio17434.
PROP00414.
SOURCESearch...

Entry information

Entry nameCOX3_HUMAN
AccessionPrimary (citable) accession number: P00414
Secondary accession number(s): Q14Y83
Entry history
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: May 30, 2000
Last modified: April 16, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations