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Protein

Cytochrome c oxidase assembly protein COX20, mitochondrial

Gene

COX20

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

Functioni

Essential for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:23125284). Acts as a chaperone in the early steps of cytochrome c oxidase subunit II (MT-CO2/COX2) maturation, stabilizing the newly synthesized protein and presenting it to metallochaperones SCO1/2 which in turn facilitates the incorporation of the mature MT-CO2/COX2 into the assembling CIV holoenzyme (PubMed:24403053).2 Publications

GO - Biological processi

  • aerobic respiration Source: GO_Central
  • mitochondrial respiratory chain complex IV assembly Source: UniProtKB

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly protein COX20, mitochondrial
Gene namesi
Name:COX20
Synonyms:FAM36A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000203667.9
HGNCiHGNC:26970 COX20
MIMi614698 gene
neXtProtiNX_Q5RI15

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 33Mitochondrial intermembrane1 PublicationAdd BLAST32
Transmembranei34 – 51HelicalSequence analysisAdd BLAST18
Topological domaini52 – 60Mitochondrial matrix1 Publication9
Transmembranei61 – 77HelicalSequence analysisAdd BLAST17
Topological domaini78 – 118Mitochondrial intermembrane1 PublicationAdd BLAST41

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D)3 Publications
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_08012352T → P in MT-C4D; some patients manifest early-onset dystonia; reduced protein expression; defective mitochondrial respiratory chain complex IV assembly; decreased interaction with MT-CO2/COX2; increased interaction with TMEM177. 3 PublicationsCorresponds to variant dbSNP:rs587777004EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi116228
MalaCardsiCOX20
MIMi220110 phenotype
OpenTargetsiENSG00000203667
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA134976890

Polymorphism and mutation databases

BioMutaiCOX20
DMDMi71151875

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00001868152 – 118Cytochrome c oxidase assembly protein COX20, mitochondrialAdd BLAST117

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ5RI15
MaxQBiQ5RI15
PaxDbiQ5RI15
PeptideAtlasiQ5RI15
PRIDEiQ5RI15
ProteomicsDBi63739
63740 [Q5RI15-2]

PTM databases

iPTMnetiQ5RI15
PhosphoSitePlusiQ5RI15

Expressioni

Gene expression databases

BgeeiENSG00000203667
CleanExiHS_FAM36A
ExpressionAtlasiQ5RI15 baseline and differential
GenevisibleiQ5RI15 HS

Organism-specific databases

HPAiHPA043617
HPA045490

Interactioni

Subunit structurei

Found in a complex with TMEM177, COA6, MT-CO2/COX2, COX18, SCO1 and SCO2. Interacts with SCO1, SCO2 and COA6 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:29154948, PubMed:24403053, PubMed:28330871). Interacts with COX18 in a MT-CO2/COX2-dependent manner (PubMed:28330871). Interacts with MT-CO2/COX2 (PubMed:29154948, PubMed:24403053, PubMed:23125284, PubMed:28330871). Interacts with TMEM177 (PubMed:29154948).4 Publications

Protein-protein interaction databases

BioGridi125491, 12 interactors
IntActiQ5RI15, 6 interactors
MINTiQ5RI15
STRINGi9606.ENSP00000406327

Structurei

3D structure databases

ProteinModelPortaliQ5RI15
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the COX20 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J3VJ Eukaryota
ENOG4111Y8F LUCA
GeneTreeiENSGT00390000016158
HOGENOMiHOG000008535
HOVERGENiHBG054540
InParanoidiQ5RI15
KOiK18184
OMAiCGTIAYW
OrthoDBiEOG091G0ZPV
PhylomeDBiQ5RI15
TreeFamiTF323844

Family and domain databases

InterProiView protein in InterPro
IPR022533 Cox20
PANTHERiPTHR31586 PTHR31586, 1 hit
PfamiView protein in Pfam
PF12597 DUF3767, 1 hit
PRINTSiPR02049 PROTEINF36A

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5RI15-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAPPEPGEP EERKSLKLLG FLDVENTPCA RHSILYGSLG SVVAGFGHFL
60 70 80 90 100
FTSRIRRSCD VGVGGFILVT LGCWFHCRYN YAKQRIQERI AREEIKKKIL
110
YEGTHLDPER KHNGSSSN
Length:118
Mass (Da):13,291
Last modified:July 19, 2005 - v2
Checksum:i8D413FD148382A94
GO
Isoform 2 (identifier: Q5RI15-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     14-14: K → KASCTSLHLSYWK

Note: Gene prediction confirmed by EST data.
Show »
Length:130
Mass (Da):14,669
Checksum:i4913B08459483B9B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08012352T → P in MT-C4D; some patients manifest early-onset dystonia; reduced protein expression; defective mitochondrial respiratory chain complex IV assembly; decreased interaction with MT-CO2/COX2; increased interaction with TMEM177. 3 PublicationsCorresponds to variant dbSNP:rs587777004EnsemblClinVar.1
Natural variantiVAR_080124118N → S Neutral polymorphism. 1 PublicationCorresponds to variant dbSNP:rs61749963EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01485514K → KASCTSLHLSYWK in isoform 2. Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BX323046 Genomic DNA No translation available.
BC018519 mRNA Translation: AAH18519.1
BC062419 mRNA Translation: AAH62419.1
BC095486 mRNA Translation: AAH95486.1
CCDSiCCDS31080.1 [Q5RI15-1]
CCDS81434.1 [Q5RI15-2]
RefSeqiNP_001299800.1, NM_001312871.1 [Q5RI15-1]
NP_932342.1, NM_198076.5 [Q5RI15-1]
UniGeneiHs.411490

Genome annotation databases

EnsembliENST00000366528; ENSP00000355486; ENSG00000203667 [Q5RI15-2]
ENST00000411948; ENSP00000406327; ENSG00000203667 [Q5RI15-1]
GeneIDi116228
KEGGihsa:116228
UCSCiuc001iar.5 human [Q5RI15-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCOX20_HUMAN
AccessioniPrimary (citable) accession number: Q5RI15
Secondary accession number(s): Q8WV86
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: June 20, 2018
This is version 108 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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