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Protein

Cytochrome c oxidase assembly factor 6 homolog

Gene

COA6

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

Functioni

Involved in the maturation of the mitochondrial respiratory chain complex IV subunit MT-CO2/COX2. Thereby, may regulate early steps of complex IV assembly. Mitochondrial respiratory chain complex IV or cytochrome c oxidase is the component of the respiratory chain that catalyzes the transfer of electrons from intermembrane space cytochrome c to molecular oxygen in the matrix and as a consequence contributes to the proton gradient involved in mitochondrial ATP synthesis. May also be required for efficient formation of respiratory supercomplexes comprised of complexes III and IV.3 Publications

GO - Molecular functioni

  • copper ion binding Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly factor 6 homolog
Gene namesi
Name:COA6
Synonyms:C1orf31
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000168275.14
HGNCiHGNC:18025 COA6
MIMi614772 gene
neXtProtiNX_Q5JTJ3

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

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn infantile disorder with a fatal course in the first weeks of life, characterized by hypertrophic cardiomyopathy, left ventricular non-compaction, lactic acidosis, metabolic hypotonia, and mitochondrial complex IV deficiency.
See also OMIM:616501
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07504659W → C in CEMCOX4; mistargeted to the mitochondrial matrix; loss of interaction with SCO2 and MT-CO2. 2 Publications1
Natural variantiVAR_07504766W → R in CEMCOX4. 1 PublicationCorresponds to variant dbSNP:rs875989827Ensembl.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi388753
MalaCardsiCOA6
MIMi616501 phenotype
OpenTargetsiENSG00000168275
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
PharmGKBiPA25617

Polymorphism and mutation databases

BioMutaiCOA6
DMDMi74742178

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002803991 – 125Cytochrome c oxidase assembly factor 6 homologAdd BLAST125
Isoform 3 (identifier: Q5JTJ3-3)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi58 ↔ 90PROSITE-ProRule annotation
Disulfide bondi68 ↔ 79PROSITE-ProRule annotation
Isoform 3 (identifier: Q5JTJ3-3)
Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation, Disulfide bond

Proteomic databases

EPDiQ5JTJ3
MaxQBiQ5JTJ3
PaxDbiQ5JTJ3
PeptideAtlasiQ5JTJ3
PRIDEiQ5JTJ3
ProteomicsDBi63221
63222 [Q5JTJ3-2]
63223 [Q5JTJ3-3]

PTM databases

iPTMnetiQ5JTJ3
PhosphoSitePlusiQ5JTJ3

Expressioni

Gene expression databases

BgeeiENSG00000168275 Expressed in 202 organ(s), highest expression level in caudate nucleus
CleanExiHS_C1orf31
ExpressionAtlasiQ5JTJ3 baseline and differential
GenevisibleiQ5JTJ3 HS

Organism-specific databases

HPAiHPA028588

Interactioni

Subunit structurei

Interacts with COA1 (PubMed:22356826). Found in a complex with TMEM177, COX20, MT-CO2/COX2, COX18, SCO1 and SCO2 (PubMed:29154948). Interacts with MT-CO2/COX2 and SCO2 (PubMed:25959673). Interacts with SCO1 (PubMed:26160915). Interacts with COX20 in a MT-CO2/COX2- and COX18-dependent manner (PubMed:29154948, PubMed:28330871). Interacts with COX16 (PubMed:29381136).5 Publications

Protein-protein interaction databases

BioGridi132839, 5 interactors
IntActiQ5JTJ3, 11 interactors
STRINGi9606.ENSP00000355572

Structurei

3D structure databases

ProteinModelPortaliQ5JTJ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini55 – 98CHCHPROSITE-ProRule annotationAdd BLAST44

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi58 – 68Cx9C motifPROSITE-ProRule annotationAdd BLAST11
Motifi79 – 90Cx10C motifPROSITE-ProRule annotationAdd BLAST12

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3057 Eukaryota
ENOG41121WM LUCA
GeneTreeiENSGT00390000004094
HOGENOMiHOG000196422
HOVERGENiHBG056284
InParanoidiQ5JTJ3
KOiK18179
OMAiRDEYWRC
PhylomeDBiQ5JTJ3
TreeFamiTF335992

Family and domain databases

CDDicd00926 Cyt_c_Oxidase_VIb, 1 hit
Gene3Di1.10.10.140, 1 hit
InterProiView protein in InterPro
IPR003213 Cyt_c_oxidase_su6B
IPR036549 Cyt_c_oxidase_su6B_sf
PANTHERiPTHR11387 PTHR11387, 1 hit
PfamiView protein in Pfam
PF02297 COX6B, 1 hit
SUPFAMiSSF47694 SSF47694, 1 hit
PROSITEiView protein in PROSITE
PS51808 CHCH, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5JTJ3-1) [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
MGPGGPLLSP SRGFLLCKTG WHSNRLLGDC GPHTPVSTAL SFIAVGMAAP
60 70 80 90 100
SMKERQVCWG ARDEYWKCLD ENLEDASQCK KLRSSFESSC PQQWIKYFDK
110 120
RRDYLKFKEK FEAGQFEPSE TTAKS
Length:125
Mass (Da):14,116
Last modified:February 15, 2005 - v1
Checksum:i69192034A460F462
GO
Isoform 2 (identifier: Q5JTJ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MGPGGPLLSP...GPHTPVSTAL → MVARKGQKSP...RKEAGRGRAE

Note: Gene prediction based on EST data.
Show »
Length:155
Mass (Da):18,007
Checksum:iF6308A32A6979DEE
GO
Isoform 3 (identifier: Q5JTJ3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.

Note: Gene prediction based on EST data.Combined sources
Show »
Length:79
Mass (Da):9,428
Checksum:iE743974EE94DA3FE
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
X6R5Z6X6R5Z6_HUMAN
Cytochrome c oxidase assembly facto...
COA6
155Annotation score:

Sequence cautioni

The sequence AAH25793 differs from that shown. Contaminating sequence.Curated
The sequence AAH25793 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07504659W → C in CEMCOX4; mistargeted to the mitochondrial matrix; loss of interaction with SCO2 and MT-CO2. 2 Publications1
Natural variantiVAR_07504766W → R in CEMCOX4. 1 PublicationCorresponds to variant dbSNP:rs875989827Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0236551 – 46Missing in isoform 3. CuratedAdd BLAST46
Alternative sequenceiVSP_0236561 – 40MGPGG…VSTAL → MVARKGQKSPRFRRVSCFLR LGRSTLLELEPAGRPCSGRT RHRALHRRLVACVTVSSRRH RKEAGRGRAE in isoform 2. CuratedAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355472 Genomic DNA No translation available.
BC025793 mRNA Translation: AAH25793.1 Sequence problems.
BC116455 mRNA Translation: AAI16456.1
CCDSiCCDS31059.1 [Q5JTJ3-1]
CCDS55690.1 [Q5JTJ3-3]
RefSeqiNP_001013003.1, NM_001012985.2 [Q5JTJ3-1]
NP_001288662.1, NM_001301733.1 [Q5JTJ3-3]
UniGeneiHs.23198

Genome annotation databases

EnsembliENST00000366612; ENSP00000355571; ENSG00000168275 [Q5JTJ3-3]
ENST00000366613; ENSP00000355572; ENSG00000168275 [Q5JTJ3-1]
ENST00000366615; ENSP00000355574; ENSG00000168275 [Q5JTJ3-2]
ENST00000619305; ENSP00000479686; ENSG00000168275 [Q5JTJ3-3]
GeneIDi388753
KEGGihsa:388753
UCSCiuc001hwc.4 human [Q5JTJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

LOVD-Leiden Open Variation Database

cytochrome c oxidase assembly factor 6 homolog (S. cerevisiae) (COA6)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355472 Genomic DNA No translation available.
BC025793 mRNA Translation: AAH25793.1 Sequence problems.
BC116455 mRNA Translation: AAI16456.1
CCDSiCCDS31059.1 [Q5JTJ3-1]
CCDS55690.1 [Q5JTJ3-3]
RefSeqiNP_001013003.1, NM_001012985.2 [Q5JTJ3-1]
NP_001288662.1, NM_001301733.1 [Q5JTJ3-3]
UniGeneiHs.23198

3D structure databases

ProteinModelPortaliQ5JTJ3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi132839, 5 interactors
IntActiQ5JTJ3, 11 interactors
STRINGi9606.ENSP00000355572

PTM databases

iPTMnetiQ5JTJ3
PhosphoSitePlusiQ5JTJ3

Polymorphism and mutation databases

BioMutaiCOA6
DMDMi74742178

Proteomic databases

EPDiQ5JTJ3
MaxQBiQ5JTJ3
PaxDbiQ5JTJ3
PeptideAtlasiQ5JTJ3
PRIDEiQ5JTJ3
ProteomicsDBi63221
63222 [Q5JTJ3-2]
63223 [Q5JTJ3-3]

Protocols and materials databases

DNASUi388753
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366612; ENSP00000355571; ENSG00000168275 [Q5JTJ3-3]
ENST00000366613; ENSP00000355572; ENSG00000168275 [Q5JTJ3-1]
ENST00000366615; ENSP00000355574; ENSG00000168275 [Q5JTJ3-2]
ENST00000619305; ENSP00000479686; ENSG00000168275 [Q5JTJ3-3]
GeneIDi388753
KEGGihsa:388753
UCSCiuc001hwc.4 human [Q5JTJ3-1]

Organism-specific databases

CTDi388753
DisGeNETi388753
EuPathDBiHostDB:ENSG00000168275.14
GeneCardsiCOA6
HGNCiHGNC:18025 COA6
HPAiHPA028588
MalaCardsiCOA6
MIMi614772 gene
616501 phenotype
neXtProtiNX_Q5JTJ3
OpenTargetsiENSG00000168275
Orphaneti1561 Fatal infantile cytochrome C oxidase deficiency
PharmGKBiPA25617
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3057 Eukaryota
ENOG41121WM LUCA
GeneTreeiENSGT00390000004094
HOGENOMiHOG000196422
HOVERGENiHBG056284
InParanoidiQ5JTJ3
KOiK18179
OMAiRDEYWRC
PhylomeDBiQ5JTJ3
TreeFamiTF335992

Enzyme and pathway databases

ReactomeiR-HSA-1268020 Mitochondrial protein import

Miscellaneous databases

ChiTaRSiCOA6 human
GenomeRNAii388753
PROiPR:Q5JTJ3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168275 Expressed in 202 organ(s), highest expression level in caudate nucleus
CleanExiHS_C1orf31
ExpressionAtlasiQ5JTJ3 baseline and differential
GenevisibleiQ5JTJ3 HS

Family and domain databases

CDDicd00926 Cyt_c_Oxidase_VIb, 1 hit
Gene3Di1.10.10.140, 1 hit
InterProiView protein in InterPro
IPR003213 Cyt_c_oxidase_su6B
IPR036549 Cyt_c_oxidase_su6B_sf
PANTHERiPTHR11387 PTHR11387, 1 hit
PfamiView protein in Pfam
PF02297 COX6B, 1 hit
SUPFAMiSSF47694 SSF47694, 1 hit
PROSITEiView protein in PROSITE
PS51808 CHCH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOA6_HUMAN
AccessioniPrimary (citable) accession number: Q5JTJ3
Secondary accession number(s): Q5JTJ2, Q5JTJ4, Q8TA88
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: February 15, 2005
Last modified: November 7, 2018
This is version 115 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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