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Protein

Cytochrome c oxidase assembly factor 6 homolog

Gene

COA6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • plasma membrane ATP synthesis coupled electron transport Source: UniProtKB
  • respiratory chain complex IV assembly Source: UniProtKB

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.

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.
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.

PTM databases

iPTMnetiQ5JTJ3.
PhosphoSitePlusiQ5JTJ3.

Expressioni

Gene expression databases

BgeeiENSG00000168275.
CleanExiHS_C1orf31.
ExpressionAtlasiQ5JTJ3. baseline and differential.
GenevisibleiQ5JTJ3. HS.

Organism-specific databases

HPAiHPA028588.

Interactioni

Subunit structurei

Interacts with COA1 (PubMed:22356826). Interacts with MT-CO2 (PubMed:25959673). Interacts with SCO2 (PubMed:25959673). Interacts with SCO1 (PubMed:26160915).3 Publications

Protein-protein interaction databases

BioGridi132839. 2 interactors.
IntActiQ5JTJ3. 3 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.
OMAiEKVPSAC.
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

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...KEAGRGRAES

Note: Gene prediction based on EST data.
Show »
Length:156
Mass (Da):18,094
Checksum:i9D5D3FA9B17E51E7
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

Sequence cautioni

Q5JTJ3: The sequence AAH25793 differs from that shown. Contaminating sequence.Curated
Q5JTJ3: 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 RKEAGRGRAES in isoform 2. CuratedAdd BLAST40

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL355472 Genomic DNA. Translation: CAI22928.1.
AL355472 Genomic DNA. Translation: CAI22929.1.
AL355472 Genomic DNA. Translation: CAI22930.1.
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]
ENST00000619305; ENSP00000479686; ENSG00000168275. [Q5JTJ3-3]
GeneIDi388753.
KEGGihsa:388753.
UCSCiuc001hwc.4. human. [Q5JTJ3-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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: October 25, 2017
This is version 105 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. 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