Q5HYK3 · COQ5_HUMAN
- Protein2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial
- GeneCOQ5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids327 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Methyltransferase required for the conversion of 2-polyprenyl-6-methoxy-1,4-benzoquinol (DDMQH2) to 2-polyprenyl-3-methyl-6-methoxy-1,4-benzoquinol (DMQH2).
Catalytic activity
- a 2-methoxy-6-all-trans-polyprenyl-1,4-benzoquinol + S-adenosyl-L-methionine = a 6-methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol + H+ + S-adenosyl-L-homocysteine
a 2-methoxy-6-all-trans-polyprenyl-1,4-benzoquinol RHEA-COMP:10858 + CHEBI:59789 = a 6-methoxy-3-methyl-2-all-trans-polyprenyl-1,4-benzoquinol RHEA-COMP:10859 + CHEBI:15378 + CHEBI:57856
Pathway
Cofactor biosynthesis; ubiquinone biosynthesis.
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | extrinsic component of mitochondrial inner membrane | |
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial matrix | |
Cellular Component | protein-containing complex | |
Cellular Component | ubiquinone biosynthesis complex | |
Molecular Function | 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity | |
Biological Process | methylation | |
Biological Process | ubiquinone biosynthetic process |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended name2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ5HYK3
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Coenzyme Q10 deficiency, primary, 9 (COQ10D9)
- Note
- DescriptionA form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life.
- See alsoMIM:619028
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_025702 | 152 | in dbSNP:rs3742049 | |||
Sequence: A → T |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 388 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-42 | Mitochondrion | ||||
Sequence: MAAPGSCALWSYCGRGWSRAMRGCQLLGLRSSWPGDLLSARL | ||||||
Chain | PRO_0000228628 | 43-327 | 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial | |||
Sequence: LSQEKRAAETHFGFETVSEEEKGGKVYQVFESVAKKYDVMNDMMSLGIHRVWKDLLLWKMHPLPGTQLLDVAGGTGDIAFRFLNYVQSQHQRKQKRQLRAQQNLSWEEIAKEYQNEEDSLGGSRVVVCDINKEMLKVGKQKALAQGYRAGLAWVLGDAEELPFDDDKFDIYTIAFGIRNVTHIDQALQEAHRVLKPGGRFLCLEFSQVNNPLISRLYDLYSFQVIPVLGEVIAGDWKSYQYLVESIRRFPSQEEFKDMIEDAGFHKVTYESLTSGIVAIHSGFKL |
Proteomic databases
PTM databases
Expression
Tissue specificity
Widely expressed, with highest levels in liver, lung, placenta and skeletal muscle.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Component of a multi-subunit COQ enzyme complex, composed of at least COQ3, COQ4, COQ5, COQ6, COQ7 and COQ9. Interacts with PYURF; the interaction is direct, stabilizes COQ5 protein and associates PYURF with COQ enzyme complex (PubMed:35614220).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q5HYK3 | COQ3 Q9NZJ6 | 7 | EBI-12577722, EBI-10897372 | |
BINARY | Q5HYK3 | COQ4 Q9Y3A0 | 6 | EBI-12577722, EBI-12284865 | |
BINARY | Q5HYK3 | COQ6 Q9Y2Z9 | 9 | EBI-12577722, EBI-718148 | |
BINARY | Q5HYK3 | COQ7 Q99807 | 7 | EBI-12577722, EBI-11017131 | |
BINARY | Q5HYK3 | COQ9 O75208 | 11 | EBI-12577722, EBI-724524 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length327
- Mass (Da)37,140
- Last updated2006-03-21 v2
- Checksum7D601DF6E74FFCC4
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 78 | in Ref. 4; CAI46073 | ||||
Sequence: K → R | ||||||
Sequence conflict | 171 | in Ref. 2; BAG38046 | ||||
Sequence: D → G | ||||||
Sequence conflict | 291 | in Ref. 6; AAH04916 | ||||
Sequence: F → S |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
EU700459 EMBL· GenBank· DDBJ | ACD75052.1 EMBL· GenBank· DDBJ | mRNA | ||
AK057777 EMBL· GenBank· DDBJ | BAB71567.1 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
AK222610 EMBL· GenBank· DDBJ | BAD96330.1 EMBL· GenBank· DDBJ | mRNA | ||
AK293656 EMBL· GenBank· DDBJ | BAG57105.1 EMBL· GenBank· DDBJ | mRNA | ||
AK315681 EMBL· GenBank· DDBJ | BAG38046.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
BX647562 EMBL· GenBank· DDBJ | CAI46073.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471054 EMBL· GenBank· DDBJ | EAW98198.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC004916 EMBL· GenBank· DDBJ | AAH04916.2 EMBL· GenBank· DDBJ | mRNA | ||
BC107874 EMBL· GenBank· DDBJ | AAI07875.1 EMBL· GenBank· DDBJ | mRNA |