COQ7 - coenzyme Q7, hydroxylase Gene
Also Known as CAT5; CLK1; CLK-1; COQ10D8
Species: Homo sapiens
About COQ7
This gene has 11 transcripts (splice variants), 217 orthologues and is associated with 1 phenotype. Ubiquitous expression in prostate (RPKM 5.8), thyroid (RPKM 5.3) and 25 other tissues.
Summary
The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
COQ7 Products (9)
| mRNA | Protein | Name |
|---|---|---|
| NM_001190983.2 | NP_001177912.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2 |
| NM_001370489.1 | NP_001357418.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 3 |
| NM_001370490.1 | NP_001357419.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 4 |
| NM_001370491.1 | NP_001357420.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 5 |
| NM_001370492.1 | NP_001357421.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2 |
| NM_001370493.1 | NP_001357422.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2 |
| NM_001370494.1 | NP_001357423.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2 |
| NM_001370495.1 | NP_001357424.1 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 6 |
| NM_016138.5 | NP_057222.2 | 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables chromatin binding |
IDA
IDA: Inferred from direct assay
|
25961505 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25339443 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
25961505 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IMP
IMP: Inferred from mutant phenotype
|
25961505 | GOA |
| involved in regulation of reactive oxygen species metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
25961505 | GOA |
| involved in ubiquinone biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
28409910 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
27499296 | GOA |
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
25961505 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
25961505 | GOA |
| part of ubiquinone biosynthesis complex |
IPI
IPI: Inferred from physical interaction
|
27499296 | GOA |
COQ7 Protein Structure
COQ7: Ubiquinone biosynthesis protein COQ7 (48 - 217)
- 0
- 100
- 200
- 217 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
5-demethoxyubiquinone hydroxylase, mitochondrial |
|
COQ7 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
COQ7 | Q99807 | COQ3 | Homo sapiens | Q9NZJ6 | 27499296 | |
|
Intra
|
COQ7 | Q99807 | COQ4 | Homo sapiens | Q9Y3A0 | 27499296 | |
|
Intra
|
COQ7 | Q99807 | COQ5 | Homo sapiens | Q5HYK3 | 27499296 | |
|
Intra
|
COQ7 | Q99807 | COQ6 | Homo sapiens | Q9Y2Z9 | 27499296 | |
|
Intra
|
COQ7 | Q99807 | COQ9 | Homo sapiens | O75208 | 27499296 |
Recombinant COQ7 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70096 | COQ7 Protein, Human (HEK293, His) | Q99807-1 (S37-L217) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Coenzyme Q10 Deficiency, Primary, 8 |
|
|
| Coenzyme Q10 Deficiency, Primary, 7 |
|
|
| Coenzyme Q10 Deficiency Disease |
|
|
| Coenzyme Q10 Deficiency, Primary, 4 |
|
|
| Mitochondrial Myopathy |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Leigh Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | COQ7 | VGNC | VGNC:61098 |
| Bos taurus | COQ7 | VGNC | VGNC:27615 |
| Mus musculus | COQ7 | MGD | MGI:107207 |
| Rattus norvegicus | COQ7 | RGD | RGD:2381 |
| Canis familiaris | COQ7 | VGNC | VGNC:39522 |
| Others | COQ7 | NCBI |