COQ7 - coenzyme Q7, hydroxylase Gene

Also Known as CAT5; CLK1; CLK-1; COQ10D8

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10229

About COQ7

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:19,067,614-19,083,097 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COQ7 Protein Structure

COQ7

COQ7: Ubiquinone biosynthesis protein COQ7 (48 - 217)

  • 0
  • 100
  • 200
  • 217 a.a.
Protein Preferred Names Protein Names

5-demethoxyubiquinone hydroxylase, mitochondrial

  • COQ7 coenzyme Q, 7 homolog ubiquinone

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
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • COQ10D8

  • Primary Coenzyme Q10 Deficiency 8

Coenzyme Q10 Deficiency, Primary, 7
  • Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome

  • COQ10D7

  • Primary Coenzyme Q10 Deficiency 7

  • Coq4-Related Neonatal Encephalomyopathy

  • Coenzyme Q10 Deficiency, Primary, Type 7

Coenzyme Q10 Deficiency Disease
  • Coenzyme Q10 Deficiency

  • Coq10 Deficiency

  • Primary Coenzyme Q10 Deficiency

  • Coenzyme Q Deficiency

  • Coq Deficiency

  • Primary Coq10 Deficiency

  • Ubiquinone Deficiency

  • Coenzyme Q10 Deficiency, Primary

  • Coq10 Deficiency, Primary

Coenzyme Q10 Deficiency, Primary, 4
  • Scar9

  • Spinocerebellar Ataxia, Autosomal Recessive 9

  • Autosomal Recessive Ataxia Due To Ubiquinone Deficiency

  • COQ10D4

  • Arca2

  • Autosomal Recessive Cerebellar Ataxia Type 2

  • Primary Coenzyme Q10 Deficiency 4

  • Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency

  • Autosomal Recessive Spinocerebellar Ataxia Type 9

  • Autosomal Recessive Spinocerebellar Ataxia 9

  • Spinocerebellar Ataxia Autosomal Recessive 9

  • Coenzyme Q10 Deficiency, Primary, Type 4

  • Ataxia, Spinocerebellar, Autosomal Recessive, Type 9

Mitochondrial Myopathy
  • Mitochondrial Myopathies

  • Mitochondrial Cytopathy

  • Myopathies In Mitochondrial Disorders

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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