Identity
HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
BFZB,C20orf44,CBP3,UQCC
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55245
MIM: 611797
HGNC: 15891
Ensembl: ENSG00000101019
Variants:
dbSNP: 55245
ClinVar: 55245
TCGA: ENSG00000101019
COSMIC: UQCC1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25848760 | 2015 | A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH. | 19 |
| 25848760 | 2015 | A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH. | 19 |
| 25008109 | 2014 | A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. | 34 |
| 25008109 | 2014 | A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. | 34 |
| 23207799 | 2013 | Genome-wide association study identified UQCC locus for spine bone size in humans. | 11 |
| 24385928 | 2013 | Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. | 49 |
| 23207799 | 2013 | Genome-wide association study identified UQCC locus for spine bone size in humans. | 11 |
| 24385928 | 2013 | Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. | 49 |
| 21043486 | 2011 | Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts. | 17 |
| 21077742 | 2011 | Expression of tumor-associated macrophages and vascular endothelial growth factor correlates with poor prognosis of peripheral T-cell lymphoma, not otherwise specified. | 16 |
| 21110828 | 2011 | Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers. | 24 |
| 21208810 | 2011 | Serum VEGF levels and tissue activation of VEGFR2/KDR receptors in patients with breast and gynecologic cancer. | 8 |
| 21224470 | 2011 | The VEGF-regulated transcription factor HLX controls the expression of guidance cues and negatively regulates sprouting of endothelial cells. | 20 |
| 21043486 | 2011 | Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts. | 17 |
| 21077742 | 2011 | Expression of tumor-associated macrophages and vascular endothelial growth factor correlates with poor prognosis of peripheral T-cell lymphoma, not otherwise specified. | 16 |
Citation
Dessen P
UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-02-01
Online version: http://atlasgeneticsoncology.org/gene/51333/uqcc1-(ubiquinol-cytochrome-c-reductase-complex-assembly-factor-1)
