Property Summary

NCBI Gene PubMed Count 33
Grant Count 1
Funding $107,333.33
PubMed Score 20.20
PubTator Score 15.98

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Synonym

Accession Q9NVA1 B1AKV5 Q0VF37 Q5T348 Q5T351 Q5T353 Q86YU3 Q86YU4 Q96H66 Q9H438 Q9H452 Q9H9K8 Q9H9R5
Symbols BFZB
CBP3
UQCC
C20orf44

Gene

 Grant Application (1)

Gene RIF (17)

PMID Text
25848760 Single nucleotide polymorphism in UQCC is associated with developmental dysplasia of the hip.
25008109 UQCC3 is reduced in cells depleted for the complex III assembly factors UQCC1 and UQCC2. Conversely, absence of UQCC3 in patient cells does not affect UQCC1 and UQCC2.
24385928 This work provides insight into human complex III assembly by establishing that UQCC1 and UQCC2 are complex III assembly factors participating in cytochrome b biogenesis.
23207799 study identified a novel locus, i.e., the UQCC gene, for spine BS variation in humans. Future functional studies will contribute to elucidating the mechanisms by which UQCC regulates bone growth and development
21224470 These data suggest that HLX may function to balance attractive with repulsive vessel guidance by up-regulating UNC5B and to down-modulate sprouting under normoxic conditions.
21208810 Data show that high serum VEGF levels are closely related to the activation status of the VEGFR2/KDR receptor in cancer cells, indicating a stimulatory effect of serum VEGF on the VEGF pathway contributing to tumor progression.
21110828 Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers.
21077742 High VEGF is associated with peripheral T-cell lymphoma.
21043486 Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.
20877624 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MALLVRVLRNQTSISQWVPVCSRLIPVSPTQGQGDRALSRTSQWPQMSQSRACGGSEQIPGIDIQLNRKY      1 - 70
HTTRKLSTTKDSPQPVEEKVGAFTKIIEAMGFTGPLKYSKWKIKIAALRMYTSCVEKTDFEEFFLRCQMP     71 - 140
DTFNSWFLITLLHVWMCLVRMKQEGRSGKYMCRIIVHFMWEDVQQRGRVMGVNPYILKKNMILMTNHFYA    141 - 210
AILGYDEGILSDDHGLAAALWRTFFNRKCEDPRHLELLVEYVRKQIQYLDSMNGEDLLLTGEVSWRPLVE    211 - 280
KNPQSILKPHSPTYNDEGL                                                       281 - 299
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Publication (36)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25848760 2015 A common variant of ubiquinol-cytochrome c reductase complex is associated with DDH.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25008109 2014 A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.
24385928 2013 Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.
23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.
23207799 2013 Genome-wide association study identified UQCC locus for spine bone size in humans.
21269460 2011 Initial characterization of the human central proteome.
21224470 2011 The VEGF-regulated transcription factor HLX controls the expression of guidance cues and negatively regulates sprouting of endothelial cells.
21208810 2011 Serum VEGF levels and tissue activation of VEGFR2/KDR receptors in patients with breast and gynecologic cancer.
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