UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1)

2010-02-01  

Identity

HGNC
LOCATION
20q11.22
LOCUSID
ALIAS
BFZB,C20orf44,CBP3,UQCC
FUSION GENES

Other Information

Locus ID:

NCBI: 55245
MIM: 611797
HGNC: 15891
Ensembl: ENSG00000101019

Variants:

dbSNP: 55245
ClinVar: 55245
TCGA: ENSG00000101019
COSMIC: UQCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101019ENST00000349714Q9NVA1
ENSG00000101019ENST00000359226B1AKV4
ENSG00000101019ENST00000374380Q9NVA1
ENSG00000101019ENST00000374384Q9NVA1
ENSG00000101019ENST00000374385Q9NVA1
ENSG00000101019ENST00000374385Q3KRB6
ENSG00000101019ENST00000374394F8WAM1
ENSG00000101019ENST00000397553H7C611
ENSG00000101019ENST00000397554B1AKV2
ENSG00000101019ENST00000397556F6UTR7
ENSG00000101019ENST00000424405B1AKV3
ENSG00000101019ENST00000438533B1AKV6
ENSG00000101019ENST00000443429F8WCR2
ENSG00000101019ENST00000453855H7BZM2
ENSG00000101019ENST00000457259H7C3C3
ENSG00000101019ENST00000491040D6RDV2

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
193431782009Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.112
192660772009Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.48
243859282013Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.26
200726572010Late release of circulating endothelial cells and endothelial progenitor cells after chemotherapy predicts response and survival in cancer patients.25
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
250081092014A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability.17
211108282011Current and potential anticancer drugs targeting members of the UHRF1 complex including epigenetic modifiers.16
210434862011Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.15
212244702011The VEGF-regulated transcription factor HLX controls the expression of guidance cues and negatively regulates sprouting of endothelial cells.15

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