UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1)

2007-02-01  

Identity

HGNC
LOCATION
19q12
LOCUSID
ALIAS
MC3DN10,RIP1,RIS1,RISP,UQCR5
FUSION GENES

Other Information

Locus ID:

NCBI: 7386
MIM: 191327
HGNC: 12587
Ensembl: ENSG00000169021

Variants:

dbSNP: 7386
ClinVar: 7386
TCGA: ENSG00000169021
COSMIC: UQCRFS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169021ENST00000304863P47985

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Metabolic pathwaysKEGGhsa01100
Cytochrome bc1 complex respiratory unitKEGGhsa_M00151
Cytochrome bc1 complexKEGGhsa_M00152
Cytochrome bc1 complex respiratory unitKEGGM00151
Cytochrome bc1 complexKEGGM00152
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219011412011Impaired OXPHOS complex III in breast cancer.34
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
150472142004Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples.12
286735442017TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.12
318836412020Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.0

Citation

Dessen P

UQCRFS1 (ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45816/uqcrfs1