UQCRC1 (ubiquinol-cytochrome c reductase core protein 1)

2007-02-01  

Identity

HGNC
UQCRC1
LOCATION
3p21.31
LOCUSID
7384
ALIAS
D3S3191,PKNPY,QCR1,UQCR1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7384
MIM: 191328
HGNC: 12585
Ensembl: ENSG00000010256

Variants:

dbSNP: 7384
ClinVar: 7384
TCGA: ENSG00000010256
COSMIC: UQCRC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000010256ENST00000203407P31930
ENSG00000010256ENST00000412343F8WEF1
ENSG00000010256ENST00000415995F8WER5

Expression (GTEx)

0
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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 complexKEGGhsa_M00152
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379843142024Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.0
379843142024Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson's disease.0
332488042021Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.4
332488042021Lack of evidence for association of UQCRC1 with Parkinson's disease in Europeans.4
326666682020The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.2
331411792020Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.18
326666682020The lack of association between ubiquinol-cytochrome c reductase core protein I (UQCRC1) variants and Parkinson's disease in an eastern Chinese population.2
331411792020Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.18
312764652019RNA Sequencing of Osteosarcoma Gene Expression Profile Revealed that miR-214-3p Facilitates Osteosarcoma Cell Proliferation via Targeting Ubiquinol-Cytochrome c Reductase Core Protein 1 (UQCRC1).7
312764652019RNA Sequencing of Osteosarcoma Gene Expression Profile Revealed that miR-214-3p Facilitates Osteosarcoma Cell Proliferation via Targeting Ubiquinol-Cytochrome c Reductase Core Protein 1 (UQCRC1).7
269432372016Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.8
278459022016Systematic expression analysis of the mitochondrial complex III subunits identifies UQCRC1 as biomarker in clear cell renal cell carcinoma.13
269432372016Association of gene expression and methylation of UQCRC1 to the predisposition of Alzheimer's disease in a Chinese population.8
278459022016Systematic expression analysis of the mitochondrial complex III subunits identifies UQCRC1 as biomarker in clear cell renal cell carcinoma.13
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20

Citation

Dessen P

UQCRC1 (ubiquinol-cytochrome c reductase core protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46522/teaching-explorer/js/css/lib/dataTables.bootstrap.min.css