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

2010-02-01 Affiliation

Identity

HGNC

UQCC1

LOCATION

20q11.22

LOCUSID

55245

ALIAS

BFZB,C20orf44,CBP3,UQCC

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000101019	ENST00000349714	Q9NVA1
ENSG00000101019	ENST00000359226	B1AKV4
ENSG00000101019	ENST00000374380	Q9NVA1
ENSG00000101019	ENST00000374384	Q9NVA1
ENSG00000101019	ENST00000374385	Q9NVA1
ENSG00000101019	ENST00000374385	Q3KRB6
ENSG00000101019	ENST00000374394	F8WAM1
ENSG00000101019	ENST00000397553	H7C611
ENSG00000101019	ENST00000397554	B1AKV2
ENSG00000101019	ENST00000397556	F6UTR7
ENSG00000101019	ENST00000424405	B1AKV3
ENSG00000101019	ENST00000438533	B1AKV6
ENSG00000101019	ENST00000443429	F8WCR2
ENSG00000101019	ENST00000453855	H7BZM2
ENSG00000101019	ENST00000457259	H7C3C3
ENSG00000101019	ENST00000491040	D6RDV2

Expression (GTEx)

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

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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)