UQCRC1

Chr 3p21.31

ubiquinol-cytochrome c reductase core protein 1

Aliases:: D3S3191, QCR1, UQCR1
MANE:: ENST00000203407.6

OMIM: 191328 ↗NCBI: 7384 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UQCRC1 · P31930

v62025-08-01

Predicted Aligned Error matrix for UQCRC1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

91.4/ 100

Very high

480 residues

Confidence breakdown

Very high(≥ 90)86%
Confident(70–90)7%
Low(50–70)1%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Adult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorder with complex III deficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Possible mitochondrial disorder - nuclear genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

parkinsonism with polyneuropathy
0.64
neurodegenerative disease
0.57
Parkinson disease
0.52
Alzheimer disease
0.52
multiple sclerosis
0.50
lysosomal storage disease
0.50
hypertrophic cardiomyopathy
0.26
pachyonychia congenita
0.06
neoplasm
0.05
nonpapillary renal cell carcinoma
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cytochrome b-c1 complex subunit 1, mitochondrial

Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c (By similarity). The 2 core subunits UQCRC1/QCR1 and UQCRC2/QCR2 are homologous to the 2 mitochondrial-processing peptidase (MPP) subunits beta-MPP and alpha-MPP respectively, and they seem to have preserved their MPP processing properties (By similarity). May be involved in the in situ processing of UQCRFS1 into the mature Rieske protein and its mitochondrial targeting sequence (MTS)/subunit 9 when incorporated into complex III (Probable). Seems to play an important role in the maintenance of proper mitochondrial function in nigral dopaminergic neurons (PubMed:33141179)