UQCRFS1

Chr 19AR

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Also known as: MC3DN10, RIP1, RIS1, RISP, UQCR5

NCBI Gene: 7386ENSG00000169021UniProt: P47985

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →

Primary Disease Associations & Inheritance

Mitochondrial complex III deficiency, nuclear type 10MIM #618775
AR
0
Active trials
7
Pubs (1 yr)
17
P/LP submissions
8%
P/LP missense
0.95
LOEUF
LOF
Mechanism· G2P
Clinical Summary— UQCRFS1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 32 VUS of 56 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.95LOEUF
pLI 0.189
Z-score 1.67
OE 0.30 (0.12–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.83Z-score
OE missense 0.56 (0.46–0.67)
75 obs / 134.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.30 (0.12–0.95)
0≤0.351.4
Missense OE0.56 (0.46–0.67)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 2 / 6.6Missense obs/exp: 75 / 134.9Syn Z: 0.03
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
strongUQCRFS1-related mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalisLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.6357th %ile
GOF
0.5169th %ile
LOF
0.4627th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

56 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic2
VUS32
Likely Benign7
Benign3
11
Pathogenic
2
Likely Pathogenic
32
VUS
7
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
9
0
11
Likely Pathogenic
0
0
2
0
2
VUS
0
26
6
0
32
Likely Benign
0
5
0
2
7
Benign
0
1
0
2
3
Total13317455

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

UQCRFS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients