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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UQCC1
ubiquinol-cytochrome c reductase complex assembly factor 1
Chromosome 20 · 20q11.22
NCBI Gene: 55245Ensembl: ENSG00000101019.23HGNC: HGNC:15891UniProt: B7Z314
60PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmitochondrial respiratory chain complex III assemblymitochondrionmitochondrial inner membraneneurodegenerative diseasejoint diseaseAbnormality of the skeletal systemosteoarthritis
✦AI Summary

UQCC1 (ubiquinol-cytochrome c reductase complex assembly factor 1) is an essential mitochondrial protein required for the assembly of complex III of the respiratory chain 1. The protein functions as an assembly factor that interacts with UQCC2 and binds newly synthesized mitochondrial-encoded cytochrome b, facilitating its incorporation into the complex III holocomplex 1. UQCC1 works upstream in the complex III assembly pathway relative to UQCC3, as UQCC3 levels are reduced when UQCC1 is depleted 2. Beyond its mitochondrial role, UQCC1 has broader clinical significance. Genetic variants in UQCC1 show protective effects against non-alcoholic fatty liver disease, with the rs878639 G allele associated with lower liver fat content 3. However, elevated UQCC1 expression is causally associated with reduced muscle mass and function, contributing to sarcopenia pathogenesis 45. The gene also shows associations with developmental dysplasia of the hip and meniscus injury risk, where genetic variants may modulate TGF-β signaling pathways 67. These diverse associations suggest UQCC1 functions extend beyond mitochondrial complex III assembly to influence multiple pathological processes through both metabolic and signaling mechanisms.

Sources cited
1
UQCC1 is required for complex III assembly, interacts with UQCC2, and binds newly synthesized cytochrome b
PMID: 24385928
2
UQCC1 functions upstream of UQCC3 in the complex III assembly pathway
PMID: 25008109
3
UQCC1 rs878639 G allele is protective against fatty liver disease with lower liver fat content
PMID: 35829866
4
Elevated UQCC1 expression negatively regulates muscle quantity and quality
PMID: 39117060
5
UQCC1 is genetically associated with sarcopenia-related traits including grip strength and walking pace
PMID: 39825753
6
UQCC1 is associated with developmental dysplasia of the hip and chondrogenesis
PMID: 32244273
7
UQCC1 genetic variants are associated with meniscus injury risk and may modulate TGF-β signaling
PMID: 40971882
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.55Moderate
joint diseaseOpen Targets
0.39Weak
Abnormality of the skeletal systemOpen Targets
0.36Weak
osteoarthritisOpen Targets
0.34Weak
arthritisOpen Targets
0.32Weak
diaphragmatic herniaOpen Targets
0.31Weak
Hallux valgusOpen Targets
0.31Weak
osteoarthritis, kneeOpen Targets
0.30Weak
skin neoplasmOpen Targets
0.29Weak
actinic keratosisOpen Targets
0.29Weak
skin diseaseOpen Targets
0.29Weak
prostate carcinomaOpen Targets
0.29Weak
spinal stenosisOpen Targets
0.29Weak
ArthropathyOpen Targets
0.28Weak
cutaneous melanomaOpen Targets
0.28Weak
flatfootOpen Targets
0.27Weak
venous thromboembolismOpen Targets
0.27Weak
osteoarthritis, hipOpen Targets
0.27Weak
hair colorOpen Targets
0.26Weak
knee injuryOpen Targets
0.25Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UQCC4Shared pathway100%UQCRBProtein interaction100%GDF5Protein interaction87%BCS1LProtein interaction82%COX20Protein interaction70%LYRM7Protein interaction59%
Tissue Expression6 tissues
Heart
100%
Liver
50%
Brain
42%
Ovary
39%
Lung
32%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
UQCC1UQCC4UQCRBGDF5BCS1LCOX20LYRM7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q3KRB6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.14LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.62–1.14]
RankingsWhere UQCC1 stands among ~20K protein-coding genes
  • #7,721of 20,598
    Most Researched60
  • #11,827of 17,882
    Most Constrained (LOEUF)1.14
Genes detectedUQCC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Developmental Dysplasia of the Hip: A Review of Etiopathogenesis, Risk Factors, and Genetic Aspects.
PMID: 32244273
Medicina (Kaunas) · 2020
1.00
2
Identifying genetic determinants of sarcopenia-related traits: a Mendelian randomization study of druggable genes.
PMID: 39117060
Metabolism · 2024
0.90
3
Identification of Association Between Mitochondrial Dysfunction and Sarcopenia Using Summary-Data-Based Mendelian Randomization and Colocalization analyses.
PMID: 39825753
J Gerontol A Biol Sci Med Sci · 2025
0.80
4
Non-invasive evaluation of NAFLD and the contribution of genes: an MRI-PDFF-based cross-sectional study.
PMID: 35829866
Hepatol Int · 2022
0.70
5
Genetic Variants Related to TGF-β Signaling Pathway Modulate Risk of Meniscus Injury: A Multiancestry Genome-wide Association Study.
PMID: 40971882
Clin Orthop Relat Res · 2026
0.60