Gene Gene information from NCBI Gene database.
Entrez ID 27089
Gene name Ubiquinol-cytochrome c reductase complex III subunit VII
Gene symbol UQCRQ
Synonyms (NCBI Gene)
MC3DN4QCR8QP-CQPCUQCR7
Chromosome 5
Chromosome location 5q31.1
Summary This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq,
miRNA miRNA information provided by mirtarbase database.
330
miRTarBase ID miRNA Experiments Reference
MIRT020113 hsa-miR-130b-3p Sequencing 20371350
MIRT025979 hsa-miR-148a-3p Sequencing 20371350
MIRT044341 hsa-miR-106b-5p CLASH 23622248
MIRT041651 hsa-miR-484 CLASH 23622248
MIRT041651 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612080 29594 ENSG00000164405
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14949
Protein name Cytochrome b-c1 complex subunit 8 (Complex III subunit 8) (Complex III subunit VIII) (Ubiquinol-cytochrome c reductase complex 9.5 kDa protein) (Ubiquinol-cytochrome c reductase complex ubiquinone-binding protein QP-C)
Protein function 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 complex
PDB 5XTE , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02939 UcrQ 4 79 UcrQ family Family
Sequence
Sequence length 82
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
LEIGH SYNDROME ClinGen
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY CTD, Disgenet
CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mitochondrial complex III deficiency nuclear type 1 Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mitochondrial complex III deficiency nuclear type 4 Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign ClinVar
ClinVar, GenCC
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 24369324 Associate
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 28697555
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Hepatitis C Chronic Hepatitis c Pubtator 24369324 Stimulate
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 32302684 Associate
★☆☆☆☆
Found in Text Mining only
Hypoglycemia Hypoglycemia BEFREE 12709789
★☆☆☆☆
Found in Text Mining only
Isolated complex III deficiency Isolated Complex III Deficiency Orphanet
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Kidney disease Pubtator 35341793 Associate
★☆☆☆☆
Found in Text Mining only
Leigh Disease Leigh Syndrome CLINGEN_DG 18439546, 25613900
★☆☆☆☆
Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY Leigh Syndrome CLINGEN_DG 18439546, 25613900
★☆☆☆☆
Found in Text Mining only