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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
55
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex III deficiency nuclear type 1 Likely benign; Uncertain significance rs67367845, rs886059916 RCV000293411
RCV000266419
Mitochondrial complex III deficiency nuclear type 4 Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs140851547, rs36093416, rs11544803, rs137995316, rs201606663, rs150139635, rs572786790, rs886059917, rs144996711, rs55767930, rs17624157, rs879668666, rs182167836, rs886059918, rs149048464
View all (33 more)
RCV001336185
RCV000284095
RCV000000765
RCV000765812
RCV005036635
RCV000376090
RCV000391132
RCV000299906
RCV000356950
RCV000299098
RCV000321398
RCV000272116
RCV000315188
RCV000294580
RCV000333224
RCV000323740
RCV000384412
RCV000345627
RCV000404082
RCV000405464
RCV000360846
RCV000268573
RCV000359534
RCV000336795
RCV000346050
RCV000287683
RCV000348971
RCV000329472
RCV000381714
RCV000385307
RCV001152109
RCV001152108
RCV001152110
RCV001153376
RCV001153377
RCV001153378
RCV001155983
RCV001155984
RCV001155985
RCV001155986
RCV001157699
RCV001157700
RCV001157701
RCV001157702
RCV001152212
RCV001152213
RCV001153502
RCV001153503
RCV001153504
RCV001153505
UQCRQ-related disorder Conflicting classifications of pathogenicity; Likely benign rs137995316, rs150139635, rs200567528 RCV003937746
RCV004757217
RCV003899404
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 24369324
Hepatitis C Chronic Stimulate 24369324
Huntington Disease Associate 32302684
Kidney Diseases Associate 35341793
Mitochondrial Complex III Deficiency Associate 18439546
Stomach Neoplasms Associate 32757436
Triple Negative Breast Neoplasms Associate 26103053