Gene Gene information from NCBI Gene database.
Entrez ID 7381
Gene name Ubiquinol-cytochrome c reductase binding protein
Gene symbol UQCRB
Synonyms (NCBI Gene)
MC3DN3QCR7QP-CQPCUQBCUQBPUQCR6UQPC
Chromosome 8
Chromosome location 8q22.1
Summary This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs139283183 A>T Conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs863224257 T>A Likely-pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, missense variant
rs863224258 C>A,T Likely-pathogenic Non coding transcript variant, stop gained, 3 prime UTR variant, missense variant, coding sequence variant
rs863224259 C>- Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886043294 TTTT>- Pathogenic 3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
380
miRTarBase ID miRNA Experiments Reference
MIRT042467 hsa-miR-423-3p CLASH 23622248
MIRT640375 hsa-miR-130b-5p HITS-CLIP 23824327
MIRT640374 hsa-miR-942-5p HITS-CLIP 23824327
MIRT640373 hsa-miR-3124-3p HITS-CLIP 23824327
MIRT640372 hsa-miR-627-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 28514442, 32296183, 32814053, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
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
191330 12582 ENSG00000156467
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P14927
Protein name Cytochrome b-c1 complex subunit 7 (Complex III subunit 7) (Complex III subunit VII) (QP-C) (Ubiquinol-cytochrome c reductase complex 14 kDa protein)
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
PF02271 UCR_14kD 8 106 Ubiquinol-cytochrome C reductase complex 14kD subunit Family
Sequence
Sequence length 111
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.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Malignant tumor of esophagus Likely benign rs77407648 RCV005904328
Mitochondrial complex III deficiency nuclear type 3 Benign; Conflicting classifications of pathogenicity; Likely benign rs2292835, rs886043294, rs139283183, rs145799884 RCV002243362
RCV004567831
RCV005396894
RCV001002413
UQCRB-related disorder Likely benign; Conflicting classifications of pathogenicity rs376891713, rs139283183, rs199928888, rs145799884 RCV003958830
RCV003967776
RCV003959661
RCV003918643
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Altitude Sickness Associate 32299499
Alzheimer Disease Associate 36405716
Carcinoma Hepatocellular Associate 30120311
Colonic Neoplasms Associate 22545919
Colorectal Neoplasms Associate 22545919, 29147009, 32071343
Glioma Associate 37091853
Lymphatic Metastasis Associate 22545919
Mitochondrial Complex III Deficiency Associate 29147009
Neoplasm Metastasis Associate 22545919
Ovarian Neoplasms Associate 22174824