Gene Gene information from NCBI Gene database.
Entrez ID 7386
Gene name Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Gene symbol UQCRFS1
Synonyms (NCBI Gene)
MC3DN10RIP1RIS1RISPUQCR5
Chromosome 19
Chromosome location 19q12
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1242465339 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs1568344751 C>G Pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
146
miRTarBase ID miRNA Experiments Reference
MIRT006517 hsa-miR-155-5p Luciferase reporter assayWestern blot 20550618
MIRT006517 hsa-miR-155-5p Luciferase reporter assayWestern blot 20550618
MIRT050913 hsa-miR-17-5p CLASH 23622248
MIRT044309 hsa-miR-106b-5p CLASH 23622248
MIRT039761 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 23168492, 27499296, 28380382, 33961781
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 31883641
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191327 12587 ENSG00000169021
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P47985
Protein name Cytochrome b-c1 complex subunit Rieske, mitochondrial (EC 7.1.1.8) (Complex III subunit 5) (Cytochrome b-c1 complex subunit 5) (Rieske iron-sulfur protein) (RISP) (Rieske protein UQCRFS1) (Ubiquinol-cytochrome c reductase iron-sulfur subunit) [Cleaved int
Protein function [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylati
PDB 5XTE , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09165 Ubiq-Cytc-red_N 2 76 Ubiquinol-cytochrome c reductase 8 kDa, N-terminal Domain
PF02921 UCR_TM 80 145 Ubiquinol cytochrome reductase transmembrane region Family
PF00355 Rieske 153 264 Rieske [2Fe-2S] domain Domain
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Efferocytosis
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.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy Pathogenic rs1568344751, rs1242465339, rs1568346416 RCV000758256
RCV000758562
RCV000758565
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lactic acidosis Pathogenic rs1568344751, rs1242465339 RCV000758256
RCV000758562
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex III deficiency, nuclear type 10 Pathogenic rs1568344751, rs1242465339, rs1568346416 RCV001003400
RCV001003402
RCV001003401
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Propionic acidemia Pathogenic rs1568344751, rs1242465339 RCV000758256
RCV000758562
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX III DEFICIENCY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute pancreatitis Pancreatitis BEFREE 28300832
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31661557
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 28087739
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 35432724, 35788655 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia BEFREE 28504706
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 25563840, 30842407
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 31101885
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15047214, 16280139, 21383699, 28404866
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21901141, 22433433 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 21282461
★☆☆☆☆
Found in Text Mining only