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Aliases for UQCRFS1 Gene

Aliases for UQCRFS1 Gene

  • Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 1 2 3 5
  • Cytochrome B-C1 Complex Subunit 5 2 3 4
  • Ubiquinol-Cytochrome C Reductase Iron-Sulfur Subunit 3 4
  • Rieske Iron-Sulfur Protein 3 4
  • Complex III Subunit 5 3 4
  • EC 1.10.2.2 4 58
  • RISP 3 4
  • Cytochrome B-C1 Complex Subunit Rieske, Mitochondrial 3
  • UQCR5 3
  • RIP1 3
  • RIS1 3

External Ids for UQCRFS1 Gene

Previous GeneCards Identifiers for UQCRFS1 Gene

  • GC19M030318
  • GC19M030147
  • GC19M034374
  • GC19M034390
  • GC19M029698

Summaries for UQCRFS1 Gene

GeneCards Summary for UQCRFS1 Gene

UQCRFS1 (Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 1) is a Protein Coding gene. Diseases associated with UQCRFS1 include Amyotrophic Lateral Sclerosis 20. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include oxidoreductase activity and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot for UQCRFS1 Gene

  • Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.

  • The transit peptide of the Rieske protein seems to form part of the bc1 complex and is considered to be the subunit 11/IX of that complex.

Gene Wiki entry for UQCRFS1 Gene

Additional gene information for UQCRFS1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UQCRFS1 Gene

Genomics for UQCRFS1 Gene

Regulatory Elements for UQCRFS1 Gene

Enhancers for UQCRFS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H029263 0.7 ENCODE 11.2 -50.0 -50048 0.2 CTCF ZNF654 ZNF174 ZNF680 ZFP37 REST SALL2 ZNF2 RAD21 ZNF121 ENSG00000266910 UQCRFS1 GC19M029264 RN7SL340P
GH19H029264 0.7 ENCODE 11.2 -50.3 -50328 0.2 CTCF ZNF174 ZNF680 ZNF521 ZFP37 REST SALL2 ZNF2 ZNF121 GATA3 ENSG00000266910 UQCRFS1 GC19M029264 RN7SL340P
GH19H029211 1.1 ENCODE 6.7 +0.9 880 2.7 ARID4B SIN3A ZNF2 YY1 ZNF207 SP3 ZHX2 MXD4 REST KAT8 ENSG00000266910 RPL9P32 POP4 UQCRFS1 LOC105372352 GC19M029213 PIR40426
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UQCRFS1 on UCSC Golden Path with GeneCards custom track

Promoters for UQCRFS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108491 841 2201 ARID4B SIN3A ZNF2 YY1 ZNF207 SP3 ZHX2 MXD4 REST KAT8

Genomic Locations for UQCRFS1 Gene

Genomic Locations for UQCRFS1 Gene
chr19:29,205,321-29,213,541
(GRCh38/hg38)
Size:
8,221 bases
Orientation:
Minus strand
chr19:29,698,167-29,704,448
(GRCh37/hg19)

Genomic View for UQCRFS1 Gene

Genes around UQCRFS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UQCRFS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UQCRFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UQCRFS1 Gene

Proteins for UQCRFS1 Gene

  • Protein details for UQCRFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47985-UCRI_HUMAN
    Recommended name:
    Cytochrome b-c1 complex subunit Rieske, mitochondrial
    Protein Accession:
    P47985
    Secondary Accessions:
    • A8K519
    • Q6NVX5
    • Q9UPH2

    Protein attributes for UQCRFS1 Gene

    Size:
    274 amino acids
    Molecular mass:
    29668 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).
    Miscellaneous:
    • The Rieske protein is a high potential 2Fe-2S protein.

neXtProt entry for UQCRFS1 Gene

Selected DME Specific Peptides for UQCRFS1 Gene

P47985:
  • RPLVASV
  • RKGFSYLVT
  • NLEVPTY
  • KIEIKLSDIPEGKN
  • CTHLGCVP
  • GVCTHLGC
  • VGLNVPASV
  • GPAPLNL
  • SGPFAPVLSATSRGV
  • YEFTSDD
  • EVLDSTKSS
  • TKSSRESS
  • MSASADVLA
  • CPCHGSHYD
  • TTVGVAYAAKN

Post-translational modifications for UQCRFS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UQCRFS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for UQCRFS1 Gene

Gene Families for UQCRFS1 Gene

Suggested Antigen Peptide Sequences for UQCRFS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with UQCRFS1: view

No data available for UniProtKB/Swiss-Prot for UQCRFS1 Gene

Function for UQCRFS1 Gene

Molecular function for UQCRFS1 Gene

GENATLAS Biochemistry:
Rieske iron sulfur protein 1,subunit of cytochrome bc1 complex III,mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot CatalyticActivity:
Quinol + 2 ferricytochrome c = quinone + 2 ferrocytochrome c + 2 H(+).
UniProtKB/Swiss-Prot Function:
Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.
UniProtKB/Swiss-Prot Function:
The transit peptide of the Rieske protein seems to form part of the bc1 complex and is considered to be the subunit 11/IX of that complex.

Enzyme Numbers (IUBMB) for UQCRFS1 Gene

Phenotypes From GWAS Catalog for UQCRFS1 Gene

Gene Ontology (GO) - Molecular Function for UQCRFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23168492
GO:0008121 ubiquinol-cytochrome-c reductase activity IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016679 oxidoreductase activity, acting on diphenols and related substances as donors IEA --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with UQCRFS1: view
genes like me logo Genes that share phenotypes with UQCRFS1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UQCRFS1 Gene

Localization for UQCRFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UQCRFS1 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UQCRFS1 gene
Compartment Confidence
mitochondrion 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for UQCRFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III IEA,IDA 23168492
GO:0005751 mitochondrial respiratory chain complex IV IDA 23168492
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with UQCRFS1: view

Pathways & Interactions for UQCRFS1 Gene

genes like me logo Genes that share pathways with UQCRFS1: view

Gene Ontology (GO) - Biological Process for UQCRFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c TAS --
GO:0009725 response to hormone IEA --
GO:0042493 response to drug IEA --
GO:0046677 response to antibiotic IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with UQCRFS1: view

No data available for SIGNOR curated interactions for UQCRFS1 Gene

Drugs & Compounds for UQCRFS1 Gene

(14) Drugs for UQCRFS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-2 Experimental Pharma Target 0
(5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-NONYL-4-HYDROXYQUINOLINE N-OXIDE Experimental Pharma Target 0
5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE Experimental Pharma Target 0

(6) Additional Compounds for UQCRFS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
genes like me logo Genes that share compounds with UQCRFS1: view

Transcripts for UQCRFS1 Gene

mRNA/cDNA for UQCRFS1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(427) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UQCRFS1 Gene

Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UQCRFS1 Gene

No ASD Table

Relevant External Links for UQCRFS1 Gene

GeneLoc Exon Structure for
UQCRFS1
ECgene alternative splicing isoforms for
UQCRFS1

Expression for UQCRFS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UQCRFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UQCRFS1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.8) and Muscle - Skeletal (x4.8).

Protein differential expression in normal tissues from HIPED for UQCRFS1 Gene

This gene is overexpressed in Retina (6.6) and Heart (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UQCRFS1 Gene



Protein tissue co-expression partners for UQCRFS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of UQCRFS1 Gene:

UQCRFS1

SOURCE GeneReport for Unigene cluster for UQCRFS1 Gene:

Hs.743307

Evidence on tissue expression from TISSUES for UQCRFS1 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Lung(4.3)
  • Heart(3.1)
  • Muscle(2.9)
  • Liver(2.5)
  • Adrenal gland(2.1)
  • Blood(2.1)
  • Gall bladder(2.1)
  • Intestine(2.1)
  • Lymph node(2.1)
  • Pancreas(2.1)
  • Skin(2.1)
  • Spleen(2.1)
  • Stomach(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with UQCRFS1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UQCRFS1 Gene

Orthologs for UQCRFS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UQCRFS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 34
  • 99 (a)
OneToMany
UQCRFS1 33
  • 98.3 (n)
-- 34
  • 97 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia UQCRFS1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UQCRFS1 33 34
  • 87.23 (n)
rat
(Rattus norvegicus)
Mammalia Uqcrfs1 33
  • 85.89 (n)
oppossum
(Monodelphis domestica)
Mammalia UQCRFS1 34
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UQCRFS1 33 34
  • 84.88 (n)
mouse
(Mus musculus)
Mammalia Uqcrfs1 33 16 34
  • 84.67 (n)
chicken
(Gallus gallus)
Aves UQCRFS1 33 34
  • 73.9 (n)
lizard
(Anolis carolinensis)
Reptilia UQCRFS1 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcrfs1 33
  • 69.23 (n)
MGC76317 33
African clawed frog
(Xenopus laevis)
Amphibia uqcrfs1-prov 33
zebrafish
(Danio rerio)
Actinopterygii uqcrfs1 33 34 34
  • 65.93 (n)
wufb05d11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9102 33
fruit fly
(Drosophila melanogaster)
Insecta RFeSP 35 33 34
  • 62.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008955 33
  • 58.3 (n)
worm
(Caenorhabditis elegans)
Secernentea isp-1 33 34
  • 51.5 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL067W 33
  • 59.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIP1 33 34 36
  • 59.06 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22573g 33
  • 58.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G13440 33
  • 56.43 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.689 33
rice
(Oryza sativa)
Liliopsida Os04g0398500 33
  • 53.41 (n)
Os.6327 33
barley
(Hordeum vulgare)
Liliopsida Hv.3657 33
wheat
(Triticum aestivum)
Liliopsida Ta.13252 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rip1 33
  • 58.1 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06606 33
  • 57.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10532 34
  • 49 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5246 33
Species where no ortholog for UQCRFS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UQCRFS1 Gene

ENSEMBL:
Gene Tree for UQCRFS1 (if available)
TreeFam:
Gene Tree for UQCRFS1 (if available)

Paralogs for UQCRFS1 Gene

(2) SIMAP similar genes for UQCRFS1 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for UQCRFS1 Gene

genes like me logo Genes that share paralogs with UQCRFS1: view

No data available for Paralogs for UQCRFS1 Gene

Variants for UQCRFS1 Gene

Sequence variations from dbSNP and Humsavar for UQCRFS1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000205251 -- 29,212,557(+) CCCTA(C/G)AAAAT intron-variant, upstream-variant-2KB
rs1000696135 -- 29,210,091(+) AAGGA(A/G)TTTTA intron-variant
rs1001225396 -- 29,212,741(+) CACCA(A/G)AAAGA intron-variant, upstream-variant-2KB
rs1001615950 -- 29,209,797(+) TAAAA(A/G)CAGTA intron-variant
rs1001732861 -- 29,214,972(+) GAAAA(A/G)TGAAT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for UQCRFS1 Gene

Variant ID Type Subtype PubMed ID
nsv961205 CNV duplication 23825009
nsv579240 CNV gain 21841781
nsv2452 CNV insertion 18451855
nsv1061604 CNV loss 25217958
dgv1034e212 CNV loss 25503493

Variation tolerance for UQCRFS1 Gene

Residual Variation Intolerance Score: 53.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UQCRFS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UQCRFS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCRFS1 Gene

Disorders for UQCRFS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UQCRFS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 20
  • amyotrophic lateral sclerosis type 20
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for UQCRFS1

Genetic Association Database (GAD)
UQCRFS1
Human Genome Epidemiology (HuGE) Navigator
UQCRFS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UQCRFS1
genes like me logo Genes that share disorders with UQCRFS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UQCRFS1 Gene

Publications for UQCRFS1 Gene

  1. Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples. (PMID: 15047214) Ohashi Y … Young SR (Gynecologic oncology 2004) 3 22 45 60
  2. Assignment of the gene (UQCRFS1) for the Rieske iron-sulfur protein subunit of the mitochondrial cytochrome bc1 complex to the 22q13 and 19q12-q13.1 regions of the human genome. (PMID: 8088805) Duncan AM … Rozen R (Genomics 1994) 2 3 22 60
  3. The primary structure of human Rieske iron-sulfur protein of mitochondrial cytochrome bc1 complex deduced from cDNA analysis. (PMID: 2158323) Nishikimi M … Ozawa T (Biochemistry international 1990) 3 4 22 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60

Products for UQCRFS1 Gene

Sources for UQCRFS1 Gene

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