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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
  • Cytochrome B-C1 Complex Subunit Rieske, Mitochondrial 3 4
  • Ubiquinol-Cytochrome C Reductase Iron-Sulfur Subunit 3 4
  • Rieske Iron-Sulfur Protein 3 4
  • Rieske Protein UQCRFS1 3 4
  • Complex III Subunit 5 3 4
  • RISP 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 1.10.2.2 56
  • EC 7.1.1.8 4
  • 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 Lactic Acidosis and Propionic Acidemia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot for UQCRFS1 Gene

  • Cytochrome b-c1 complex subunit Rieske, mitochondrial: Component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544).
  • Cytochrome b-c1 complex subunit 9: Possible component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer, including this fragment, called subunit 9, which corresponds to the transit peptide (PubMed:28673544). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function (PubMed:28673544). It is therefore unsure whether the UQCRFS1 fragments, including this fragment, are structural subunits (PubMed:28673544).

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

GeneHancer (GH) Regulatory Elements for UQCRFS1 Gene

Promoters and enhancers for UQCRFS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J029211 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 606.7 +0.7 715 3 ZNF473 ELF3 ZFX SIX5 POLR2A MLLT1 ZNF687 MYC ZBTB7A YY1 UQCRFS1 ENSG00000267498 PIR40426 LOC105372352 GC19M029213 ENSG00000266910 RPL9P32 POP4
GH19J029263 Enhancer 0.9 Ensembl ENCODE 11.2 -50.4 -50443 0.5 CTCF ZNF121 ELF1 ZNF174 ZNF680 RAD21 ZNF544 REST POLR2A SMC3 ENSG00000266910 UQCRFS1 GC19M029264 RN7SL340P
GH19J029248 Enhancer 0.5 Ensembl 11.6 -35.0 -34971 0.4 ZIC2 USF1 POLR2A ZFHX2 PRDM2 EGR2 UQCRFS1 RN7SL340P GC19M029264
GH19J029268 Enhancer 0.3 Ensembl 16.3 -56.3 -56272 1.8 ZNF740 UQCRFS1 ENSG00000267498 GC19M029264 RN7SL340P
GH19J029203 Enhancer 0.4 Ensembl 6.2 +9.2 9228 1.2 YY1 ZNF362 UQCRFS1 GC19M029213 PIR40426 GC19P029110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UQCRFS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UQCRFS1 gene promoter:
  • CUTL1
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-2
  • IRF-1
  • Nkx6-1
  • Pax-3
  • Pax-4a
  • RORalpha1

Genomic Locations for UQCRFS1 Gene

Genomic Locations for UQCRFS1 Gene
chr19:29,205,320-29,213,229
(GRCh38/hg38)
Size:
7,910 bases
Orientation:
Minus strand
chr19:29,698,167-29,704,448
(GRCh37/hg19)
Size:
6,282 bases
Orientation:
Minus strand

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:
    • Binds to the mitochondrial respiratory complex III dimer. The monomeric module of the mitochondrial respiratory complex III contains 11 subunits: 3 respiratory subunits involved in its catalytic activity (cytochrome b, cytochrome c1 and Rieske protein 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 subunit 9, the cleavage product of Rieske protein UQCRFS1) (By similarity). Incorporation of the Rieske protein UQCRFS1 is the penultimate step in complex III assembly (PubMed:28380382). Interacts with TTC19, which is involved in the clearance of UQCRFS1 fragments (PubMed:28673544).
    Miscellaneous:
    • The Rieske protein is a high potential 2Fe-2S protein.

    Three dimensional structures from OCA and Proteopedia for UQCRFS1 Gene

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

  • Proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer (PubMed:28673544). Several fragments are generated during UQCRFS1 insertion, most probably due to the endogenous matrix-processing peptidase (MPP) activity (PubMed:28673544). The action of the protease is also necessary for the clearance of the UQCRFS1 fragments (PubMed:28673544).
  • 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:
  • Ubiquinol-cytochrome c reductase iron-sulfur subunit (UCRI_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Cytochrome b-c1 complex subunit Rieske, mitochondrial: Component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544).
UniProtKB/Swiss-Prot Function:
Cytochrome b-c1 complex subunit 9: Possible component of the mitochondrial ubiquinol-cytochrome c reductase complex dimer (complex III dimer), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis (PubMed:28673544). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer, including this fragment, called subunit 9, which corresponds to the transit peptide (PubMed:28673544). The proteolytic processing is necessary for the correct insertion of UQCRFS1 in the complex III dimer, but the persistence of UQCRFS1-derived fragments may prevent newly imported UQCRFS1 to be processed and assembled into complex III and is detrimental for the complex III structure and function (PubMed:28673544). It is therefore unsure whether the UQCRFS1 fragments, including this fragment, are structural subunits (PubMed:28673544).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [Fe(III)cytochrome c](out) + a quinol = 2 [Fe(II)cytochrome c](out) + a quinone + 2 H(+)(out); Xref=Rhea:RHEA:11484, Rhea:RHEA-COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15378, ChEBI:CHEBI:24646, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:132124; EC=7.1.1.8;.
GENATLAS Biochemistry:
Rieske iron sulfur protein 1,subunit of cytochrome bc1 complex III,mitochondrial respiratory chain,oxidative phosphorylation (OXPHOS)

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 contributes_to ubiquinol-cytochrome-c reductase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016679 oxidoreductase activity, acting on diphenols and related substances as donors IEA --
GO:0046872 metal ion 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

  • Taconic Biosciences Mouse Models for UQCRFS1

CRISPR Products

miRNA for UQCRFS1 Gene

miRTarBase miRNAs that target UQCRFS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRFS1

Clone Products

  • Applied Biological Materials (abm): Clones for UQCRFS1 - Now 50% OFF >
  • * UQCRFS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UQCRFS1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
nucleus 1

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 IBA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005750 mitochondrial respiratory chain complex III 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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1426
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
QH2
  • CoQH2
  • Coenzymes QH2
  • 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 :
(9) Additional mRNA sequences :
(427) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for UQCRFS1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRFS1

Clone Products

  • Applied Biological Materials (abm): Clones for UQCRFS1 - Now 50% OFF >
  • * UQCRFS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * UQCRFS1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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, 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 -- 35
  • 99 (a)
OneToMany
UQCRFS1 34
  • 98.3 (n)
-- 35
  • 97 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia UQCRFS1 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UQCRFS1 35 34
  • 87.23 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Uqcrfs1 34
  • 85.89 (n)
oppossum
(Monodelphis domestica)
Mammalia UQCRFS1 35
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UQCRFS1 35 34
  • 84.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Uqcrfs1 17 35 34
  • 84.67 (n)
chicken
(Gallus gallus)
Aves UQCRFS1 35 34
  • 73.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UQCRFS1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia uqcrfs1 34
  • 69.23 (n)
MGC76317 34
African clawed frog
(Xenopus laevis)
Amphibia uqcrfs1-prov 34
zebrafish
(Danio rerio)
Actinopterygii uqcrfs1 35 35 34
  • 65.93 (n)
OneToMany
wufb05d11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9102 34
fruit fly
(Drosophila melanogaster)
Insecta RFeSP 35 36 34
  • 62.22 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008955 34
  • 58.3 (n)
worm
(Caenorhabditis elegans)
Secernentea isp-1 35 34
  • 51.5 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL067W 34
  • 59.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RIP1 37 35 34
  • 59.06 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E22573g 34
  • 58.77 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G13440 34
  • 56.43 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.689 34
rice
(Oryza sativa)
Liliopsida Os04g0398500 34
  • 53.41 (n)
Os.6327 34
barley
(Hordeum vulgare)
Liliopsida Hv.3657 34
wheat
(Triticum aestivum)
Liliopsida Ta.13252 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rip1 34
  • 58.1 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06606 34
  • 57.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10532 35
  • 49 (a)
OneToOne
Cin.5246 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5246 34
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)
Aminode:
Evolutionary constrained regions (ECRs) for UQCRFS1: view image

Paralogs for UQCRFS1 Gene

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

  • UCRI_HUMAN

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 Variation AA Info Type
rs1000205251 -- 29,212,557(-) C/G intron_variant
rs1000696135 -- 29,210,091(-) A/G intron_variant
rs1001225396 -- 29,212,741(-) G/A intron_variant
rs1001615950 -- 29,209,797(-) A/G intron_variant
rs1001732861 -- 29,214,972(-) A/G upstream_transcript_variant

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

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

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)

Additional Variant Information 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

(3) MalaCards diseases for UQCRFS1 Gene - From: ClinVar and DISEASES

Disorder Aliases PubMed IDs
lactic acidosis
  • acidosis lactic
propionic acidemia
  • propionyl-coa carboxylase deficiency
atrial standstill 1
  • atrst1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for UQCRFS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 23 45 58
  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 23 58
  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 23 58
  4. A Single Adaptable Cochaperone-Scaffold Complex Delivers Nascent Iron-Sulfur Clusters to Mammalian Respiratory Chain Complexes I-III. (PMID: 28380382) Maio N … Rouault TA (Cell metabolism 2017) 3 4 58
  5. TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. (PMID: 28673544) Bottani E … Zeviani M (Molecular cell 2017) 3 4 58

Products for UQCRFS1 Gene

Sources for UQCRFS1 Gene

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