UQCRFS1 Gene (Protein Coding)

Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 1

GC19M029205
GIFtS:
47
See more...

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
  • RISP 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
  • UQCR5 2 3
  • RIP1 2 3
  • RIS1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 1.10.2.2 51
  • EC 7.1.1.8 4
  • MC3DN10 3
  • UQCRFS1 5

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 Mitochondrial Complex Iii Deficiency, Nuclear Type 10 and Lactic Acidosis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot Summary for UQCRFS1 Gene

  • [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 phosphorylation (PubMed:31883641). The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. The Rieske protein is a catalytic core subunit containing a [2Fe-2S] iron-sulfur cluster. It cycles between 2 conformational states during catalysis to transfer electrons from the quinol bound in the Q(0) site in cytochrome b to cytochrome c1 (By similarity). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544).
  • [Cytochrome b-c1 complex subunit 9]: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer. One of the fragments, called subunit 9, corresponds to its mitochondrial targeting sequence (MTS). 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.

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 , Rfam classification and piRNA Summary for UQCRFS1 Gene

Genomics for UQCRFS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 CraniofacialAtlas 256.7 +0.9 937 3.6 TBP ZBTB10 SIX5 MNT SMAD5 MBD2 POLR2A ZEB1 ELF1 ZIC2 UQCRFS1 UQCRFS1-DT piR-47427 piR-48209-352 ENSG00000266910 RPL9P32 POP4
GH19J029263 Enhancer 0.8 Ensembl ENCODE 11.2 -50.7 -50706 0.9 CTCF REST ZNF521 SMC3 RAD21 ZNF2 ZFP37 ZNF143 GLIS1 GATA2 UQCRFS1 piR-50437-349 ENSG00000287272 VSTM2B
GH19J029248 Enhancer 0.5 Ensembl 16.4 -34.7 -34650 2 ZIC2 CTCF EGR2 RAD21 ZNF24 USF1 PRDM2 ZFHX2 KDM1A UQCRFS1 piR-61101-336 piR-57461-109 VSTM2B
GH19J029575 Enhancer 0.7 Ensembl 9.5 -363.6 -363649 2.4 EBF1 BATF IKZF1 ATF2 GLIS1 ZNF398 ZNF768 CTCF SPI1 ZBTB12 UQCRFS1 ZNF536 lnc-VSTM2B-10 POP4 lnc-C19orf12-12 VSTM2B
GH19J029270 Enhancer 0.3 Ensembl 15.6 -57.2 -57150 0.6 ZNF740 ENSG00000287272 HSALNG0125193 HSALNG0125194 UQCRFS1 UQCRFS1-DT VSTM2B
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UQCRFS1

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

Latest Assembly
chr19:29,205,320-29,213,151
(GRCh38/hg38)
Size:
7,832 bases
Orientation:
Minus strand

Previous Assembly
chr19:29,696,227-29,704,058
(GRCh37/hg19 by Entrez Gene)
Size:
7,832 bases
Orientation:
Minus strand

chr19:29,698,173-29,704,448
(GRCh37/hg19 by Ensembl)
Size:
6,276 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 Structure • Gene Density

RefSeq DNA sequence for UQCRFS1 Gene

Proteins for UQCRFS1 Gene

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  • 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:
    • [Cytochrome b-c1 complex subunit Rieske, mitochondrial]: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1 (By similarity). The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695). 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).
    • [Cytochrome b-c1 complex subunit 9]: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII). Subunit 9 corresponds to the mitochondrial targeting sequence (MTS) of Rieske protein UQCRFS1. It is retained after processing and incorporated inside complex III, where it remains bound to the complex and localizes between the 2 core subunits UQCRC1/QCR1 and UQCRC2/QCR2.
    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

Protein Expression for UQCRFS1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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. Several fragments are generated during UQCRFS1 insertion, most probably due to the endogenous matrix-processing peptidase (MPP) activity of the 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, which are homologous to the 2 mitochondrial-processing peptidase (MPP) subunits beta-MPP and alpha-MPP respectively. The action of the protease is also necessary for the clearance of the UQCRFS1 fragments.
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UQCRFS1 Gene

InterPro:
Blocks:
  • Globular protein, non-globular alpha/beta subunit
  • Rieske [2Fe-2S] domain
  • Ubiquinol cytochrome reductase transmembrane region
ProtoNet:

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

P47985

UniProtKB/Swiss-Prot:

UCRI_HUMAN :
  • Belongs to the Rieske iron-sulfur protein family.
Family:
  • Belongs to the Rieske iron-sulfur protein family.
genes like me logo Genes that share domains with UQCRFS1: view

Function for UQCRFS1 Gene

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  6. Cell Lines for research

Molecular function for UQCRFS1 Gene

UniProtKB/Swiss-Prot 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 phosphorylation (PubMed:31883641). The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. The Rieske protein is a catalytic core subunit containing a [2Fe-2S] iron-sulfur cluster. It cycles between 2 conformational states during catalysis to transfer electrons from the quinol bound in the Q(0) site in cytochrome b to cytochrome c1 (By similarity). Incorporation of UQCRFS1 is the penultimate step in complex III assembly (PubMed:28673544).
UniProtKB/Swiss-Prot Function:
[Cytochrome b-c1 complex subunit 9]: Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII). UQCRFS1 undergoes proteolytic processing once it is incorporated in the complex III dimer. One of the fragments, called subunit 9, corresponds to its mitochondrial targeting sequence (MTS). 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.
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; Evidence={ECO:0000250|UniProtKB:P08067};.
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 IBA 21873635
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with UQCRFS1: view
genes like me logo Genes that share phenotypes with UQCRFS1: view

Human Phenotype Ontology for UQCRFS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for UQCRFS1

miRNA for UQCRFS1 Gene

miRTarBase miRNAs that target UQCRFS1

Inhibitory RNAs for research

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

No data available for 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 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UQCRFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 31883641
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:0022904 respiratory electron transport chain IMP 31883641
GO:0034551 mitochondrial respiratory chain complex III assembly IMP 31883641
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

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  1. Drug products for research

(16) 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
(S)-famoxadone Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-Nonyl-4-quinolinol 1-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(+)
  • Hydron
  • Hydrogen cation
  • 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

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mRNA/cDNA for UQCRFS1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for UQCRFS1 Gene

GeneLoc Exon Structure for
UQCRFS1

Expression for UQCRFS1 Gene

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

mRNA expression in normal human tissues for UQCRFS1 Gene
mRNA expression by GTEx for UQCRFS1 GenemRNA expression by BioGPS 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Lung(4.4)
  • Heart(3.5)
  • Muscle(3.4)
  • Skin(3)
  • Liver(3)
  • Intestine(2.7)
  • Thyroid gland(2.5)
  • Lymph node(2.5)
  • Blood(2.5)
  • Stomach(2.5)
  • Pancreas(2.5)
  • Adrenal gland(2.4)
  • Spleen(2.4)
  • Bone marrow(2.1)
  • Gall bladder(2.1)
genes like me logo Genes that share expression patterns with UQCRFS1: view

Primer products for research

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 -- 31
  • 99 (a)
 OneToMany
UQCRFS1 30
  • 98.3 (n)
-- 31
  • 97 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia UQCRFS1 31
  • 91 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia UQCRFS1 30 31
  • 87.23 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Uqcrfs1 30
  • 85.89 (n)
Oppossum
(Monodelphis domestica)
 Mammalia UQCRFS1 31
  • 85 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia UQCRFS1 30 31
  • 84.88 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Uqcrfs1 30 17 31
  • 84.67 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves UQCRFS1 30 31
  • 73.9 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia UQCRFS1 31
  • 76 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia uqcrfs1 30
  • 69.23 (n)
MGC76317 30
African clawed frog
(Xenopus laevis)
 Amphibia uqcrfs1-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii uqcrfs1 30 31 31
  • 65.93 (n)
 OneToMany
wufb05d11 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.9102 30
Fruit Fly
(Drosophila melanogaster)
 Insecta RFeSP 30 31 32
  • 62.22 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008955 30
  • 58.3 (n)
Worm
(Caenorhabditis elegans)
 Secernentea isp-1 30 31
  • 51.5 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AEL067W 30
  • 59.36 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RIP1 30 31 33
  • 59.06 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E22573g 30
  • 58.77 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G13440 30
  • 56.43 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.689 30
Rice
(Oryza sativa)
 Liliopsida Os04g0398500 30
  • 53.41 (n)
Os.6327 30
Barley
(Hordeum vulgare)
 Liliopsida Hv.3657 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.13252 30
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rip1 30
  • 58.1 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06606 30
  • 57.64 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10532 31
  • 49 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.5246 30
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

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UQCRFS1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1242465339 Pathogenic: Cardiomyopathy; Lactic acidosis; Propionic acidemia; Mitochondrial complex 3 deficiency, nuclear type 10 29,207,763(-) G/A
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) 		NONSENSE
rs1568344751 Pathogenic: Cardiomyopathy; Lactic acidosis; Propionic acidemia; Mitochondrial complex 3 deficiency, nuclear type 10 29,208,159(-) C/G
NM_006003.3(UQCRFS1):c.215-1G>C 		SPLICE_ACCEPTOR
rs1568346416 Pathogenic: Cardiomyopathy; Lactic acidosis; Propionic acidemia; Mitochondrial complex 3 deficiency, nuclear type 10 29,213,078(-) A/T
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) 		MISSENSE
rs4805344 Benign: not provided 29,207,902(-) G/A
NM_006003.3(UQCRFS1):c.471C>T (p.Ser157=) 		SYNONYMOUS
VAR_083879 Mitochondrial complex III deficiency, nuclear 10 (MC3DN10) [MIM:618775] p.Val14Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UQCRFS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for UQCRFS1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for UQCRFS1 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 10
  • mc3dn10
lactic acidosis
  • acidosis lactic
propionic acidemia
  • propionyl-coa carboxylase deficiency
isolated complex iii deficiency
  • isolated coq-cytochrome c reductase deficiency
atrial standstill 1
  • atrst1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

UCRI_HUMAN
  • Mitochondrial complex III deficiency, nuclear 10 (MC3DN10) [MIM:618775]: A form of mitochondrial complex III deficiency, a disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. MC3DN10 is an autosomal recessive form characterized by fetal bradycardia, poor feeding, hypotonia, hypertrophic cardiomyopathy, alopecia totalis, low mitochondrial complex III activity and lactic acidosis. {ECO:0000269 PubMed:31883641}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for UQCRFS1

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

No data available for Genatlas for UQCRFS1 Gene

Publications for UQCRFS1 Gene

  1. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. (PMID: 31883641) Gusic M … Schuelke M (American journal of human genetics 2020) 3 4 74
  2. 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 41
  3. 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
  4. 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
  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

ExternalLinks

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