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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
External Ids for UQCRFS1 Gene
- HGNC: 12587
- Entrez Gene: 7386
- Ensembl: ENSG00000169021
- OMIM: 191327
- UniProtKB: P47985
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 Summary 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).
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 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 CraniofacialAtlas | 506.7 | +1.0 | 1015 | 3.6 | EP300 NRF1 ZNF300 USF1 POLR2G RBAK GTF2E2 PHF8 TEAD4 SIX5 | UQCRFS1 LOC105372352 piR-47427 piR-48209-352 ENSG00000266910 POP4 | |
| GH19J029263 | Enhancer | 0.9 | Ensembl ENCODE | 11.2 | -50.4 | -50432 | 1.3 | CTCF REST RAD21 SMC3 HDAC2 SALL2 POLR2A GATA3 IKZF3 ZNF654 | piR-50437-349 ENSG00000266910 UQCRFS1 ENSG00000287272 | |
| GH19J029248 | Enhancer | 0.6 | Ensembl | 11.6 | -35.0 | -34971 | 0.4 | USF1 ZIC2 MXI1 POLR2A ZFHX2 RAD21 MAX EGR2 PRDM2 USF2 | piR-61101-336 UQCRFS1 piR-57461-109 | |
| GH19J029575 | Enhancer | 0.7 | Ensembl | 9.5 | -363.6 | -363571 | 2.4 | RELA ZBTB17 CTCF MEF2B ZFHX2 BATF POU2F2 IKZF1 EBF1 KLF17 | UQCRFS1 ZNF536 lnc-VSTM2B-10 lnc-C19orf12-12 | |
| GH19J029268 | Enhancer | 0.3 | Ensembl | 11.4 | -56.2 | -56171 | 0.8 | ZNF740 | ENSG00000287272 UQCRFS1 LOC105372352 lnc-VSTM2B-1 |
- 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
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
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:
-
- 19q12 by HGNC
- 19q12 by Entrez Gene
- 19q12 by Ensembl
UQCRFS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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:
Antibody Products
- G Biosciences Immunotag™ UQCRFS1 Antibody
- Creative Diagnostics Anti-UQCRFS1 monoclonal antibody
- GeneTex Anti-UQCRFS1 antibody [N1C3] and Anti-UQCRFS1 antibody
- Novus Biologicals Antibodies for UQCRFS1
- Invitrogen Antibodies for UQCRFS1 (AFLGC-UQCRFS1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for UQCRFS1
Protein Products
-
OriGene Purified Proteins for UQCRFS1
- Search Origene for MassSpec and Protein Over-expression Lysates for UQCRFS1
- Origene Custom Protein Services for UQCRFS1
- Novus Biologicals proteins for UQCRFS1
-
Signalway Proteins for UQCRFS1
-
Abcam proteins for UQCRFS1
Domains & Families for UQCRFS1 Gene
Gene Families for UQCRFS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for UQCRFS1 Gene
- Blocks:
-
- Rieske [2Fe-2S] domain
- Globular protein, non-globular alpha/beta subunit
- Ubiquinol cytochrome reductase transmembrane region
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for UQCRFS1 Gene
- GenScript: Design optimal peptide antigens:
-
- Ubiquinol-cytochrome c reductase iron-sulfur subunit (UCRI_HUMAN)
No data available for Graphical View of Domain Structure and 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
| 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 | -- |
Phenotypes for UQCRFS1 Gene
- MGI mutant phenotypes for UQCRFS1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for UQCRFS1:
Animal Model Products
-
Taconic Biosciences Mouse Models for UQCRFS1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UQCRFS1 - Select products 50% OFF >
- * UQCRFS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UQCRFS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UQCRFS1
- genomics-online: gRNA clones - Search results for available UQCRFS1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for UQCRFS1
miRNA for UQCRFS1 Gene
- miRTarBase miRNAs that target UQCRFS1
-
- hsa-mir-155-5p (MIRT006517)
- hsa-mir-615-3p (MIRT039761)
- hsa-mir-106b-5p (MIRT044309)
- hsa-mir-17-5p (MIRT050913)
- hsa-mir-450b-5p (MIRT500584)
- hsa-mir-527 (MIRT500585)
- hsa-mir-518a-5p (MIRT500586)
- hsa-mir-548aw (MIRT500587)
- hsa-mir-205-3p (MIRT500588)
- hsa-mir-33a-3p (MIRT500589)
- hsa-mir-409-3p (MIRT500590)
- hsa-mir-10a-3p (MIRT500591)
- hsa-mir-23a-3p (MIRT500592)
- hsa-mir-23b-3p (MIRT500593)
- hsa-mir-130a-5p (MIRT500594)
- hsa-mir-23c (MIRT500595)
- hsa-mir-421 (MIRT565069)
- hsa-mir-505-3p (MIRT565070)
- hsa-mir-7159-5p (MIRT565071)
- hsa-mir-182-5p (MIRT735463)
- hsa-mir-1250-3p (MIRT783210)
- hsa-mir-153-5p (MIRT783916)
- hsa-mir-335-3p (MIRT784879)
- hsa-mir-4760-3p (MIRT786638)
- hsa-mir-5696 (MIRT787809)
- hsa-mir-579-3p (MIRT787919)
- hsa-mir-6081 (MIRT788001)
- hsa-mir-664a-3p (MIRT788424)
- hsa-mir-664b-3p (MIRT788440)
- hsa-mir-6874-5p (MIRT789253)
- hsa-mir-1184 (MIRT790031)
- hsa-mir-1285-3p (MIRT790085)
- hsa-mir-141-3p (MIRT790114)
- hsa-mir-196a-3p (MIRT790151)
- hsa-mir-200a-3p (MIRT790156)
- hsa-mir-25-3p (MIRT790199)
- hsa-mir-3187-5p (MIRT790260)
- hsa-mir-32-5p (MIRT790276)
- hsa-mir-363-3p (MIRT790319)
- hsa-mir-3672 (MIRT790332)
- hsa-mir-367-3p (MIRT790333)
- hsa-mir-4325 (MIRT790430)
- hsa-mir-4329 (MIRT790434)
- hsa-mir-4418 (MIRT790438)
- hsa-mir-509-3-5p (MIRT790692)
- hsa-mir-509-5p (MIRT790694)
- hsa-mir-5189-5p (MIRT790709)
- hsa-mir-612 (MIRT790826)
- hsa-mir-661 (MIRT790875)
- hsa-mir-6860 (MIRT791050)
- hsa-mir-6864-3p (MIRT791055)
- hsa-mir-7156-3p (MIRT791110)
- hsa-mir-7703 (MIRT791127)
- hsa-mir-873-3p (MIRT791143)
- hsa-mir-92a-3p (MIRT791161)
- hsa-mir-92b-3p (MIRT791162)
- hsa-mir-939-3p (MIRT791167)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UQCRFS1
- Browse OriGene Inhibitory RNA Products For UQCRFS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRFS1
- genomics-online: shRNA clones - Search results for available UQCRFS1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for UQCRFS1 - Select products 50% OFF >
- * UQCRFS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UQCRFS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UQCRFS1
- genomics-online: cdna clones - Search results for available UQCRFS1 gene related products
- orf clones - Search results for available UQCRFS1 gene related 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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Mitochondria (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA,IBA | -- |
| 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:0005886 | plasma membrane | IBA | 21873635 |
Pathways & Interactions for UQCRFS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Metabolism |
.40
|
|
| 3 | Cardiac muscle contraction | ||
Pathways by source for UQCRFS1 Gene
1 BioSystems pathway for UQCRFS1 Gene
8 KEGG pathways for UQCRFS1 Gene
1 GeneTex pathway for UQCRFS1 Gene
Interacting Proteins for UQCRFS1 Gene
Selected Interacting proteins:
P47985-UCRI_HUMAN
ENSP00000306397
for UQCRFS1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for UQCRFS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006122 | mitochondrial electron transport, ubiquinol to cytochrome c | TAS | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for UQCRFS1 Gene
Drugs & Compounds for UQCRFS1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Iron | Approved, Experimental | Pharma | 1496 | |||
| 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-quinolinol 1-oxide | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Hydrogen Ion |
|
|
||||
| QH2 |
|
56275-39-9 |
|
Transcripts for UQCRFS1 Gene
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 :
-
- ENST00000304863 3086 bps (ENST00000304863.6)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for UQCRFS1 - Select products 50% OFF >
- * UQCRFS1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for UQCRFS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UQCRFS1
- genomics-online: gRNA clones - Search results for available UQCRFS1 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for UQCRFS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UQCRFS1
- Browse OriGene Inhibitory RNA Products For UQCRFS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRFS1
- genomics-online: shRNA clones - Search results for available UQCRFS1 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for UQCRFS1 - Select products 50% OFF >
- * UQCRFS1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for UQCRFS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UQCRFS1
- genomics-online: cdna clones - Search results for available UQCRFS1 gene related products
- orf clones - Search results for available UQCRFS1 gene related products
Relevant External Links for UQCRFS1 Gene
- GeneLoc Exon Structure for
- UQCRFS1
Expression 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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UQCRFS1
SOURCE GeneReport for Unigene cluster for UQCRFS1 Gene:
Hs.743307Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for UQCRFS1
-
OriGene qPCR primer pairs and template standards for UQCRFS1
- genomics-online: primer clones - Search results for available UQCRFS1 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
OneToMany | |
| UQCRFS1 30 |
|
||||
| -- 31 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | UQCRFS1 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | UQCRFS1 31 30 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Uqcrfs1 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | UQCRFS1 31 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | UQCRFS1 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Uqcrfs1 17 31 30 |
|
||
| chicken (Gallus gallus) |
Aves | UQCRFS1 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | UQCRFS1 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | uqcrfs1 30 |
|
||
| MGC76317 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | uqcrfs1-prov 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | uqcrfs1 31 31 30 |
|
OneToMany | |
| wufb05d11 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9102 30 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | RFeSP 31 32 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008955 30 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | isp-1 31 30 |
|
OneToOne | |
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AEL067W 30 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RIP1 33 31 30 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E22573g 30 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G13440 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.689 30 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os04g0398500 30 |
|
||
| Os.6327 30 |
|
||||
| wheat (Triticum aestivum) |
Liliopsida | Ta.13252 30 |
|
||
| barley (Hordeum vulgare) |
Liliopsida | Hv.3657 30 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rip1 30 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU06606 30 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10532 31 |
|
OneToOne | |
| Cin.5246 30 |
|
||||
| sea squirt (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
No data available for Paralogs for UQCRFS1 Gene
Variants for UQCRFS1 Gene
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 |
|---|---|---|---|---|---|
| 789459 | Benign: not provided | 29,207,902(-) | G/A | SYNONYMOUS_VARIANT | |
| rs1242465339 | Pathogenic: Cardiomyopathy; Lactic acidosis; Propionicacidemia | 29,207,763(-) | G/A | NONSENSE | |
| rs1568344751 | Pathogenic: Cardiomyopathy; Lactic acidosis; Propionicacidemia | 29,208,159(-) | C/G | SPLICE_ACCEPTOR_VARIANT | |
| rs1568346416 | Pathogenic: Cardiomyopathy; Lactic acidosis; Propionicacidemia | 29,213,078(-) | A/T | MISSENSE_VARIANT | |
| rs8100724 | - | p.Ser6Ala |
| 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 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UQCRFS1 Gene
Disorders for UQCRFS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lactic acidosis |
|
|
| propionic acidemia |
|
|
| rare cardiomyopathy |
|
|
| atrial standstill 1 |
|
|
| 3-methylglutaconic aciduria, type iii |
|
|
Search UQCRFS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for UQCRFS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for UQCRFS1 Gene
Publications for UQCRFS1 Gene
- 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 54
- 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 54
- 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 54
- 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 54
- 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 54
ExternalLinks
Products for UQCRFS1 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for UQCRFS1
- Search Origene for MassSpec and Protein Over-expression Lysates for UQCRFS1
- Origene Custom Protein Services for UQCRFS1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UQCRFS1
- Browse OriGene Inhibitory RNA Products For UQCRFS1
- OriGene qPCR primer pairs for UQCRFS1
- OriGene qPCR primer pairs and template standards for UQCRFS1
- OriGene CRISPR knockouts for UQCRFS1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For UQCRFS1
- Sino Biological Human cDNA Clone for UQCRFS1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for UQCRFS1
- Novus Biologicals proteins for UQCRFS1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
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- Abcam proteins for UQCRFS1
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- Taconic Biosciences Mouse Models for UQCRFS1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for UQCRFS1 (AFLGC-UQCRFS1)
- VectorBuilder Custom and pre-made DNA vectors for UQCRFS1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for UQCRFS1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for UQCRFS1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for UQCRFS1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for UQCRFS1
- antibodies-online: Show 22 available UQCRFS1 Antibodies ranked by validation data
- Compare Top UQCRFS1 Antibodies
- antibodies-online: Search results for available UQCRFS1 related products ranked by validation data
- antibodies-online: Show 4 available UQCRFS1 Proteins ranked by validation data
- Compare Top UQCRFS1 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for UQCRFS1
- Search Santa Cruz Biotechnology (SCBT) for UQCRFS1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for UQCRFS1
- genomics-online: cdna clones - Search results for available UQCRFS1 gene related products
- orf clones - Search results for available UQCRFS1 gene related products
- genomics-online: gRNA clones - Search results for available UQCRFS1 gene related products
- genomics-online: primer clones - Search results for available UQCRFS1 gene related products
- genomics-online: shRNA clones - Search results for available UQCRFS1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UQCRFS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UQCRFS1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for UQCRFS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UQCRFS1
- Search for UQCRFS1 ELISA kits at Signalway
- Signalway Proteins for UQCRFS1
Sources for UQCRFS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) H-invDB
- (47) HORDE
- (48) HUGE
- (49) IMGT
- (50) Leiden
- (51) miRBase
- (52) DME
- (53) OriGene
- (54) PubMed
- (55) R&D Systems
- (56) TGDB
- (57) Tocris
- (58) Abcam
- (59) Novus Biologicals
- (60) ProSpec
- (61) Sino Biological
- (62) GenScript
- (63) Qiagen
- (64) OCA
- (65) Proteopedia
- (66) MOPED
- (67) neXtProt
- (68) Reactome
- (69) GeneGo (Thomson Reuters)
- (70) DISEASES
- (71) SIMAP
- (72) GenomeRNAi
- (73) LifeMap
- (74) miRTarBase
- (75) MalaCards
- (76) Invitrogen
- (77) BitterDB
- (78) ESI-BIO
- (79) RefSeq
- (80) BioSystems
- (81) MaxQB
- (82) IUPHAR
- (83) BioGPS
- (84) Illumina
- (85) COMPARTMENTS
- (86) HOMER
- (87) PaxDb
- (88) ApexBio
- (89) Addgene
- (90) antibodies-online
- (91) CYP
- (92) NONCODE
- (93) TreeFam
- (94) PathCards
- (95) GeneReviews
- (96) GeneTex
- (97) Taconic Biosciences
- (98) GTEx
- (99) ProteomicsDB
- (100) SCBT
- (101) DGIdb
- (102) ClinicalTrials
- (103) RVIS
- (104) SIGNOR
- (105) diseasecard
- (106) NIH Rare Diseases
- (107) Orphanet
- (108) UMLS
- (109) GTR
- (110) Disease Ontology
- (111) Genetics Home Reference
- (112) MeSH
- (113) MedlinePlus
- (114) CDC
- (115) NINDS
- (116) NCBI Bookshelf
- (117) ClinVar
- (118) Gene Damage Index
- (119) HPO
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- (123) ENCODE
- (124) ProSci
- (125) Horizon
- (126) The Signaling Pathways Project (SPP)
- (127) IID
- (128) VectorBuilder
- (129) SNPedia
- (130) BRCA Exchange
- (131) CIViC
- (132) ProteoGenix
- (133) dbSUPER
- (134) TISSUES
- (135) Gene ORGANizer
- (136) abm
- (137) Human Protein Atlas
- (138) GWAS Catalog
- (139) Monarch Initiative
- (140) DataMed
- (141) HumanCyc
- (142) genomics-online
- (143) UCNEbase
- (144) EPDnew
- (145) Applied Biosystems
- (146) GlyConnect
- (147) Aminode
- (148) GeneCopoeia
- (149) GPS-Prot
- (150) RNACentral
- (151) LncRNADisease
- (152) LOVD
- (153) miR2Disease
- (154) DiseaseEnhancer
- (155) Boster Bio
- (156) Biorbyt
- (157) Biocompare
- (158) Mastermind
- (159) CTD^2 Dashboard
- (160) CraniofacialAtlas
- (161) GeneImprint
- (162) Synthego
- (163) Bio Basic
- (164) ENA
- (165) GtRNAdb
- (166) LncBase
- (167) LncBook
- (168) LNCipedia
- (169) LncRNAdb
- (170) Modomics
- (171) PDBe
- (172) Rfam
- (173) SILVA
- (174) snOPY
- (175) SRPDB
- (176) GENCODE
- (177) TarBase
- (178) MyBioSource
- (179) Signalway Antibody