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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UQCRFS1 Gene

protein-coding   GIFtS: 64
GCID: GC19M029698

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

Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 11 2     EC 1.10.2.23 8
Cytochrome B-C1 Complex Subunit 51 2 3     RIP12
Complex III Subunit 52 3     RIS12
Ubiquinol-Cytochrome C Reductase Iron-Sulfur Subunit2 3     UQCR52
RISP2 3     Cytochrome B-C1 Complex Subunit Rieske, Mitochondrial2
Rieske Iron-Sulfur Protein2 3     

External Ids:    HGNC: 125871   Entrez Gene: 73862   Ensembl: ENSG000001690217   OMIM: 1913275   UniProtKB: P479853   

Export aliases for UQCRFS1 gene to outside databases

Previous GC identifers: GC19M030318 GC19M030147 GC19M034374 GC19M034390


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 visceral leishmaniasis, and leishmaniasis, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include ubiquinol-cytochrome-c reductase activity and protein complex binding.

UniProtKB/Swiss-Prot: UCRI_HUMAN, P47985
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
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 (By similarity)

Gene Wiki entry for UQCRFS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UQCRFS1 gene promoter:
         FOXD3   IRF-1   CUTL1   GATA-2   RORalpha1   Pax-3   Nkx6-1   FOXJ2 (long isoform)   FOXJ2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUQCRFS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UQCRFS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UQCRFS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q12   Ensembl cytogenetic band:  19q12   HGNC cytogenetic band: 19q12

UQCRFS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UQCRFS1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M029698:  view genomic region     (about GC identifiers)

Start:
29,698,167 bp from pter      End:
29,704,448 bp from pter
Size:
6,282 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UCRI_HUMAN, P47985 (See protein sequence)
Recommended Name: Cytochrome b-c1 complex subunit Rieske, mitochondrial precursor  
Size: 274 amino acids; 29668 Da
Cofactor: Binds 1 2Fe-2S cluster per subunit (By similarity)
Subunit: 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)
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein
Miscellaneous: The Rieske protein is a high potential 2Fe-2S protein
Secondary accessions: A8K519 Q6NVX5 Q9UPH2

Explore the universe of human proteins at neXtProt for UQCRFS1: NX_P47985

Explore proteomics data for UQCRFS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P47985

  • 4/15 DME Specific Peptides for UQCRFS1 (P47985) (see all 15)
     RPLVASV  YEFTSDD  GPAPLNL  NLEVPTY 

    UQCRFS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UQCRFS1 Protein Expression
    REFSEQ proteins: NP_005994.2  
    ENSEMBL proteins: 
     ENSP00000306397  
    Reactome Protein details: P47985
    Human Recombinant Protein Products for UQCRFS1: 
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    Cloud-Clone Corp. Proteins for UQCRFS1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005750mitochondrial respiratory chain complex III NAS--
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane ----

    UQCRFS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comIII: Mitochondrial respiratory chain complex / Complex III

    5/7 InterPro protein domains (see all 7):
     IPR017941 Rieske_2Fe-2S
     IPR006317 Ubiquinol_cyt_c_Rdtase_Fe-S-su
     IPR015248 Ubiqinol_cyt_c_Rdtase_N
     IPR005805 Rieske_Fe-S_prot_C
     IPR014349 Rieske_Fe-S_prot

    Graphical View of Domain Structure for InterPro Entry P47985

    ProtoNet protein and cluster: P47985

    3 Blocks protein domains:
    IPB004192 Ubiquinol cytochrome reductase transmembrane region
    IPB005806 Rieske [2Fe-2S] domain
    IPB011070 Globular protein


    UniProtKB/Swiss-Prot: UCRI_HUMAN, P47985
    Similarity: Contains 1 Rieske domain


    UQCRFS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UCRI_HUMAN, P47985
    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
    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 (By similarity)
    Catalytic activity: QH(2) + 2 ferricytochrome c = Q + 2 ferrocytochrome c + 2 H(+)

         Genatlas biochemistry entry for UQCRFS1:
    Rieske iron sulfur protein 1,subunit of cytochrome bc1 complex III,mitochondrial respiratory chain,oxidative
    phosphorylation (OXPHOS)

         Enzyme Number (IUBMB): EC 1.10.2.21 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008121ubiquinol-cytochrome-c reductase activity NAS--
    GO:0016491oxidoreductase activity ----
    GO:0032403protein complex binding IEA--
    GO:0046872metal ion binding IEA--
         
    UQCRFS1 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Uqcrfs1):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  integument 
     mortality/aging  nervous system  pigmentation 

    UQCRFS1 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UQCRFS1 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UQCRFS1 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Cardiac muscle contraction
    Cardiac muscle contraction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UQCRFS1
        Electron Transport Chain

    4        Reactome Pathways for UQCRFS1
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/7         Kegg Pathways  (Kegg details for UQCRFS1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease


    UQCRFS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UQCRFS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/376 Interacting proteins for UQCRFS1 (P479852, 3 ENSP000003063974) via UniProtKB, MINT, STRING, and/or I2D (see all 376)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDH18A1P548862, 3MINT-8079030 I2D: score=1 
    GRPEL1Q9HAV72, 3MINT-8079030 I2D: score=1 
    SLC25A10Q9UBX32, 3MINT-8079030 I2D: score=1 
    YME1L1Q96TA22, 3MINT-8079030 I2D: score=1 
    UQCRC1P319302, 3, ENSP000002034074MINT-8079030 I2D: score=1 STRING: ENSP00000203407
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009725response to hormone stimulus IEA--
    GO:0022904respiratory electron transport chain TAS--
    GO:0042493response to drug IEA--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    UQCRFS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    UQCRFS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UQCRFS1 (UCRI)

    4 HMDB Compounds for UQCRFS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    QH2CoQH2 (see all 5)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    9 DrugBank Compounds for UQCRFS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    (5S)-3-ANILINO-5-(2,4-DIFLUOROPHENYL)-5-METHYL-1,3-OXAZOLIDINE-2,4-DIONE-- --target--10592235
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
    2-NONYL-4-HYDROXYQUINOLINE N-OXIDE-- --target--10592235
    5-HEPTYL-6-HYDROXY-1,3-BENZOTHIAZOLE-4,7-DIONE-- --target--10592235
    5-n-undecyl-6-hydroxy-4,7-dioxobenzothiazole3-undecyl-2-hydroxydioxobenzothiazol (see all 4)43152-58-5target--10592235
    FAMOXADONE-- --target--10592235
    METHYL (2Z)-2-(2-{[6-(2-CYANOPHENOXY)PYRIMIDIN-4-YL]OXY}PHENYL)-3-METHOXYACRYLATE-- --target--10592235
    METHYL (2Z)-3-METHOXY-2-{2-[(E)-2-PHENYLVINYL]PHENYL}ACRYLATE-- --target--10592235
    UBIQUINONE-2-- --target--10592235

    7 Novoseek inferred chemical compound relationships for UQCRFS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron-sulfur 94.2 62 1847390 (3), 11361137 (3), 10704220 (2), 17502946 (2) (see all 48)
    ubiquinol 88.2 10 11361137 (1), 2177322 (1), 10512801 (1), 19660431 (1) (see all 10)
    hydroquinone 65.1 5 10625447 (1), 10512801 (1), 15157909 (1), 12672829 (1)
    ubiquinone 64.3 1 16005845 (1)
    quinone 39.9 1 10416018 (1)
    hydrogen 29.6 3 15449929 (1), 17223530 (1), 16830148 (1)
    histidine 24.7 2 15449929 (1), 10416018 (1)

    Search CenterWatch for drugs/clinical trials and news about UQCRFS1 / UCRI

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for UQCRFS1 gene: 
    NM_006003.2  

    Unigene Cluster for UQCRFS1:

    Ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
    Hs.743307  [show with all ESTs]
    Unigene Representative Sequence: BM912157
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000304863(uc002nsd.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK000225.1 AK291134.1 BC000649.1 BC010035.2 BC067832.1 

    15 DOTS entries:

    DT.119246  DT.100843595  DT.100781941  DT.92010816  DT.100781943  DT.70104793  DT.100776735  DT.121488993 
    DT.120667188  DT.121489062  DT.100781934  DT.100781938  DT.121488988  DT.92019714  DT.92326713 

    24/427 AceView cDNA sequences (see all 427):

    AI937378 BM981343 CA450259 AW271537 BQ349032 AA917089 CD365046 N77880 
    BU620833 AJ346482 AI202816 AW661954 AI183576 AA253373 AI572829 AA622180 
    BM680526 BG756905 BE044407 AA709352 AA371448 AA128126 BI759875 CR594419 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UQCRFS1 expression in normal human tissues (normalized intensities)      UQCRFS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCACACTA
    UQCRFS1 Expression
    About this image


    UQCRFS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose

    See UQCRFS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UQCRFS1

    SOURCE GeneReport for Unigene cluster: Hs.743307
        SABiosciences Expression via Pathway-Focused PCR Arrays including UQCRFS1: 
              Mitochondrial Energy Metabolism in human mouse rat
              Cancer PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for UQCRFS1 gene from 10/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uqcrfs11 , 5 ubiquinol-cytochrome c reductase, Rieske iron-sulfur more1, 5 84.67(n)1
    88.69(a)1
      13 (13.23 cM)5
    666941  NM_025710.21  NP_079986.11 
     305403085 
    chicken
    (Gallus gallus)
    Aves UQCRFS11 ubiquinol-cytochrome c reductase, Rieske iron-sulfur more 73.9(n)
    75(a)
      415752  NM_001005843.1  NP_001005843.1 
    lizard
    (Anolis carolinensis)
    Reptilia UQCRFS16
    Ubiquinol-cytochrome c reductase iron-sulfur subun...
    75(a)
    1 ↔ 1
    GL343441.1(47252-55158)
    African clawed frog
    (Xenopus laevis)
    Amphibia uqcrfs1-prov2 ubiquinol-cytochrome c reductase, Rieske iron-sulfur more 79.49(n)    BC041528.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb05d112 Danio rerio cDNA clone MGC73109 IMAGE4786975, complete more 78.18(n)    BC059475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RFeSP1 , 3 Rieske iron-sulfur protein1 61(a)3
    62.22(n)1
    69.23(a)1
      22A33
    443901  NM_164426.21  NP_722715.11 
    worm
    (Caenorhabditis elegans)
    Secernentea isp-11 Protein ISP-1 51.4(n)
    50(a)
      177609  NM_068960.2  NP_501361.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RIP1(YEL024W)4
    RIP11
    Ubiquinol-cytochrome-c reductase, a Rieske iron-sulfur more4
    Rip1p1
    62.52(n)1
    58.58(a)1
      5(107260-107907)4
    8566891, 4  NP_010890.31  NP_010890.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G134401 Ubiquinol-cytochrome C reductase iron-sulfur subunit 56.43(n)
    52.41(a)
      831185  NM_121347.3  NP_196848.1 
    rice
    (Oryza sativa)
    Liliopsida Os.63272 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.24(n)    AK102815.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UQCRFS1 gene
    2 SIMAP similar genes for UQCRFS1 using alignment to 1 protein entry:     UCRI_HUMAN:
    UQCRFS1P1    LOC202789

    UQCRFS1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for UQCRFS1
    PGOHUM00000243071 PGOHUM00000233591


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/187 SNPs in UQCRFS1 are shown (see all 187)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1440046761,2
    --29697744(+) TCATTC/TTGGAA 1 -- ds50010--------
    rs1903772691,2
    --29697829(+) ACTAAC/TAAAAT 1 -- ds50010--------
    rs1822026211,2
    --29697869(+) CAGCAC/GACCAG 1 -- ds50010--------
    rs1506557361,2
    C--29697876(+) CCAGAC/TGTGAA 1 -- ds50010--------
    rs93046641,2
    C,F,A,H--29697907(+) AATGCA/CTCATT 1 -- ds5001108Minor allele frequency- C:0.47NS NA EA PA EU CA WA CSA 6426
    rs1400115151,2
    --29697959(+) GCTTAC/TACAGT 1 -- ds50010--------
    rs1872118511,2
    --29698063(+) TGACCC/TGTTAA 1 -- ds50010--------
    rs104035751,2
    C,F--29698222(+) AGACAT/CTGTAC 1 -- ut31 ese37Minor allele frequency- C:0.06NA WA 266
    rs1498431101,2
    C--29698232(+) CCTTTC/TGCGTG 1 -- ut310--------
    rs1889328881,2
    --29698252(+) GCATAA/CCAGTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for UQCRFS1 (29698167 - 29704448 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UQCRFS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2452CNV Insertion18451855
    dgv3837n71CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 191327    OMIM disorders: --

    13 diseases for UQCRFS1:    About MalaCards
    visceral leishmaniasis    leishmaniasis    myelodysplastic syndromes    huntington's disease
    acute myeloid leukemia    renal cell carcinoma    parkinson's disease    hypoxia
    myeloid leukemia    leukemia    alzheimer's disease    breast cancer
    prostatitis


    UQCRFS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): UQCRFS1
    Human Genome Epidemiology (HuGE) Navigator: UQCRFS1 (3 documents)

    Export disorders for UQCRFS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UQCRFS1 gene, integrated from 9 sources (see all 73):
    (articles sorted by number of sources associating them with UQCRFS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ubiquinol cytochrome c reductase (UQCRFS1) gene amplification in primary breast cancer core biopsy samples. (PubMed id 15047214)1, 4, 9 Ohashi Y....Young S.R. (2004)
    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. (PubMed id 8088805)1, 3, 9 Duncan A.M....Rozen R. (1994)
    3. The primary structure of human Rieske iron-sulfur protein of mitochondrial cytochrome bc1 complex deduced from cDNA analysis. (PubMed id 2158323)1, 2, 9 Nishikimi M.... Ozawa T. (1990)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (2008)
    7. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Renal cell carcinoma and normal kidney protein expression. (PubMed id 9150947)1, 2 Sarto C.... Mocarelli P. (1997)
    10. Structure, sequence and location of the UQCRFS1 gene for the human Rieske Fe-S protein. (PubMed id 7721092)1, 2 Pennacchio L....Lennon G. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7386 HGNC: 12587 AceView: UQCRFS1 Ensembl:ENSG00000169021 euGenes: HUgn7386
    ECgene: UQCRFS1 Kegg: 7386 H-InvDB: UQCRFS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UQCRFS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UQCRFS1 gene:
    Search GeneIP for patents involving UQCRFS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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