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

UQCRFS1 Gene

protein-coding   GIFtS: 62
GCID: GC19M029698

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide...
 Explore 15 diseases affiliated with
UQCRFS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UQCRFS1    

Aliases
for UQCRFS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ubiquinol-Cytochrome C Reductase, Rieske Iron-Sulfur Polypeptide 11 2     Cytochrome B-C1 Complex Subunit 52 3
RISP1 2 3     Ubiquinol-Cytochrome C Reductase Iron-Sulfur Subunit2 3
RIP11 2     Rieske Iron-Sulfur Protein2 3
RIS11 2     EC 1.10.2.23 8
UQCR51 2     Cytochrome B-C1 Complex Subunit Rieske, Mitochondrial2
Complex III Subunit 52 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


Summaries
for UQCRFS1 gene

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  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 plasmid: UQCRFS1 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

Proteins
for UQCRFS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005994.2  
    ENSEMBL proteins: 
     ENSP00000306397  
    Reactome Protein details: P47985
    Human Recombinant Protein Products: 
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    Uscn 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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    Uscn ELISAs and CLIAs for UQCRFS1

    Protein Domains /
    Families
    for UQCRFS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    UQCRFS1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 families:
    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


    Function
    for UQCRFS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0008121ubiquinol-cytochrome-c reductase activity NAS--
    GO:0032403protein complex binding IEA--
    GO:0046872metal ion binding IEA--
    GO:00515372 iron, 2 sulfur cluster binding IEA--


    UQCRFS1 for ontologies           About GeneDecksing


    Animal Models:
         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


    Pathways & Interactions
    for UQCRFS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    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.1.00
    		Oxidative phosphorylation0.63
    		Respiratory electron transport0.81
    		Parkinson's disease0.61
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Cardiac muscle contraction
    		Cardiac muscle contraction1.00

    Pathway sources
    See GeneCards unified pathways
    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


    5/6         Kegg Pathways  (Kegg details for UQCRFS1) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Alzheimer's disease
    Parkinson'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)

    5/362 Interacting proteins for UQCRFS1 (P479852, 3 ENSP000003063974) via UniProtKB, MINT, STRING, and/or I2D (see all 362)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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:0044281small molecule metabolic process TAS--
    GO:0046677response to antibiotic IEA--


    UQCRFS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for UQCRFS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for UQCRFS1

    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 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 

    Transcripts
    for UQCRFS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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)

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    Inhib. RNA
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    Additional cDNA 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):

    BU740945 AL522398 BQ003628 BU620833 AA448184 BE394775 AI183576 CK299293 
    AA622180 BG756905 BI759875 AI521758 BE044407 AA128126 CB110555 CF552983 
    AW875817 CA450259 AA253373 CR601299 AI741407 BM712765 BQ225599 CR592326 

    GeneLoc Exon Structure


    Expression
    for UQCRFS1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGTCACACTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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: 
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              Cancer PathwayFinder in human mouse rat

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    In Situ
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    Orthologs
    for UQCRFS1 gene

    (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 10/42 species (see all 42)    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
    		 --
    		 76(a)
    		 1 ↔ 1
    		 GL343441.1(48541-54972)
    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
    for UQCRFS1 gene

    (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


    Genomic Variants
    for UQCRFS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/162 NCBI SNPs in UQCRFS1 are shown (see all 162)     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
    		--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 (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UQCRFS1: --

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    Disorders / Diseases
    for UQCRFS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    UQCRFS1 for disorders           About GeneDecksing

    OMIM gene information: 191327    OMIM disorders: --

    15 diseases for UQCRFS1:    About MalaCards
    visceral leishmaniasis    acute myeloid leukemia    myeloid leukemia    leishmaniasis
    renal cell carcinoma    myelodysplastic syndrome    huntington's disease    parkinson's disease
    ovarian carcinoma    leukemia    breast cancer    carcinoma
    hypoxia    malaria    prostatitis

    1 disease from the University of Copenhagen DISEASES database for UQCRFS1:
    Schizophrenia
    Genetic Association Database (GAD): UQCRFS1
    Human Genome Epidemiology (HuGE) Navigator: UQCRFS1 (3 documents)

    Export disorders for UQCRFS1 gene to outside databases

    Publications
    for UQCRFS1 gene

    (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 72):
    (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. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    5. 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)
    6. Renal cell carcinoma and normal kidney protein expression. (PubMed id 9150947)1, 2 Sarto C.... Mocarelli P. (1997)
    7. 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)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for UQCRFS1 gene

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

    Genome Databases showing UQCRFS1 gene

    (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

    Other Databases showing UQCRFS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UQCRFS1 gene

    (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

    Intellectual Property
    for UQCRFS1 gene

    (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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