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UQCRQ Gene

protein-coding   GIFtS: 62
GCID: GC05P132204

Ubiquinol-Cytochrome C Reductase, Complex III Subunit VII,...

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquinol-Cytochrome C Reductase, Complex III Subunit VII, 9.5kDa1 2     Complex III Subunit VII1
Complex III Subunit 81 2 3     Ubiquinol-Cytochrome C Reductase1
Complex III Subunit VIII2 3     QCR82
Ubiquinol-Cytochrome C Reductase Complex 9.5 KDa Protein2 3     QP-C2
Ubiquinol-Cytochrome C Reductase Complex Ubiquinone-Binding Protein QP-C2 3     UQCR72
MC3DN42 5     Cytochrome B-C1 Complex Subunit 82
QPC2 5     Low Molecular Mass Ubiquinone-Binding Protein (9.5kD)2

External Ids:    HGNC: 295941   Entrez Gene: 270892   Ensembl: ENSG000001644057   OMIM: 6120805   UniProtKB: O149493   

Export aliases for UQCRQ gene to outside databases

Previous GC identifers: GC05P132231 GC05P127395


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UQCRQ Gene:
This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated
protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial
respiratory chain. (provided by RefSeq, Jul 2008)

GeneCards Summary for UQCRQ Gene:
UQCRQ (ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa) is a protein-coding gene. Diseases associated with UQCRQ include mitochondrial respiratory chain complex iii deficiency, uqcrq related, and mitochondrial complex iii deficiency, nuclear type 4. GO annotations related to this gene include ubiquinol-cytochrome-c reductase activity.

UniProtKB/Swiss-Prot: QCR8_HUMAN, O14949
Function: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1
complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds
to ubiquinone




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the UQCRQ gene promoter:
         E2F-4   E2F-3a   E2F-5   AML1a   E2F-2   YY1   RORalpha1   E2F   E2F-1   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UQCRQ promoter sequence
   Search Chromatin IP Primers for UQCRQ

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UQCRQ


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P132204:  view genomic region     (about GC identifiers)

Start:
132,202,252 bp from pter      End:
132,204,536 bp from pter
Size:
2,285 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: QCR8_HUMAN, O14949 (See protein sequence)
Recommended Name: Cytochrome b-c1 complex subunit 8  
Size: 82 amino acids; 9906 Da
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)
Secondary accessions: Q5FVE2 Q9BV88 Q9T2V7

Explore the universe of human proteins at neXtProt for UQCRQ: NX_O14949

Explore proteomics data for UQCRQ at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See UQCRQ Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055217.2  
    ENSEMBL proteins: 
     ENSP00000367939   ENSP00000367936   ENSP00000367934  
    Reactome Protein details: O14949

    UQCRQ Human Recombinant Protein Products:

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    UQCRQ Assay Products:

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    Cloud-Clone Corp. CLIAs for UQCRQ


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

    1 InterPro protein domain:
     IPR004205 Cyt_bc1_su8

    Graphical View of Domain Structure for InterPro Entry O14949

    ProtoNet protein and cluster: O14949

    1 Blocks protein domain: IPB004205 UcrQ

    UniProtKB/Swiss-Prot: QCR8_HUMAN, O14949
    Similarity: Belongs to the UQCRQ/QCR8 family


    UQCRQ 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: QCR8_HUMAN, O14949
    Function: This is a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1
    complex), which is part of the mitochondrial respiratory chain. This subunit, together with cytochrome b, binds
    to ubiquinone

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008121ubiquinol-cytochrome-c reductase activity IEA--
         
    UQCRQ for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for UQCRQ:
     Decreased Hepatitis C virus re  Decreased TP53 protein express 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UQCRQ
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UQCRQ

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UQCRQ
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UQCRQ

    miRNA
    Products:
        
    miRTarBase miRNAs that target UQCRQ:
    hsa-mir-106b-5p (MIRT044341), hsa-mir-484 (MIRT041651), hsa-mir-148a-3p (MIRT025979), hsa-mir-130b-3p (MIRT020113)

    Block miRNA regulation of human, mouse, rat UQCRQ using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate UQCRQ:
    hsa-miR-3674 hsa-miR-599 hsa-miR-3919 hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidUQCRQ 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UQCRQ

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    GenScript: all cDNA clones in your preferred vector: UQCRQ (NM_014402)
    Sino Biological Human cDNA Clone for UQCRQ
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UQCRQ
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UQCRQ

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRQ


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    QCR8_HUMAN, O14949: Mitochondrion inner membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0070469respiratory chain IEA--

    UQCRQ for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for UQCRQ About    
    See pathways by source

    SuperPathContained pathways About
    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
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44
    4Cardiac muscle contraction
    Cardiac muscle contraction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for UQCRQ
        Electron Transport Chain


    1 Reactome Pathway for UQCRQ
        Respiratory electron transport


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


    UQCRQ for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including UQCRQ: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UQCRQ

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

    Selected Interacting proteins for UQCRQ (O149492, 3 ENSP000003679344) via UniProtKB, MINT, STRING, and/or I2D (see all 101)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYZAPP0CAP12, 3MINT-65203 I2D: score=4 
    ERCC8Q132162, 3, ENSP000002650384MINT-64126 I2D: score=4 STRING: ENSP00000265038
    CYC1P085743, ENSP000003171594I2D: score=2 STRING: ENSP00000317159
    MAPK3P273613, ENSP000002630254I2D: score=1 STRING: ENSP00000263025
    UQCRC1P319303, ENSP000002034074I2D: score=1 STRING: ENSP00000203407
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0021539subthalamus development IEA--
    GO:0021548pons development IEA--
    GO:0021680cerebellar Purkinje cell layer development IEA--
    GO:0021766hippocampus development IEA--
    GO:0021794thalamus development IEA--

    UQCRQ for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for UQCRQ (QCR8)

    3 HMDB Compounds for UQCRQ    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--

    8 DrugBank Compounds for UQCRQ    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-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



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for UQCRQ gene: 
    NM_014402.4  

    Unigene Cluster for UQCRQ:

    Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
    Hs.146602  [show with all ESTs]
    Unigene Representative Sequence: NM_014402
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378670(uc003kya.1) ENST00000378667 ENST00000498309 ENST00000496429
    ENST00000378665 ENST00000480372

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate UQCRQ:
    hsa-miR-3674 hsa-miR-599 hsa-miR-3919 hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidUQCRQ 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat UQCRQ
      QuantiFast Probe-based Assays in human, mouse, rat UQCRQ

    Additional mRNA sequence: 

    AK312148.1 BC001390.2 BC064949.1 BC090048.1 

    13 DOTS entries:

    DT.100645786  DT.100644535  DT.100825384  DT.92392802  DT.450378  DT.120856093  DT.91770719  DT.97862097 
    DT.100825382  DT.100825375  DT.120856106  DT.91971343  DT.101986391 

    Selected AceView cDNA sequences (see all 451):

    BQ677978 BM873396 F31144 BG534443 BC064949 BE276468 BU190580 AJ710608 
    CB109284 AJ707346 CB528905 AA563872 BI759710 CB162850 BQ071311 AA047015 
    AA526828 BM709451 BM768753 AU119402 BU730904 AJ708102 AA010879 AI284006 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for UQCRQ    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b
    SP1:                    -               
    SP2:                    -               
    SP3:                                    
    SP4:              -     -               
    SP5:                    -               


    ECgene alternative splicing isoforms for UQCRQ

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UQCRQ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGACTGAA
    UQCRQ Expression
    About this image


    UQCRQ expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Adipose (Muscoskeletal System)
             Thoracic Perivascular Adipose
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
    UQCRQ Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UQCRQ Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146602
        Pathway & Disease-focused RT2 Profiler PCR Array including UQCRQ: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat UQCRQ
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRQ

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for UQCRQ gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uqcrq1 , 5 ubiquinol-cytochrome c reductase, complex III subunit VII less1, 5 78.86(n)1
    79.27(a)1
      11 (31.94 cM)5
    222721  NM_025352.21  NP_079628.11 
     534279225 
    chicken
    (Gallus gallus)
    Aves LOC1008581141 cytochrome b-c1 complex subunit 8-like 65.45(n)
    62.2(a)
      100858114  XM_003642090.2  XP_003642138.1 
    lizard
    (Anolis carolinensis)
    Reptilia UQCRQ6
    ubiquinol-cytochrome c reductase, complex III subu...
    66(a)
    1 ↔ 1
    GL343519.1(195630-197177)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia uqcrq1 ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa less 66.26(n)
    59.76(a)
      549408  NM_001016654.2  NP_001016654.1 
    zebrafish
    (Danio rerio)
    Actinopterygii uqcrq1 ubiquinol-cytochrome c reductase, complex III subunit VII less 62.55(n)
    54.32(a)
      436768  NM_001002495.2  NP_001002495.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG75801 CG7580 53.91(n)
    46.91(a)
      39950  NM_001202196.2  NP_001189125.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UQCRQ gene

    UQCRQ for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UQCRQ
    PGOHUM00000246084


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UQCRQ (see all 129)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115448031,2,,4
    CMitochondrial complex III deficiency, nuclear 4 (MC3DN4)4 pathogenic1132479519(+) GGAGTC/TTTTCT 2 S F mis1 trp31Minor allele frequency- T:0.00NA 2
    rs673678451,2
    C,F--132204448(-) GCCTC-/CTGGCA 1 -- ut313Minor allele frequency- C:0.33NA CSA 6
    rs106405431,2
    C--132204824(+) CTGTG-/TT    
       
    /TTTT
    ttttt
    1 -- ds50010--------
    rs2018999101,2
    --132204827(+) TGTTT-/TGTTTTT 1 -- ds50010--------
    rs1998644501,2
    --132204828(+) GTTTT-/GTTTTT 1 -- ds50010--------
    rs737882121,2
    C--132477140(+) GTGTGG/TGTGGA 1 -- us2k12Minor allele frequency- T:0.07WA 120
    rs1874751201,2
    C--132477149(+) GACTAC/TGGTCA 1 -- us2k10--------
    rs1501313581,2
    --132477302(+) ATTTAC/TGTAAA 1 -- us2k10--------
    rs1930680201,2
    --132477312(+) AACCCA/GTTACT 1 -- us2k10--------
    rs1386502201,2
    --132477439(+) TGAAAC/TTTCTA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UQCRQ (132202252 - 132204536 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for UQCRQ:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5004CNV Insertion18451855
    nsv830489CNV Loss17160897
    nsv5003CNV Loss18451855
    nsv882919CNV Gain21882294

    Human Gene Mutation Database (HGMD): UQCRQ
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UQCRQ
    DNA2.0 Custom Variant and Variant Library Synthesis for UQCRQ

    (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.)
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    OMIM gene information: 612080   
    OMIM disorders: 615159  
    UniProtKB/Swiss-Prot: QCR8_HUMAN, O14949
  • Mitochondrial complex III deficiency, nuclear 4 (MC3DN4) [MIM:615159]: A disorder of the mitochondrial
    respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical
    features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver
    dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 17 diseases for UQCRQ:    
    About MalaCards
    mitochondrial respiratory chain complex iii deficiency, uqcrq related    mitochondrial complex iii deficiency, nuclear type 4    mitochondrial complex iii deficiency    mitochondrial complex iii deficiency, nuclear type 6
    lactic acidosis    ulcerative colitis    huntington's disease    fatty liver disease
    parkinson's disease    ataxia    liver disease    alzheimer's disease
    malaria    multiple myeloma    myeloma    cerebritis
    neuronitis


    UQCRQ for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): UQCRQ
    Human Genome Epidemiology (HuGE) Navigator: UQCRQ (1 document)

    Export disorders for UQCRQ 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)
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    PubMed articles for UQCRQ gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with UQCRQ)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. (PubMed id 18439546)1, 2, 9 Barel O.... Birk O.S. (Am. J. Hum. Genet. 2008)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Oxidative modification of mitochondrial respiratory complexes in response to the stress of Trypanosoma cruzi infection. (PubMed id 15544925)1, 3 Wen J.J. and Garg N. (amp 2004)
    4. 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. (Genome Res. 2004)
    5. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. (PubMed id 8592474)1, 2 Schaegger H.... von Jagow G. (Methods Enzymol. 1995)
    6. The small molecular mass ubiquinone-binding protein (QPc-9.5 kDa) in mitochondrial ubiquinol-cytochrome c reductase: isolation, ubiquinone-binding domain, and immunoinhibition. (PubMed id 2164842)1, 3 Usui S....Yu C.A. (Biochemistry 1990)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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)
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    Entrez Gene: 27089 HGNC: 29594 AceView: QP-C Ensembl:ENSG00000164405 euGenes: HUgn27089
    ECgene: UQCRQ Kegg: 27089 H-InvDB: UQCRQ

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UQCRQ Pharmacogenomics, SNPs, Pathways

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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