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

UQCRQ Gene

protein-coding   GIFtS: 61
GCID: GC05P132231

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)
About This Section

Aliases
Ubiquinol-Cytochrome C Reductase, Complex III Subunit VII, 9.5kDa1 2     Ubiquinol-Cytochrome C Reductase1
Complex III Subunit 81 2 3     MC3DN42
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
QPC2 5     Cytochrome B-C1 Complex Subunit 82
Complex III Subunit VII1     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 identifer: GC05P127395


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

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, 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.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UQCRQ

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC05P132231:  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 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: 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)
Subcellular location: Mitochondrion inner membrane
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O14949

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

    UQCRQ Protein Expression
    REFSEQ proteins: NP_055217.2  
    ENSEMBL proteins: 
     ENSP00000367939   ENSP00000367936   ENSP00000367934  
    Reactome Protein details: O14949
    Human Recombinant Protein Products for UQCRQ: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UQCRQ 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    UQCRQ for ontologies           About GeneDecksing



    UQCRQ Antibody Products: 
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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

    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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for UQCRQ 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UQCRQ 
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    SwitchGear 3'UTR luciferase reporter plasmidUQCRQ 3' UTR sequence
    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 UQCRQ 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 UQCRQ
        Electron Transport Chain

    4        Reactome Pathways for UQCRQ
        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 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

    Interactions:

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

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

    5/90 Interacting proteins for UQCRQ (O149492, 3 ENSP000003679344) via UniProtKB, MINT, STRING, and/or I2D (see all 90)
    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
    UQCRC1P319303, ENSP000002034074I2D: score=1 STRING: ENSP00000203407
    POLR2MP0CAP23I2D: score=3 
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (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 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    Search CenterWatch for drugs/clinical trials and news about UQCRQ / QCR8

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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 QIAGEN miScript miRNA 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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    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 

    24/451 AceView cDNA sequences (see all 451):

    AW473724 AA742448 AW162092 AI221457 BG534443 BM674593 AJ345970 AJ710608 
    F31144 BC001390 F26096 BQ677978 BU190580 AI126923 BM558841 AW005774 
    AW960405 BM709451 AA677320 BM856125 N92523 AW160669 T47407 BE276468 

    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™, 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

    UQCRQ expression in normal human tissues (normalized intensities)      UQCRQ embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/midbrain   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

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

    SOURCE GeneReport for Unigene cluster: Hs.146602
        SABiosciences Expression via Pathway-Focused PCR Array including UQCRQ: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for UQCRQ gene from 5/13 species (see all 13)    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_003642090.1  XP_003642138.1 
    lizard
    (Anolis carolinensis)
    Reptilia UQCRQ6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    GL343519.1(195630-197177)
    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_140728.3  NP_648985.1 


    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)
    About This Section
    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) 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

    10/129 SNPs in UQCRQ are shown (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 612080   
    OMIM disorders: 124000  
    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

  • 9 diseases for UQCRQ:    About MalaCards
    mitochondrial respiratory chain complex iii deficiency, uqcrq related    mitochondrial complex iii deficiency    lactic acidosis    ulcerative colitis
    huntington's disease    parkinson's disease    ataxia    alzheimer's disease
    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)
    About This Section

    PubMed articles for UQCRQ gene, integrated from 9 sources (see all 16):
    (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. (2008)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. 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)
    4. 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. (2004)
    5. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. (PubMed id 8592474)1, 2 Schaegger H.... von Jagow G. (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. (1990)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (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. (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)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 27089 HGNC: 29594 AceView: QP-C Ensembl:ENSG00000164405 euGenes: HUgn27089
    ECgene: UQCRQ Kegg: 27089 H-InvDB: UQCRQ

    (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 UQCRQ 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 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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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