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

UQCRQ Gene

protein-coding   GIFtS: 57
GCID: GC05P132231

ubiquinol-cytochrome c reductase, complex III subunit VII,...
 Explore 7 diseases affiliated with
UQCRQ via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for UQCRQ    

Aliases
for UQCRQ 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, Complex III Subunit VII, 9.5kDa1 2     Ubiquinol-Cytochrome C Reductase Complex 9.5 KDa Protein2 3
QCR81 2     Ubiquinol-Cytochrome C Reductase Complex Ubiquinone-Binding Protein QP-C2 3
QP-C1 2     QPC2 5
UQCR71 2     Cytochrome B-C1 Complex Subunit 82
Complex III Subunit 82 3     Low Molecular Mass Ubiquinone-Binding Protein (9.5kD)2
Complex III Subunit VIII2 3     

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


Summaries
for UQCRQ gene

(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:
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)

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




Genomic Views
for UQCRQ 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_000005.9  NC_018916.1  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

Proteins
for UQCRQ 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14949

    • UQCRQ Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055217.2  
    ENSEMBL proteins: 
     ENSP00000367939   ENSP00000367936   ENSP00000367934  
    Reactome Protein details: O14949
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    Browse ProSpec Recombinant Proteins
    Uscn 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



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    Uscn ELISAs and CLIAs for UQCRQ

    Protein Domains /
    Families
    for UQCRQ gene

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

    1 InterPro domain/family:
     IPR004205 Cyt_bc1_su8

    Graphical View of Domain Structure for InterPro Entry O14949

    ProtoNet protein and cluster: O14949

    1 Blocks protein family: IPB004205 UcrQ

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


    Function
    for UQCRQ 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: 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

    miRNA
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    hsa-miR-3674 hsa-miR-599 hsa-miR-3919 hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmid: UQCRQ 3' UTR sequence
    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): 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


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


    Pathways & Interactions
    for UQCRQ 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 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


    5/6         Kegg Pathways  (Kegg details for UQCRQ) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Alzheimer's disease
    Parkinson'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)
    GCOM1P0CAP12, 3, ENSP000003699434MINT-65203 I2D: score=4 STRING: ENSP00000369943
    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
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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



    Drugs & Compounds
    for UQCRQ 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UQCRQ

    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 

    Transcripts
    for UQCRQ 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 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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    hsa-miR-3674 hsa-miR-599 hsa-miR-3919 hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmid: UQCRQ 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UQCRQ (see all 7)
    OriGene shRNA RFP: UQCRQ
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UQCRQ
    Clone
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    Additional cDNA 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):

    BU730904 BM717583 AA873397 BE389237 AW960405 AA563872 BM785472 BQ918861 
    BM874355 CB162850 BU733410 BM701597 AU076454 BQ640189 BI759710 AV681841 
    BC064949 N92523 AA677320 AI284006 BM856125 AA026288 BM674593 CB106656 

    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

    Expression
    for UQCRQ 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

    UQCRQ expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGGGACTGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    UQCRQ expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Gut TubeVentral Foregut EndodermGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for UQCRQ 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 animals.

    Orthologs for UQCRQ gene from 5/19 species (see all 19)    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 more1, 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
    		 --
    		 66(a)
    		 1 ↔ 1
    		 GL343519.1(195630-197177)
    zebrafish
    (Danio rerio)    		 Actinopterygii uqcrq1 ubiquinol-cytochrome c reductase, complex III subunit more 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
    for UQCRQ gene

    (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


    Genomic Variants
    for UQCRQ 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

    10/57 NCBI SNPs in UQCRQ are shown (see all 57)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs115448031,2
    		Cpathogenic132202707(+) GGAGTC/TTTTCT 2 S F mis1 trp31Minor allele frequency- T:0.00NA 2
    rs131837341,2
    		C,F,--132202539(+) AGCGCC/TTGTCC 1 -- int1 ese35Minor allele frequency- T:0.01NA EU 626
    rs1379953161,2
    		C,F,--132202583(+) GCCGCG/AAGTTT 2 /K /E mis11Minor allele frequency- A:0.00NA 4540
    rs2005675281,2
    		--132202657(+) TATCCG/TCACGT 2 P syn10--------
    rs1463075581,2
    		C,F,--132202663(+) CACGTC/TTTCAC 2 V syn11Minor allele frequency- T:0.00NA 4550
    rs360934161,2
    		C,F,--132202681(-) ACATTG/CGGGAT 2 /P syn12Minor allele frequency- C:0.01NA 4626
    rs1456494821,2
    		C,F,--132202744(+) GGGCCC/TGCGGG 1 -- int11Minor allele frequency- T:0.02EU 507
    rs1477800341,2
    		--132202789(+) ACTGCC/GCCTCC 1 -- int10--------
    rs793236071,2
    		F,--132203057(+) GCATGG/TCCTTG 1 -- int11Minor allele frequency- T:0.03NA 120
    rs801922781,2
    		C,F,--132203152(+) TGTGCT/GCTCTG 1 -- int12Minor allele frequency- G:0.05WA EA 238

    HapMap Linkage Disequilibrium report for UQCRQ (132202252 - 132204536 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for UQCRQ: --
    Human Gene Mutation Database (HGMD): UQCRQ

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UQCRQ
    DNA2.0 Custom Variant and Variant Library Synthesis for UQCRQ

    Disorders / Diseases
    for UQCRQ 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
    UQCRQ for disorders           About GeneDecksing

    OMIM gene information: 612080   
    OMIM disorders: 124000  
    UniProtKB/Swiss-Prot: QCR8_HUMAN, O14949
  • Defects in UQCRQ are a cause of mitochondrial complex III deficiency (MT-C3D) [MIM:124000]. 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

    7 diseases for UQCRQ:    About MalaCards
    mitochondrial complex iii deficiency    lactic acidosis    ulcerative colitis    huntington's disease
    parkinson's disease    ataxia    neuronitis

    Human Genome Epidemiology (HuGE) Navigator: UQCRQ (1 document)

    Export disorders for UQCRQ gene to outside databases

    Publications
    for UQCRQ 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 UQCRQ gene, integrated from 9 sources (see all 15):
    (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. 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)
    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. (2004)
    4. Ubiquinol-cytochrome-c reductase from human and bovine mitochondria. (PubMed id 8592474)1, 2 Schaegger H.... von Jagow G. (1995)
    5. 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)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. 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)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    10. Mitochondrial respiratory chain in the colonic mucosa l of patients with ulcerative colitis. (PubMed id 20440543)1 Sifroni K.G....Streck E.L. (2010)

    External Searches for UQCRQ 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 UQCRQ gene

    (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

    Other Databases showing UQCRQ gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UQCRQ 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 UQCRQ Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for UQCRQ gene

    (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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