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UQCRHL Gene

pseudogene   GIFtS: 24
GCID: GC01M016134

Ubiquinol-Cytochrome C Reductase Hinge Protein-Like


Alzheimer's & Parkinson's Diseases Congress
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(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
hCG253712
Ubiquinol-Cytochrome C Reductase Hinge Protein-Like2

External Ids:    Entrez Gene: 4405672   Ensembl: ENSG000002339547   

Export aliases for UQCRHL gene to outside databases


(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 UQCRHL Gene:
This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading
frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is
being called protein-coding for now. (provided by RefSeq, Jul 2008)

GeneCards Summary for UQCRHL Gene:
UQCRHL is a pseudogene. Diseases associated with UQCRHL include huntington's disease, and fatty liver disease.




(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_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the UQCRHL gene promoter:
         c-Fos   AP-1   p53   JunB   Fra-1   FosB   STAT5A   NF-E2 p45   c-Jun   NF-E2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UQCRHL


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

Entrez Gene cytogenetic band: 1p36.21   Ensembl cytogenetic band:  1p36.21   

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M016134:  view genomic region     (about GC identifiers)

Start:
16,133,657 bp from pter      End:
16,134,194 bp from pter
Size:
538 bases      Orientation:
minus 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: --
Post-translational modifications: 
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_001083060.1  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    (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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    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (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 UQCRHL 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 UQCRHL
        Electron Transport Chain


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


    UQCRHL for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UQCRHL
    Interactions:

        Search GeneGlobe Interaction Network for UQCRHL

    (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 UQCRHL



    (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 UQCRHL gene: 
    NM_001089591.1  

    Unigene Cluster for UQCRHL:

    Ubiquinol-cytochrome c reductase hinge protein-like
    Hs.568229  [show with all ESTs]
    Unigene Representative Sequence: BX537499
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000483273 ENST00000538385(uc009vol.1)

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    Additional mRNA sequence: BX537499.1 

    15 DOTS entries:

    DT.100792845  DT.80100620  DT.95281183  DT.100685845  DT.100685847  DT.95325186  DT.100685843  DT.121326342 
    DT.121326346  DT.121326418  DT.121326425  DT.121326544  DT.95264703  DT.95264706  DT.97760295 

    Selected AceView cDNA sequences (see all 26):

    CD675141 BM727628 AV703594 BX537499 N86773 C03969 F26209 BU927974 
    AA132332 AW731911 AI350125 AI097353 BV202291 W16766 AW160957 H50444 
    AW238658 AA093070 AA094371 AI469808 BV202290 AA188736 BV202293 AA491710 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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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    UQCRHL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACTGGAGG
    UQCRHL Expression
    About this image

    UQCRHL Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

    SOURCE GeneReport for Unigene cluster: Hs.568229
        Custom PCR Arrays for UQCRHL
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UQCRHL

    (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 human and mouse.

    Orthologs for UQCRHL gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm97635
    Uqcrh1
    predicted pseudogene 97635
    ubiquinol-cytochrome c reductase hinge protein1
    83.9(n)1
    88.76(a)1
      15 (56.13 cM)5
    665761  NM_025641.31  NP_079917.11 
     998982875 


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

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

    (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 UQCRHL (see all 90)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407144591,2
    --16133357(+) TGGCTC/TGTACC 1 -- ds50010--------
    rs1927261881,2
    --16133391(+) CTAAGG/TCAGGC 1 -- ds50010--------
    rs127383401,2
    C,A--16133396(+) GCAGGA/CGGATC 1 -- ds50017Minor allele frequency- C:0.19WA NA CSA EA 248
    rs1124517751,2
    C,F--16133514(+) TTTTTG/TGAGAC 1 -- ds50011Minor allele frequency- T:0.50WA 2
    rs561378311,2
    C,F--16133525(+) AGAGTA/CTTGCT 1 -- ds50014Minor allele frequency- C:0.11WA CSA NA 125
    rs1884716751,2
    --16133624(+) CCCACA/GTAGCT 1 -- ds50010--------
    rs666730121,2
    C,F--16133838(+) AGATGA/TTGAAG 1 -- ut315Minor allele frequency- T:0.19WA CSA NA EA 362
    rs1129368071,2
    C--16133846(+) AAGGCG/TGGGGT 1 -- ut310--------
    rs1131815961,2
    C--16133904(+) CACGCA/C/GATGGT 3 R G C mis11CSA 1
    rs1816562651,2
    C--16133974(+) GAGGAC/TACATG 2 V syn10--------

    HapMap Linkage Disequilibrium report for UQCRHL (16133657 - 16134194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for UQCRHL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833647CNV Loss17160897
    nsv870503CNV Loss21882294
    nsv524044CNV Loss19592680
    nsv871162CNV Gain21882294
    dgv27e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    5 diseases for UQCRHL:    
    About MalaCards
    huntington's disease    fatty liver disease    parkinson's disease    alzheimer's disease
    liver disease


    UQCRHL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for UQCRHL 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 article for UQCRHL gene integrated from 10 sources:
    (articles sorted by number of sources associating them with UQCRHL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (Science 2001)

    (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: 440567 AceView: LOC440567 Ensembl:ENSG00000233954 euGenes: HUgn440567 Kegg: 440567

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

    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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