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

UQCRHL Gene

pseudogene   GIFtS: 24
GCID: GC01M016134

Ubiquinol-Cytochrome C Reductase Hinge Protein-Like


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

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 parkinson's disease, and among its related super-pathways are Electron Transport Chain and Metabolism.




(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_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences 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

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: --
UQCRHL Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
REFSEQ proteins: NP_001083060.1  
Human Recombinant Protein Products for UQCRHL: 
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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
  --

(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

Animal Models:
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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 UQCRHL About                                                                                                See pathways by source

SuperPathContained pathways About
1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Electron Transport Chain0.75
Huntington's disease0.47
Oxidative phosphorylation0.64
Alzheimer's disease0.46
Parkinson's disease0.61
Non-alcoholic fatty liver disease (NAFLD)0.41
2Metabolism
Metabolic pathways0.40
3Cardiac muscle contraction
Cardiac muscle contraction

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for UQCRHL
    Electron Transport Chain


5/7         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

Interactions:

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

(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
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Search CenterWatch for drugs/clinical trials and news about 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,
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 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)

miRNA
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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 

24/26 AceView cDNA sequences (see all 26):

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

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


SOURCE GeneReport for Unigene cluster: Hs.568229
    SABiosciences Custom PCR Arrays for UQCRHL
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In Situ
Assay Products:
 

 
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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for UQCRHL gene from 1/2 species (see all 2)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm97631 , 5 predicted pseudogene 97631, 5 80.52(n)1
80.9(a)1
  15 (56.13 cM)5
1000429181  XM_003688939.11  XP_003688987.11 
 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)
About This Section
  --

(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

10/90 SNPs in UQCRHL are shown (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

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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.)
About This Section
3 diseases for UQCRHL:    About MalaCards
huntington's disease    parkinson's disease    alzheimer's 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)
About This Section

PubMed article for UQCRHL gene integrated from 9 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. (2001)

(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)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 440567 AceView: LOC440567 Ensembl:ENSG00000233954 euGenes: HUgn440567 Kegg: 440567

(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
  --

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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