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

UQCRC1 Gene

protein-coding   GIFtS: 66
GCID: GC03M048636

Ubiquinol-Cytochrome C Reductase Core Protein I
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at
MalaCards
 

Aliases
for UQCRC1 gene

(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 Core Protein I1 2     D3S31912
Complex III Subunit 12 3     QCR12
Core Protein I2 3     UQCR12
Ubiquinol-Cytochrome-C Reductase Complex Core Protein 12 3     Cytochrome B-C1 Complex Subunit 1, Mitochondrial2

External Ids:    HGNC: 125851   Entrez Gene: 73842   Ensembl: ENSG000000102567   OMIM: 1913285   UniProtKB: P319303   

Export aliases for UQCRC1 gene to outside databases

Previous GC identifers: GC03M048426 GC03M047919 GC03M048597 GC03M048611


Summaries
for UQCRC1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for UQCRC1 Gene: 
UQCRC1 (ubiquinol-cytochrome c reductase core protein I) is a protein-coding gene. Diseases associated with UQCRC1 include huntington's disease, and cystic fibrosis, 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 and metalloendopeptidase activity. An important paralog of this gene is PMPCB.

UniProtKB/Swiss-Prot: QCR1_HUMAN, P31930
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 protein may mediate formation of the complex
between cytochromes c and c1

Gene Wiki entry for UQCRC1 Gene


Genomic Views
for UQCRC1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UQCRC1 gene promoter:
         HOXA9   GR   AP-1   GR-beta   ATF-2   MyoD   HNF-4alpha2   HNF-4alpha1   c-Jun   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UQCRC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UQCRC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UQCRC1


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

Entrez Gene cytogenetic band: 3p21.3   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21

UQCRC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UQCRC1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M048636:  view genomic region     (about GC identifiers)

Start:
 48,636,432 bp from pter      End:
 48,648,409 bp from pter
Size:
 11,978 bases      Orientation:
 minus strand

Proteins
for UQCRC1 gene

(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: QCR1_HUMAN, P31930 (See protein sequence)
Recommended Name: Cytochrome b-c1 complex subunit 1, mitochondrial precursor  
Size: 480 amino acids; 52646 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
Caution: Does not seem to have a protease activity as it lack the zinc-binding site
Secondary accessions: B2R7R8 Q96DD2

Explore the universe of human proteins at neXtProt for UQCRC1: NX_P31930

Explore proteomics data for UQCRC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P31930

    • UQCRC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UQCRC1 Protein Expression
    REFSEQ proteins: NP_003356.2  
    ENSEMBL proteins: 
     ENSP00000203407   ENSP00000393696   ENSP00000388660  
    Reactome Protein details: P31930
    Human Recombinant Protein Products for UQCRC1: 
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    Cloud-Clone Corp. Proteins for UQCRC1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005746mitochondrial respiratory chain TAS8407948
    GO:0005750mitochondrial respiratory chain complex III IEA--

    UQCRC1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for UQCRC1 gene

    (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

    4 InterPro protein domains:
     IPR007863 Peptidase_M16_C
     IPR011765 Pept_M16_N
     IPR011249 Metalloenz_LuxS/M16
     IPR011237 Pept_M16_dom

    Graphical View of Domain Structure for InterPro Entry P31930

    ProtoNet protein and cluster: P31930

    1 Blocks protein domain: IPB001431 Insulinase-like peptidase

    UniProtKB/Swiss-Prot: QCR1_HUMAN, P31930
    Similarity: Belongs to the peptidase M16 family. UQCRC1/QCR1 subfamily


    UQCRC1 for domains           About GeneDecksing


    Function
    for UQCRC1 gene

    (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: QCR1_HUMAN, P31930
    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 protein may mediate formation of the complex
    between cytochromes c and c1

         Genatlas biochemistry entry for UQCRC1:
    ubiquinol cytochrome c reductase,core protein 1,component of complex III of mitochondrial respiratory
    chain,oxidative phosphorylation (OXPHOS)

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding ----
    GO:0008121ubiquinol-cytochrome-c reductase activity TAS8407948
    GO:0032403protein complex binding IEA--
    GO:0046872metal ion binding IEA--
         
    UQCRC1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UQCRC1:
     Decreased Salmonella enterica  

         1 MGI phenotypic allele for Uqcrc1 (no phenotypes)

    UQCRC1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UQCRC1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UQCRC1 
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    miRNA
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    Gene Editing
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    Pathways & Interactions
    for UQCRC1 gene

    (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 UQCRC1 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 UQCRC1
        Electron Transport Chain

    4        Reactome Pathways for UQCRC1
        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 UQCRC1) (see all 7):
        Oxidative phosphorylation
    Metabolic pathways
    Cardiac muscle contraction
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease


    UQCRC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UQCRC1

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

    5/337 Interacting proteins for UQCRC1 (P319302, 3 ENSP000002034074) via UniProtKB, MINT, STRING, and/or I2D (see all 337)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UQCRFS1P479852, 3, ENSP000003063974MINT-8079030 I2D: score=1 STRING: ENSP00000306397
    UQCRC2P226952, 3, ENSP000002683794MINT-8079030 I2D: score=4 STRING: ENSP00000268379
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503720 I2D: score=2 STRING: ENSP00000363390
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    CYCSP999993, ENSP000003077864I2D: score=3 STRING: ENSP00000307786
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006119oxidative phosphorylation TAS8407948
    GO:0006122mitochondrial electron transport, ubiquinol to cytochrome c IEA--
    GO:0009060aerobic respiration TAS8407948
    GO:0014823response to activity IEA--
    GO:0022904respiratory electron transport chain TAS--

    UQCRC1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for UQCRC1 gene

    (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 UQCRC1 (QCR1)

    3 HMDB Compounds for UQCRC1    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--

    9 DrugBank Compounds for UQCRC1    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
    Myxothiazol-- 76706-55-3target--10592235
    UBIQUINONE-2-- --target--10592235

    Search CenterWatch for drugs/clinical trials and news about UQCRC1 / QCR1

    Transcripts
    for UQCRC1 gene

    (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 UQCRC1 gene: 
    NM_003365.2  

    Unigene Cluster for UQCRC1:

    Ubiquinol-cytochrome c reductase core protein I
    Hs.119251  [show with all ESTs]
    Unigene Representative Sequence: L16842
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471189 ENST00000203407(uc003cub.1) ENST00000480561 ENST00000415995
    ENST00000460105 ENST00000472438 ENST00000412343 ENST00000467690 ENST00000463708
    ENST00000493806

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    Additional mRNA sequence: 

    AK129903.1 AK300694.1 AK302840.1 AK313090.1 BC009586.1 BC127208.1 BC127209.1 D26485.1 
    L16842.1 

    24/29 DOTS entries (see all 29):

    DT.419800  DT.95184760  DT.100881541  DT.97860726  DT.95125803  DT.100881539  DT.100044968  DT.100765431 
    DT.100881554  DT.85104839  DT.95127100  DT.95127202  DT.100881562  DT.120881626  DT.75188876  DT.100759986 
    DT.100831369  DT.102835469  DT.120881575  DT.120881586  DT.91977936  DT.92464897  DT.95127096  DT.95127197 

    24/71 AceView cDNA sequences (see all 71):

    BU538638 BQ063063 BM665242 BE219413 AI359223 BE044324 BX091306 BU739303 
    BM749965 BE503784 BE858103 BM712531 BQ056846 BU738328 BM714676 AW590676 
    BM674265 AI926277 BM673813 AB011536 BM555126 AW770479 BE467095 AA773736 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for UQCRC1 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                    -                                                                                               -                                 
    SP2:                    -                                                                                                                                 
    SP3:                                                                                                                                                      
    SP4:                                                                                                                                                      
    SP5:                                                  -                                                                                                   


    ECgene alternative splicing isoforms for UQCRC1

    Expression
    for UQCRC1 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

    UQCRC1 expression in normal human tissues (normalized intensities)      UQCRC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGGCTGC
    UQCRC1 Expression
    About this image


    UQCRC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/42 selected tissues (see all 42) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             heart muscle ; myocytes   
             heart/ventricle   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See UQCRC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UQCRC1

    SOURCE GeneReport for Unigene cluster: Hs.119251
        SABiosciences Expression via Pathway-Focused PCR Arrays including UQCRC1: 
              Mitochondrial Energy Metabolism in human mouse rat
              Alzheimer's Disease in human mouse rat

    Primer
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    Orthologs
    for UQCRC1 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 and fungi.

    Orthologs for UQCRC1 gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Uqcrc11 , 5 ubiquinol-cytochrome c reductase core protein 11, 5 85.76(n)1
    88.75(a)1    		   9 (59.63 cM)5
    222731  NM_025407.21  NP_079683.21 
     1089366485 
    chicken
    (Gallus gallus)    		 Aves UQCRC11 ubiquinol-cytochrome c reductase core protein I 70.44(n)
    70.02(a)    		   416013  XM_414356.3  XP_414356.1 
    lizard
    (Anolis carolinensis)    		 Reptilia UQCRC16
    		 Uncharacterized protein
    		 66(a)
    		 1 ↔ 1
    		 2(164416907-164439137)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC537482 similar to ubiquinol-cytochrome c reductase core protein more 73.94(n)    BC049288.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc734042 hypothetical protein MGC73404 72.98(n)   393793  BC059705.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG37313 mitochondrial processing peptidase 57(a)   88D6   --
    worm
    (Caenorhabditis elegans)    		 Secernentea ZC410.23
    ucr-11    		 mitochondrial processing peptidase3
    Protein UCR-11    		 43(a)
    (best of 2)3
    49.25(n)1
    40.32(a)1    		   IV(9074536-9076682)3
    1757721  NM_065801.51  NP_498202.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes COR1(YBL045C)4 Core subunit of the ubiquinol-cytochrome c reductase more   --   2(135516-134143) 852235  NP_009508.1 


    ENSEMBL Gene Tree for UQCRC1 (if available)
    TreeFam Gene Tree for UQCRC1 (if available)

    Paralogs
    for UQCRC1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UQCRC1 gene
    PMPCB2  
    2 SIMAP similar genes for UQCRC1 using alignment to 3 protein entries:     QCR1_HUMAN (see all proteins):
    DKFZp586I1223    PMPCB

    UQCRC1 for paralogs           About GeneDecksing



    Genomic Variants
    for UQCRC1 gene

    (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

    10/331 SNPs in UQCRC1 are shown (see all 331)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1494170731,2
    		--48636018(+) AAGAGA/GCATCC 1 -- ds50010--------
    rs104520301,2
    		C,F,H--48636099(+) GTGAGG/AGGTTT 1 -- ds50018Minor allele frequency- A:0.01NS EA NA 1088
    rs1128166231,2
    		C--48636182(+) ACTCCC/TACAGC 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs1379425481,2
    		C--48636206(+) CAGCTA/GGCTGA 1 -- ds50010--------
    rs1424236691,2
    		--48636304(+) GCTTGC/TCCCTG 1 -- ds50010--------
    rs1459461641,2
    		--48636357(+) AGCCAC/GAGAAC 1 -- ds50010--------
    rs1398278461,2
    		--48636464(+) GGTCAC/TCTGTG 1 -- ut310--------
    rs91661,2
    		C,F--48636507(-) CCCCCC/AACCAC 1 -- ut31 ese3 trp33Minor allele frequency- A:0.04MN NA EU 779
    rs85471,2
    		C,F--48636509(-) CCCCCC/TCCACC 1 -- ut31 ese3 trp33Minor allele frequency- T:0.01MN NA EU 779
    rs1391741231,2
    		C--48636559(+) TTCCCG/ACCTAG 1 -- ut311Minor allele frequency- A:0.00EU 1197

    HapMap Linkage Disequilibrium report for UQCRC1 (48636432 - 48648409 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for UQCRC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv876762CNV Loss21882294
    nsv834685CNV Loss17160897
    nsv3811CNV Loss18451855
    nsv523981CNV Loss19592680
    nsv822074CNV Gain20364138
    nsv818138CNV Gain17921354

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    Disorders / Diseases
    for UQCRC1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    		 OMIM gene information: 191328    OMIM disorders: --

    7 diseases for UQCRC1:    About MalaCards
    huntington's disease    cystic fibrosis    pneumonia    parkinson's disease
    schizophrenia    tuberculosis    alzheimer's disease


    UQCRC1 for disorders           About GeneDecksing


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

    1 Novoseek inferred disease relationship for UQCRC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 16775426 (1)

    Genetic Association Database (GAD): UQCRC1
    Human Genome Epidemiology (HuGE) Navigator: UQCRC1 (1 document)

    Export disorders for UQCRC1 gene to outside databases

    Publications
    for UQCRC1 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 UQCRC1 gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with UQCRC1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol- cytochrome c reductase. (PubMed id 8407948)1, 2, 3 Hoffman G.G.... Greenspan D.S. (1993)
    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. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)1, 2 Aboulaich N.... Vener A.V. (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. (2004)
    5. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency. (PubMed id 10453733)1, 2 Valnot I.... Roetig A. (1999)
    6. A complete cDNA sequence for core I protein subunit of human ubiquinol-cytochrome c reductase. (PubMed id 8069229)1, 2 Islam M.M.... Ozawa T. (1994)
    7. A complete cDNA sequence for core I protein subunit of human ubiquinol-cytochrome c reductase. (PubMed id 7981668)1, 2 Islam M.M....Ozawa T. (1994)
    8. A complete cDNA sequence for core I protein subunit of human ubiquinol-cytochrome c reductase. (PubMed id 7951059)1, 2 Islam M.M....Ozawa T. (1994)
    9. Human liver protein map: update 1993. (PubMed id 8313870)1, 2 Hughes G.J.... Hochstrasser D.F. (1993)
    10. Proteomic analysis of mitochondria-to-nucleus retrograde response in human cancer. (PubMed id 16775426)1, 9 Kulawiec M....Singh K.K. (2006)

    External Searches for UQCRC1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing UQCRC1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7384 HGNC: 12585 AceView: UQCRC1 Ensembl:ENSG00000010256 euGenes: HUgn7384
    ECgene: UQCRC1 Kegg: 7384 H-InvDB: UQCRC1

    Other Databases showing UQCRC1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing UQCRC1 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 UQCRC1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for UQCRC1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for UQCRC1 gene:
    Search GeneIP for patents involving UQCRC1

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



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