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UBR7 Gene

protein-coding   GIFtS: 50
GCID: GC14P093673

Ubiquitin Protein Ligase E3 Component N-Recognin 7 (Putative)

(Previous name: chromosome 14 open reading frame 130)
(Previous symbol: C14orf130)
  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)
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Aliases
Ubiquitin Protein Ligase E3 Component N-Recognin 7 (Putative)1 2
C14orf1301 2 3
N-recognin-72 3
Chromosome 14 Open Reading Frame 1301
Putative E3 Ubiquitin-Protein Ligase UBR72
EC 6.3.2.-3

External Ids:    HGNC: 203441   Entrez Gene: 551482   Ensembl: ENSG000000129637   OMIM: 6138165   UniProtKB: Q8N8063   

Export aliases for UBR7 gene to outside databases

Previous GC identifers: GC14P092744 GC14P073853


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UBR7 Gene:
UBR7 (ubiquitin protein ligase E3 component n-recognin 7 (putative)) is a protein-coding gene. Diseases associated with UBR7 include ataxia, and malaria. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is ENSG00000259066.

UniProtKB/Swiss-Prot: UBR7_HUMAN, Q8N806
Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to
proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to
their ubiquitination and subsequent degradation (By similarity)




(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_000014.9  NC_018925.2  NT_026437.13  NT_187601.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBR7 gene promoter:
         STAT1   STAT1beta   Evi-1   GATA-2   STAT1alpha   AREB6   Pax-3   POU2F1a   STAT3   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): UBR7 promoter sequence
   Search Chromatin IP Primers for UBR7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBR7


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

Entrez Gene cytogenetic band: 14q32.12   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q32.12

UBR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBR7 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P093673:  view genomic region     (about GC identifiers)

Start:
93,673,401 bp from pter      End:
93,695,561 bp from pter
Size:
22,161 bases      Orientation:
plus 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UBR7_HUMAN, Q8N806 (See protein sequence)
Recommended Name: Putative E3 ubiquitin-protein ligase UBR7  
Size: 425 amino acids; 47999 Da
Sequence caution: Sequence=AAH15046.1; Type=Erroneous initiation; Sequence=AAH51819.4; Type=Erroneous initiation;
Sequence=BAA91639.1; Type=Erroneous initiation;
Secondary accessions: Q86U21 Q86UA9 Q96BY0 Q9NVV6

Explore the universe of human proteins at neXtProt for UBR7: NX_Q8N806

Explore proteomics data for UBR7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys384, Lys398, Lys412, Lys413
  • Modification sites at PhosphoSitePlus

  • See UBR7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_786924.2  
    ENSEMBL proteins: 
     ENSP00000013070   ENSP00000450645   ENSP00000451022   ENSP00000450470   ENSP00000451051  
     ENSP00000451785   ENSP00000452488   ENSP00000391706  

    UBR7 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for UBR7
    OriGene Protein Over-expression Lysate for UBR7
    OriGene MassSpec for UBR7
    OriGene Custom Protein Services for UBR7
    GenScript Custom Purified and Recombinant Proteins Services for UBR7
    Novus Biologicals UBR7 Proteins
    Novus Biologicals UBR7 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBR7

    UBR7 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for UBR7
    Novus Biologicals UBR7 Antibodies
    Abcam antibodies for UBR7
    Cloud-Clone Corp. Antibodies for UBR7
    ThermoFisher Antibodies for UBR7
    LSBio Antibodies in human, mouse, rat for UBR7

    UBR7 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for UBR7
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UBR7
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for UBR7
    Cloud-Clone Corp. CLIAs for UBR7


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBR: Ubiquitin protein ligase E3 component n-recognins

    4 InterPro protein domains:
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR003126 Znf_N-recognin
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry Q8N806

    ProtoNet protein and cluster: Q8N806

    1 Blocks protein domain: IPB003126 Zn-finger (putative)

    UniProtKB/Swiss-Prot: UBR7_HUMAN, Q8N806
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 UBR-type zinc finger


    UBR7 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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBR7_HUMAN, Q8N806
    Function: E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to
    proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to
    their ubiquitination and subsequent degradation (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    UBR7 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UBR7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UBR7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBR7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UBR7

    miRNA
    Products:
        
    miRTarBase miRNAs that target UBR7:
    hsa-mir-222-3p (MIRT046609), hsa-mir-454-3p (MIRT039250), hsa-mir-193b-3p (MIRT016395), hsa-mir-181c-5p (MIRT047220)

    Block miRNA regulation of human, mouse, rat UBR7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBR7 (see all 42):
    hsa-miR-19b-2* hsa-miR-188-5p hsa-miR-513a-5p hsa-miR-507 hsa-miR-124 hsa-miR-506 hsa-miR-497* hsa-miR-1283
    SwitchGear 3'UTR luciferase reporter plasmidUBR7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for UBR7
    Predesigned siRNA for gene silencing in human, mouse, rat UBR7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UBR7

    Clone
    Products:
         
    OriGene clones in human, mouse for UBR7 (see all 16)
    OriGene ORF clones in mouse, rat for UBR7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBR7 (NM_175748)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR7

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UBR7
    Browse ESI BIO Cell Lines and PureStem Progenitors for UBR7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR7


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    (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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    UniProtKB/Swiss-Prot: UBR7_HUMAN, Q8N806
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including UBR7: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UBR7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for UBR7 (Q8N8062, 3 ENSP000000130704) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=2 STRING: ENSP00000350275
    HIST1H3HP684313, ENSP000003581604I2D: score=2 STRING: ENSP00000358160
    HIST1H3BP684313I2D: score=2 
    HIST1H3CP684313I2D: score=2 
    HIST1H3DP684313I2D: score=2 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    UBR7 for ontologies           About GeneDecksing



    (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 UBR7



    (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,
    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 UBR7 gene (2 alternative transcripts): 
    NM_001100417.1  NM_175748.3  

    Unigene Cluster for UBR7:

    Ubiquitin protein ligase E3 component n-recognin 7 (putative)
    Hs.648806  [show with all ESTs]
    Unigene Representative Sequence: NM_175748
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000013070(uc001ybm.4 uc001ybn.4 uc010auq.3) ENST00000554232
    ENST00000556871 ENST00000553674 ENST00000555113 ENST00000553857 ENST00000555329
    ENST00000416753
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat UBR7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBR7 (see all 42):
    hsa-miR-19b-2* hsa-miR-188-5p hsa-miR-513a-5p hsa-miR-507 hsa-miR-124 hsa-miR-506 hsa-miR-497* hsa-miR-1283
    SwitchGear 3'UTR luciferase reporter plasmidUBR7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for UBR7
    Predesigned siRNA for gene silencing in human, mouse, rat UBR7
    Clone
    Products:
         
    OriGene clones in human, mouse for UBR7 (see all 16)
    OriGene ORF clones in mouse, rat for UBR7
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: UBR7 (NM_175748)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR7
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for UBR7
    OriGene qSTAR qPCR primer pairs in human, mouse for UBR7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBR7
      QuantiTect SYBR Green Assays in human, mouse, rat UBR7
      QuantiFast Probe-based Assays in human, mouse, rat UBR7

    Additional mRNA sequence: 

    AK001345.1 AK097477.1 AK315492.1 BC015046.1 BC017013.1 BC051819.1 BX248249.1 NR_038150.1 

    14 DOTS entries:

    DT.454784  DT.100823685  DT.100712612  DT.92058462  DT.100649562  DT.100823675  DT.100823678  DT.100837712 
    DT.120754348  DT.91665379  DT.95094236  DT.95277098  DT.95277100  DT.95313776 

    Selected AceView cDNA sequences (see all 241):

    CB160690 BI823461 CD514752 Z38620 AI471191 BQ955338 BM772831 BQ008157 
    AA081718 BM713664 AI277634 AI015840 CB143002 BX457711 BU189852 AA854569 
    BI711094 AI693653 AK001345 CR602248 BE220512 AI978846 BX248249 AA700728 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for UBR7    About this scheme

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


    ECgene alternative splicing isoforms for UBR7

    (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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    UBR7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATGCAA
    UBR7 Expression
    About this image

    UBR7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBR7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.648806
        Pathway & Disease-focused RT2 Profiler PCR Array including UBR7: 
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for UBR7
    OriGene qSTAR qPCR primer pairs in human, mouse for UBR7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UBR7
    QuantiTect SYBR Green Assays in human, mouse, rat UBR7
    QuantiFast Probe-based Assays in human, mouse, rat UBR7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR7

    (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 eukaryotes.

    Orthologs for UBR7 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubr71 , 5 ubiquitin protein ligase E3 component n-recognin 7 more1, 5 86.12(n)1
    86.82(a)1
      12 (52.19 cM)5
    666221  NM_025666.21  NP_079942.11 
     1027579755 
    chicken
    (Gallus gallus)
    Aves UBR71 ubiquitin protein ligase E3 component n-recognin 7 more 73.17(n)
    75.25(a)
      772299  XM_003641310.2  XP_003641358.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    70(a)
    1 → many
    1(10897097-10915816)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985232 hypothetical protein LOC398523 74.7(n)    BC045250.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.5032 Danio rerio cDNA clone MGC55404 IMAGE2602547, complete more 76.68(n)    BC044390.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG151411 CG15141 50.76(n)
    44.29(a)
      35044  NM_135993.4  NP_609837.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T22C1.11 T22C1.1 48.26(n)
    38.43(a)
      172563  NM_059786.4  NP_492187.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G238601 AT4G23860 52.33(n)
    41.37(a)
      828485  NM_001084967.1  NP_001078436.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g05298001 Os06g0529800 51.12(n)
    41.49(a)
      4341197  NM_001064310.1  NP_001057775.1 


    ENSEMBL Gene Tree for UBR7 (if available)
    TreeFam Gene Tree for UBR7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBR7 gene
    ENSG000002590662  
    1 SIMAP similar gene for UBR7 using alignment to 10 protein entries:     UBR7_HUMAN (see all proteins):
    PHF8

    UBR7 for paralogs           About GeneDecksing



    (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 UBR7 (see all 463)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs12633931,2
    C,F,H--93675483(+) tgtgaA/C/G/
            
    aaaat
    2 -- int112NS EA NA WA 1062
    rs1137033601,2
    F--93675520(+) AATTTG/CCTGTT 2 -- int12Minor allele frequency- C:0.09CSA WA 120
    rs12633941,2
    C,F,A,H--93675594(+) cagcaG/Tgcatc 2 -- int123Minor allele frequency- T:0.34NS EA NA WA CSA 2346
    rs1912358871,2
    --93675784(+) TTCCTA/GTCACT 2 -- int10--------
    rs1487916761,2
    --93676066(+) GATCTG/TGACCA 2 -- int10--------
    rs1835243461,2
    --93676241(+) GGAATC/TTGTTT 3 I syn1 int10--------
    rs1384268991,2
    C,F--93676268(+) TGTCAT/CGGAAG 3 /H syn1 int11Minor allele frequency- C:0.00NA 4550
    rs3714962591,2
    C--93676414(+) AATGA-/AATTA 
     ATTAATT
    AATTT
    2 -- int10--------
    rs2000069691,2
    C--93676415(+) AATGA-/ATTTATTT
    ATTTATTT
    /T
    TTAAT
    2 -- int10--------
    rs118515721,2
    C,F,A,H--93676418(+) AAATTA/TATTAA 2 -- int13Minor allele frequency- T:0.26WA NA EA 358

    HapMap Linkage Disequilibrium report for UBR7 (93673401 - 93695561 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UBR7:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902205CNV Loss21882294
    nsv516487CNV Loss19592680

    Human Gene Mutation Database (HGMD): UBR7
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBR7
    DNA2.0 Custom Variant and Variant Library Synthesis for UBR7

    (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.)
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    OMIM gene information: 613816    OMIM disorders: --

    2 diseases for UBR7:    
    About MalaCards
    ataxia    malaria


    UBR7 for disorders           About GeneDecksing


    Export disorders for UBR7 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 articles for UBR7 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with UBR7)
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    1. Synthetic heterovalent inhibitors targeting recognition E3 components of the N-end rule pathway. (PubMed id 18162545)1, 3 Lee M.J....Kwon Y.T. (Proc. Natl. Acad. Sci. U.S.A. 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. 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. (Nat. Cell Biol. 2012)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. A high-throughput approach for measuring temporal changes in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (Nat. Methods 2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55148 HGNC: 20344 AceView: C14orf130 Ensembl:ENSG00000012963 euGenes: HUgn55148
    ECgene: UBR7 H-InvDB: UBR7

    (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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    NameDescription
    PharmGKB entry for UBR7 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UBR7 gene:
    Search GeneIP for patents involving UBR7

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



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