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

UBR5 Gene

protein-coding   GIFtS: 61
GCID: GC08M103265

ubiquitin protein ligase E3 component n-recognin 5

(Previous names: E3 ubiquitin protein ligase, HECT domain containing, 1...)
(Previous symbol: EDD1)
 Explore 8 diseases affiliated with
UBR5 via our new
 Human Malady Compendium 
Biological research products
for UBR5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ubiquitin Protein Ligase E3 Component N-Recognin 51 2     E3 Ubiquitin-Protein Ligase, HECT Domain-Containing 12 3
EDD11 2 3 5     HHYD1
HYD1 2 3 5     E3 Identified By Differential Display2
EDD1 2 3     E3 Ubiquitin-Protein Ligase UBR52
KIAA08961 3 5     Progestin Induced Protein2
DD51 2     Ubiquitin-Protein Ligase2
E3 Ubiquitin Protein Ligase, HECT Domain Containing, 11 2     EC 6.3.2.-3
Hyperplastic Discs Protein Homolog2 3     EC 6.3.28
Progestin-Induced Protein2 3     

External Ids:    HGNC: 168061   Entrez Gene: 513662   Ensembl: ENSG000001045177   OMIM: 6084135   UniProtKB: O950713   

Export aliases for UBR5 gene to outside databases

Previous GC identifers: GC08M103336 GC08M098464


(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 UBR5:
This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family.
The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated
proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene
potentially has a role in regulation of cell proliferation or differentiation. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
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). Involved in maturation and/or transcriptional regulation of
mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor
suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an
essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage
response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of
'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of
ubiquitinated chromatin at damaged chromosomes

Gene Wiki entry for UBR5


(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_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBR5 gene promoter:
         CUTL1   POU6F1 (c2)   GATA-1   CREB   N-Myc   IRF-2   FOXO4   deltaCREB   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): UBR5 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBR5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBR5


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

Entrez Gene cytogenetic band: 8q22   Ensembl cytogenetic band:  8q22.3   HGNC cytogenetic band: 8q22

UBR5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBR5 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M103265:  view genomic region     (about GC identifiers)

Start:
103,264,501 bp from pter      End:
103,425,069 bp from pter
Size:
160,569 bases      Orientation:
minus strand

(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: UBR5_HUMAN, O95071 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase UBR5  
Size: 2799 amino acids; 309352 Da
Subunit: Binds TOPBP1. Associates with CDK9 and TFIIS/TCEA1 and forms a transcription regulatory complex made of CDK9,
RNAP II, UBR5 and TFIIS/TCEA1 that can stimulate target gene transcription (e.g. gamma fibrinogen/FGG) by recruiting
their promoters. Associates with the E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and VPRBP proteins (EDVP
complex). Interacts directly with DYRK2
Subcellular location: Nucleus
Miscellaneous: A cysteine residue is required for ubiquitin-thioester formation
Sequence caution: Sequence=BAA74919.3; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for UBR5:
1I2T (3D)        2QHO (3D)        3PT3 (3D)    
Secondary accessions: B2RP24 O94970 Q9NPL3

Explore the universe of human proteins at neXtProt for UBR5: NX_O95071

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95071

  • 4/6 DME Specific Peptides for UBR5 (O95071) (see all 6)
     PHLLQPN  PGKRGFYTPR  ERQDLVYFWT  LPASEEGFQP 

    UBR5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_056986.2  
    ENSEMBL proteins: 
     ENSP00000429084   ENSP00000220959   ENSP00000428693   ENSP00000427819   ENSP00000428062  
     ENSP00000429127   ENSP00000428138  

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    Uscn Proteins for UBR5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005625soluble fraction ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IBA--


    UBR5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for UBR5


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

    UBR5 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR002004 PABP_HYD
     IPR003126 Znf_N-recognin
     IPR013993 Znf_N-recognin_met
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR024725 E3_UbLigase_EDD_UBA

    Graphical View of Domain Structure for InterPro Entry O95071

    ProtoNet protein and cluster: O95071

    3 Blocks protein families:
    IPB000449 Ubiquitin-associated domain
    IPB000569 HECT domain (Ubiquitin-protein ligase)
    IPB003126 Zn-finger (putative)


    UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 1 PABC domain
    Similarity: Contains 1 UBR-type zinc finger


    (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: UBR5_HUMAN, O95071
    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). Involved in maturation and/or transcriptional regulation of
    mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor
    suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an
    essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage
    response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of
    'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of
    ubiquitinated chromatin at damaged chromosomes

    Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

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    SwitchGear 3'UTR luciferase reporter plasmidUBR5 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004842ubiquitin-protein ligase activity TAS10030672
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0016881acid-amino acid ligase activity ----


    UBR5 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for UBR5:
     Decreased POU5F1-GFP protein e  Decreased cilium length after  

    Animal Models:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ubr5):
     cardiovascular system  cellular  craniofacial  embryogenesis  growth/size 
     homeostasis/metabolism  mortality/aging  nervous system 

    UBR5 for phenotypes           About GeneDecksing


    (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
    1Protein Stability
    Protein Stability1.00
    2Tryptophan metabolism
    Tryptophan metabolism1.00
    3Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for UBR5
        Protein Stability

    1 BioSystems Pathway for UBR5 
        Tryptophan metabolism


    1         Kegg Pathway  (Kegg details for UBR5):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
    Pathway: Protein modification; protein ubiquitination


    UBR5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBR5

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

    5/67 Interacting proteins for UBR5 (O950712, 3 ENSP000002209594) via UniProtKB, MINT, STRING, and/or I2D (see all 67)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157962, 3MINT-61593 I2D: score=3 
    PAIP2Q9BPZ32, 3, ENSP000002651924MINT-1899264 MINT-1899175 MINT-1899242 MINT-1899220 MINT-1899195 I2D: score=3 STRING: ENSP00000265192
    CIB1Q998283, ENSP000003338734I2D: score=3 STRING: ENSP00000333873
    MAPK1P284823, ENSP000002158324I2D: score=3 STRING: ENSP00000215832
    KPNA1P522943, ENSP000003437014I2D: score=2 STRING: ENSP00000343701
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA--
    GO:0006281DNA repair IEA--
    GO:0006464cellular protein modification process ----
    GO:0006511ubiquitin-dependent protein catabolic process TAS10030672
    GO:0006974response to DNA damage stimulus IMP--


    UBR5 for ontologies           About GeneDecksing



    (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

    UBR5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UBR5

    4 HMDB Compounds for UBR5    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    1 Novoseek chemical compound relationship for UBR5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 44.2 2 11287654 (1), 16554297 (1)

    Search CenterWatch for drugs/clinical trials and news about UBR5 

    (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 UBR5 gene: 
    NM_015902.5  

    Unigene Cluster for UBR5:

    Ubiquitin protein ligase E3 component n-recognin 5
    Hs.492445  [show with all ESTs]
    Unigene Representative Sequence: NM_015902
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000522784(uc003ykq.3) ENST00000520539(uc003ykr.2 uc003yks.2)
    ENST00000220959 ENST00000517465 ENST00000518205 ENST00000521922 ENST00000521767
    ENST00000521312 ENST00000521566 ENST00000519528 ENST00000520898 ENST00000519365
    ENST00000518145 ENST00000522327

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    8/61 QIAGEN miScript miRNA Assays for microRNAs that regulate UBR5 (see all 61):
    hsa-miR-140-5p hsa-miR-3607-3p hsa-miR-361-5p hsa-miR-3938 hsa-miR-642a hsa-miR-300 hsa-miR-106a hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidUBR5 3' UTR sequence
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    Additional cDNA sequence: 

    AB020703.3 AF006010.2 AF090904.1 AK002172.1 AK095151.1 AK124995.1 AL833555.1 BC037843.1 
    BC044598.1 BC053948.1 BC137234.1 BC151231.1 U95000.1 

    24/25 DOTS entries (see all 25):

    DT.443859  DT.95311540  DT.95236792  DT.100686108  DT.120644164  DT.100791494  DT.100791502  DT.100791504 
    DT.439387  DT.120644153  DT.95311536  DT.100667537  DT.433203  DT.91764762  DT.99959733  DT.120644174 
    DT.120644239  DT.75101365  DT.91764758  DT.91832311  DT.95235827  DT.95251056  DT.40193997  DT.95263369 

    24/343 AceView cDNA sequences (see all 343):

    BP364256 AW276321 BM827032 AA884211 NM_015902 AI744543 BU674324 BX478158 
    BG678652 BQ716376 AA055867 BQ772112 BF968973 AA449255 BG286817 CB145606 
    W95811 BP346014 BU195000 BU740706 F07961 AK002172 BF724803 BQ017048 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for UBR5 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                -                                                                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 52a · 52b · 52c ^ 53 ^ 54a · 54b ^ 55 ^ 56 ^ 57 ^ 58 ^ 59 ^ 60a · 60b · 60c
    SP1:  -     -     -                                                                     
    SP2:  -     -     -                                                                     
    SP3:                                                                                    
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for UBR5

    (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

    UBR5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See UBR5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBR5

    SOURCE GeneReport for Unigene cluster: Hs.492445

    UniProtKB/Swiss-Prot: UBR5_HUMAN, O95071
    Tissue specificity: Widely expressed. Most abundant in testis and expressed at high levels in brain, pituitary and
    kidney

        SABiosciences Expression via Pathway-Focused PCR Array including UBR5: 
              Ubiquitin Ligases in human mouse rat

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    (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 eukaryotes.

    Orthologs for UBR5 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves UBR51 ubiquitin protein ligase E3 component n-recognin 5 85.18(n)
    97.91(a)
      420252  XM_003640847.1  XP_003640895.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBR56
    TRIP126
    --
    97(a)
    3(a)
    1 ↔ 1
    possible ortholog
    4(13958200-14005310)
    3(22445613-22490489)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.86062 Xenopus laevis transcribed sequence with strong similarity more 80.48(n)    CA793015.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa16c122 Transcribed sequence with strong similarity to protein more 76.41(n)    CK026475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta hyd1 hyperplastic discs 50.49(n)
    46.78(a)
      41181  NM_079572.3  NP_524296.2 
    worm
    (Caenorhabditis elegans)
    Secernentea F36A2.136
    --
    23(a)
    1 ↔ 1
    I(8828037-8838712)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UPL56
    E3 ubiquitin-protein ligase UPL5
    9(a)
    1 ↔ 1
    4(7445362-7449086)
    rice
    (Oryza sativa)
    Liliopsida --
    HECT-domain domain containing protein, expressed
    9(a)
    1 ↔ 1
    9(18686739-18693227)


    ENSEMBL Gene Tree for UBR5 (if available)
    TreeFam Gene Tree for UBR5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBR5 gene
    HUWE12  
    4 SIMAP similar genes for UBR5 using alignment to 9 protein entries:     UBR5_HUMAN (see all proteins):
    PABPC1    HACE1    KIAA0317    FBXO11

    UBR5 for paralogs           About GeneDecksing



    (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

    10/2657 NCBI SNPs in UBR5 are shown (see all 2657    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1144354821,2
    F,--103264068(+) TCCTGG/ACCTCC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1815851201,2
    --103264092(+) TGAATC/GAGAAA 1 -- ds50010--------
    rs1173350221,2
    F,--103264138(+) ATTAAC/TAAACT 1 -- ds50011Minor allele frequency- T:0.05NA 120
    rs732833671,2
    C,--103264143(+) CAAACT/GTTACA 1 -- ds50012Minor allele frequency- G:0.29WA 120
    rs1857977871,2
    --103264165(+) CAACAC/TACAGA 1 -- ds50010--------
    rs1422593871,2
    --103264166(+) AACATA/GCAGAA 1 -- ds50010--------
    rs1910078091,2
    --103264182(+) GAAACC/TACTGC 1 -- ds50010--------
    rs1832322961,2
    --103264194(+) TCAAGA/GGATTA 1 -- ds50010--------
    rs1512526981,2
    --103264291(+) CAGCTA/GCTAAA 1 -- ds50010--------
    rs1880386111,2
    --103264517(+) TGTCTG/TTATTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for UBR5 (103264501 - 103425069 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for UBR5
         1 CNV: 7659
         1 Indel: 65214
    Human Gene Mutation Database (HGMD): UBR5

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UBR5 for disorders           About GeneDecksing

    OMIM gene information: 608413    OMIM disorders: --

    8 diseases for UBR5:    About MalaCards
    dna topoisomerase ii    aortic valve insufficiency    acneiform dermatitis    cerebrovascular accident
    epithelial ovarian cancer    echinococcosis    ovarian cancer    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for UBR5:
    Echinococcosis     Acneiform dermatitis     Eating disorder

    2 Novoseek disease relationships for UBR5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 17.7 4 10030672 (1), 12902990 (1)
    cancer 0 8 12902990 (3), 10030672 (1)


    Export disorders for UBR5 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 articles for UBR5 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with UBR5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human HECT family protein with homology to the Drosophila tumor suppressor gene hyperplastic discs. (PubMed id 10030672)1, 2, 3, 9 Callaghan M.J.... Watts C.K.W. (1998)
    2. X-ray structure of the human hyperplastic discs protein: an ortholog of the C-terminal domain of poly(A)-binding protein. (PubMed id 11287654)1, 2, 9 Deo R.C.... Burley S.K. (2001)
    3. TRIP12 and UBR5 Suppress Spreading of Chromatin Ubiquitylation at Damaged Chromosomes. (PubMed id 22884692)1, 2 Gudjonsson T.... Lukas C. (2012)
    4. Acetylation regulates gluconeogenesis by promoting PE PCK1 degradation via recruiting the UBR5 ubiquitin ligase. (PubMed id 21726808)1, 2 Jiang W....Zhao S. (2011)
    5. Transcription factor IIS cooperates with the E3 ligas e UBR5 to ubiquitinate the CDK9 subunit of the positive transcription elongatio n factor B. (PubMed id 21127351)1, 2 Cojocaru M....Coulombe B. (2011)
    6. Protein kinase DYRK2 is a scaffold that facilitates assembly of an E3 ligase. (PubMed id 19287380)1, 2 Maddika S. and Chen J. (2009)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    8. A family of mammalian E3 ubiquitin ligases that contain the UBR box motif and recognize N-degrons. (PubMed id 16055722)1, 3 Tasaki T....Kwon Y.T. (2005)
    9. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    10. Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response. (PubMed id 11714696)1, 2 Honda Y.... Nakao M. (2002)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51366 HGNC: 16806 AceView: EDD Ensembl:ENSG00000104517 euGenes: HUgn51366
    ECgene: UBR5 Kegg: 51366 H-InvDB: UBR5

    (According to HUGE)
    About This Section
    HUGE: KIAA0896

    (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 UBR5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for UBR5 gene:
    Search GeneIP for patents involving UBR5

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



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