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

UBR5 Gene

protein-coding   GIFtS: 62
GCID: GC08M103265

Ubiquitin Protein Ligase E3 Component N-Recognin 5

(Previous names: E3 ubiquitin protein ligase, HECT domain containing, 1)
(Previous symbol: EDD1)
  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
Ubiquitin Protein Ligase E3 Component N-Recognin 51 2     DD52
EDD11 2 3 5     E3 Identified By Differential Display2
HYD2 3 5     E3 Ubiquitin-Protein Ligase UBR52
E3 Ubiquitin Protein Ligase, HECT Domain Containing, 11 2     Progestin Induced Protein2
Hyperplastic Discs Protein Homolog2 3     Ubiquitin-Protein Ligase2
Progestin-Induced Protein2 3     EC 6.3.2.-3
EDD2 3     hHYD3
E3 Ubiquitin-Protein Ligase, HECT Domain-Containing 12 3     EC 6.3.28
KIAA08963 5     

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 Gene:
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)

GeneCards Summary for UBR5 Gene: 
UBR5 (ubiquitin protein ligase E3 component n-recognin 5) is a protein-coding gene. Diseases associated with UBR5 include acneiform dermatitis, and aortic valve insufficiency, and among its related super-pathways are Tryptophan metabolism and Antigen processing: Ubiquitination & Proteasome degradation. GO annotations related to this gene include ubiquitin binding and RNA binding. An important paralog of this gene is HACE1.

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 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_000008.10  NT_008046.16  NC_018919.2  
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 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: 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

Explore proteomics data for UBR5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBR5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_056986.2  NP_001269802.1  

    ENSEMBL proteins: 
     ENSP00000429084   ENSP00000220959   ENSP00000428693   ENSP00000427819   ENSP00000428062  
     ENSP00000429127   ENSP00000428138  

    Human Recombinant Protein Products for UBR5: 
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    Novus Biologicals UBR5 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBR5 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA12011095
    GO:0005737cytoplasm IBA--

    UBR5 for ontologies           About GeneDecksing



    UBR5 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for UBR5


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

    5/6 InterPro protein domains (see all 6):
     IPR002004 PABP_HYD
     IPR003126 Znf_N-recognin
     IPR013993 Znf_N-recognin_met
     IPR009091 RCC1/BLIP-II
     IPR024725 E3_UbLigase_EDD_UBA

    Graphical View of Domain Structure for InterPro Entry O95071

    ProtoNet protein and cluster: O95071

    3 Blocks protein domains:
    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


    UBR5 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,
    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: 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

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0004842ubiquitin-protein ligase activity TAS10030672
    GO:0005515protein binding IPI12011095
    GO:0008270zinc ion binding IEA--
    GO:0034450ubiquitin-ubiquitin ligase activity IDA--
         
    UBR5 for ontologies           About GeneDecksing


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

         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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBR5 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBR5 
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    miRNA
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    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
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR5


    (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 UBR5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Tryptophan metabolism
    Tryptophan metabolism0.46
    2Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36
    3Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA--
    GO:0006281DNA repair IEA--
    GO:0006511ubiquitin-dependent protein catabolic process TAS10030672
    GO:0006974response to DNA damage stimulus IMP--
    GO:0008283cell proliferation TAS10030672

    UBR5 for ontologies           About GeneDecksing



    (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

    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 inferred 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 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 UBR5 gene (2 alternative transcripts): 
    NM_015902.5  NM_001282873.1  

    Unigene Cluster for UBR5:

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

    miRNA
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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
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    Additional mRNA 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 

    24/26 DOTS entries (see all 26):

    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.120644231  DT.433203  DT.91764762  DT.99959733 
    DT.120644174  DT.120644239  DT.75101365  DT.91764758  DT.91832311  DT.95235827  DT.95251056  DT.40193997 

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

    BE349422 AB020703 AA884211 BX478158 BM127132 BX480764 AA055867 AK002172 
    NM_015902 BP364256 BC044598 AA582316 Z41033 F07961 BG678652 AL707922 
    AL705376 BM976309 AI566211 BU742338 AI632592 BQ772112 AW276321 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 <intensity>2/3
    CGAP TAG: --
    UBR5 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 animals and fungi.

    Orthologs for UBR5 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubr51 , 5 ubiquitin protein ligase E3 component n-recognin 51, 5 90.52(n)1
    98.25(a)1
      15 (15.10 cM)5
    707901  NM_001081359.21  NP_001074828.21 
     379673285 
    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
    Uncharacterized protein
    97(a)
    1 ↔ 1
    4(13958200-14010086)
    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
    Protein F36A2.13
    24(a)
    1 ↔ 1
    I(8828044-8838719)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TOM16
    E3 ubiquitin ligase of the hect-domain class; has ...
    10(a)
    1 → many
    IV(1369790-1379596)


    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
    HACE12  AREL12  
    5 SIMAP similar genes for UBR5 using alignment to 9 protein entries:     UBR5_HUMAN (see all proteins):
    RLIM    PABPC1    HACE1    AREL1    FBXO11

    UBR5 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) 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

    10/3210 SNPs in UBR5 are shown (see all 3210)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851085101,2
    Cuntested1103354860(+) AAAACA/GGATTC 2 S syn10--------
    rs105489731,2
    C--98591157(+) gactc-/A/AA  
            
    aaaaa
    1 -- int11NA 2
    rs1144354821,2
    C,F--103264068(+) TCCTGG/ACCTCC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1815851201,2
    C--103264092(+) TGAATC/GAGAAA 1 -- ds50010--------
    rs1173350221,2
    F--103264138(+) ATTAAC/TAAACT 1 -- ds50011Minor allele frequency- T:0.05NA 120
    rs732833671,2
    C,F--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--------

    HapMap Linkage Disequilibrium report for UBR5 (103264501 - 103425069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for UBR5:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1299e199CNV Deletion23128226
    nsv6335CNV Insertion18451855
    esv25807CNV Loss19812545
    nsv528486CNV Loss19592680
    esv33118CNV Loss17666407
    nsv891244CNV Gain21882294
    dgv7840n71CNV Gain21882294
    nsv831412CNV Gain17160897


    Human Gene Mutation Database (HGMD): UBR5
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608413    OMIM disorders: --

    9 diseases for UBR5:    About MalaCards
    acneiform dermatitis    aortic valve insufficiency    echinococcosis    eating disorder
    cerebrovascular accident    colon adenocarcinoma    dermatitis    ovarian cancer
    adenocarcinoma

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

    UBR5 for disorders           About GeneDecksing

    2 Novoseek inferred 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)

    Genetic Association Database (GAD): UBR5

    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 94):
    (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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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