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

UBR1 Gene

protein-coding   GIFtS: 59
GCID: GC15M043235

Ubiquitin Protein Ligase E3 Component N-Recognin 1

  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 11 2     E3 Ubiquitin-Protein Ligase UBR12
Ubiquitin-Protein Ligase E3-Alpha-12 3     E3a Ligase2
Ubiquitin-Protein Ligase E3-Alpha-I2 3     Ubiquitin Ligase E3 Alpha-I2
N-recognin-12 3     Ubiquitin-Protein Ligase E3-Alpha2
JBS2 5     EC 6.3.2.-3

External Ids:    HGNC: 168081   Entrez Gene: 1971312   Ensembl: ENSG000001594597   OMIM: 6059815   UniProtKB: Q8IWV73   

Export aliases for UBR1 gene to outside databases

Previous GC identifers: GC15M038676 GC15M036130 GC15M040814 GC15M040953 GC15M041024 GC15M020083


(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 UBR1 Gene:
The N-end rule pathway is one proteolytic pathway of the ubiquitin system. The recognition component of this
pathway, encoded by this gene, binds to a destabilizing N-terminal residue of a substrate protein and
participates in the formation of a substrate-linked multiubiquitin chain. This leads to the eventual degradation
of the substrate protein. The protein described in this record has a RING-type zinc finger and a UBR-type zinc
finger. Mutations in this gene have been associated with Johanson-Blizzard syndrome. (provided by RefSeq, Jul
2008)

GeneCards Summary for UBR1 Gene: 
UBR1 (ubiquitin protein ligase E3 component n-recognin 1) is a protein-coding gene. Diseases associated with UBR1 include johanson-blizzard syndrome, and urethral obstruction sequence, and among its related super-pathways are Class I MHC mediated antigen processing & presentation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and leucine binding. An important paralog of this gene is UBR2.

UniProtKB/Swiss-Prot: UBR1_HUMAN, Q8IWV7
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. May be involved in pancreatic homeostasis. Binds leucine and is
a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth

Gene Wiki entry for UBR1 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UBR1 gene promoter:
         Pbx1a   AP-1   ATF-2   NF-kappaB   YY1   POU2F1   POU2F1a   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUBR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for UBR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBR1


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

Entrez Gene cytogenetic band: 15q13   Ensembl cytogenetic band:  15q15.2   HGNC cytogenetic band: 15q13

UBR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBR1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M043235:  view genomic region     (about GC identifiers)

Start:
43,235,095 bp from pter      End:
43,398,311 bp from pter
Size:
163,217 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: UBR1_HUMAN, Q8IWV7 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase UBR1  
Size: 1749 amino acids; 200211 Da
Subunit: Interacts with RECQL4
Subcellular location: Cytoplasm, cytosol
Developmental stage: Expressed in fetal pancreas
Sequence caution: Sequence=BAB55380.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for UBR1:
3NY1 (3D)    
Secondary accessions: O60708 O75492 Q14D45 Q68DN9 Q8IWY6 Q96JY4
Alternative splicing: 2 isoforms:  Q8IWV7-1   Q8IWV7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBR1: NX_Q8IWV7

Explore proteomics data for UBR1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IWV7

  • UBR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UBR1 Protein Expression
    REFSEQ proteins: NP_777576.1  
    ENSEMBL proteins: 
     ENSP00000290650   ENSP00000457573   ENSP00000457879   ENSP00000456327   ENSP00000455759  
     ENSP00000456502   ENSP00000454962   ENSP00000371612  
    Reactome Protein details: Q8IWV7
    Human Recombinant Protein Products for UBR1: 
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    Novus Biologicals UBR1 Protein
    Novus Biologicals UBR1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for UBR1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex IEA--
    GO:0000502proteasome complex IEA--
    GO:0005829cytosol IEA--

    UBR1 for ontologies           About GeneDecksing



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    (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 InterPro protein domains:
     IPR014719 Ribosomal_L7/12_C/ClpS-like
     IPR003126 Znf_N-recognin
     IPR003769 ClpS_core
     IPR013993 Znf_N-recognin_met
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q8IWV7

    ProtoNet protein and cluster: Q8IWV7

    3 Blocks protein domains:
    IPB000307 Ribosomal protein S16
    IPB003126 Zn-finger (putative)
    IPB003769 Protein of unknown function DUF174


    UniProtKB/Swiss-Prot: UBR1_HUMAN, Q8IWV7
    Domain: The RING-H2 zinc finger is an atypical RING finger with a His ligand in place of the fourth Cys of the
    classical motif
    Similarity: Belongs to the UBR1 family
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 UBR-type zinc finger


    UBR1 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: UBR1_HUMAN, Q8IWV7
    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. May be involved in pancreatic homeostasis. Binds leucine and is
    a negative regulator of the leucine-mTOR signaling pathway, thereby controlling cell growth

         Enzyme Number (IUBMB): EC 6.3.2.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0070728leucine binding IDA--
         
    UBR1 for ontologies           About GeneDecksing


    Phenotypes:
         4 GenomeRNAi human phenotypes for UBR1:
     G0/1 arrest  Increased G1 DNA content  Increased number of mitotic ce  Upregulation of Wnt/beta-caten 

         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ubr1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  homeostasis/metabolism  mortality/aging 
     muscle  nervous system 

    UBR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ubr1tm1Avar for UBR1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for UBR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for UBR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UBR1 
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    SwitchGear 3'UTR luciferase reporter plasmidUBR1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR1


    (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 UBR1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3PEDF Induced Signaling
    RAR-Gamma-RXR-Alpha Degradation0.62
    4Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    5SMAD Signaling Network
    SMAD Signaling Network

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for UBR1
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis
    RAR-Gamma-RXR-Alpha Degradation

    4        Reactome Pathways for UBR1
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    UniProtKB/Swiss-Prot: UBR1_HUMAN, Q8IWV7
    Pathway: Protein modification; protein ubiquitination


    UBR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UBR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/123 Interacting proteins for UBR1 (Q8IWV72, 3 ENSP000002906504) via UniProtKB, MINT, STRING, and/or I2D (see all 123)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJB11Q9UBS42, 3MINT-8254320 MINT-65691 I2D: score=5 
    UBE2BP631462, 3, ENSP000002653394MINT-63984 I2D: score=4 STRING: ENSP00000265339
    ANXA3P124292, 3MINT-63462 I2D: score=5 
    ARL15Q9NXU52, 3MINT-64618 I2D: score=5 
    ARL3P364052, 3MINT-63697 I2D: score=5 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0030163protein catabolic process ----
    GO:0032007negative regulation of TOR signaling cascade IMP--
    GO:0071233cellular response to leucine IDA--

    UBR1 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UBR1

    4 HMDB Compounds for UBR1    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--

    Search CenterWatch for drugs/clinical trials and news about UBR1

    (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 UBR1 gene: 
    NM_174916.2  

    Unigene Cluster for UBR1:

    Ubiquitin protein ligase E3 component n-recognin 1
    Hs.591121  [show with all ESTs]
    Unigene Representative Sequence: NM_174916
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290650(uc001zqq.3) ENST00000562173 ENST00000566493 ENST00000568782
    ENST00000546274(uc010udk.1) ENST00000569243 ENST00000564540 ENST00000569066
    ENST00000569971 ENST00000563239 ENST00000569337 ENST00000382177
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidUBR1 3' UTR sequence
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    Additional mRNA sequence: 

    AF061556.1 AF525401.1 AK027803.1 AK054969.1 AK056441.1 AK127478.1 AK292516.1 AK302489.1 
    AY061886.1 BC113505.1 BC113507.1 BX648400.1 

    11 DOTS entries:

    DT.110605  DT.95265244  DT.100015554  DT.121051298  DT.100783497  DT.75171179  DT.91746805  DT.95132882 
    DT.121051497  DT.40295353  DT.91938887 

    24/221 AceView cDNA sequences (see all 221):

    AL597596 AL557858 BF063405 AY061886 BQ942625 CB120626 BM472160 BM976310 
    NM_174916 CB129142 AI627299 AI065088 CR600242 BX400097 AI817137 AI333662 
    BU677521 AI139110 AW300740 AK027803 BX448721 AI582335 BX119443 C01573 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UBR1 expression in normal human tissues (normalized intensities)      UBR1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGAAGTTAT
    UBR1 Expression
    About this image


    UBR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             cd49a+ cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             seminal vesicle ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   

    See UBR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UBR1

    SOURCE GeneReport for Unigene cluster: Hs.591121

    UniProtKB/Swiss-Prot: UBR1_HUMAN, Q8IWV7
    Tissue specificity: Broadly expressed, with highest levels in skeletal muscle, kidney and pancreas. Present in
    acinar cells of the pancreas (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including UBR1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR1

    (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 UBR1 gene from 8/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ubr11 , 5 ubiquitin protein ligase E3 component n-recognin 11, 5 88.05(n)1
    92.57(a)1
      2 (60.37 cM)5
    222221  NM_009461.21  NP_033487.21 
     1208602695 
    chicken
    (Gallus gallus)
    Aves UBR11 ubiquitin protein ligase E3 component n-recognin 1 75.89(n)
    78.15(a)
      423242  XM_421165.3  XP_421165.2 
    lizard
    (Anolis carolinensis)
    Reptilia UBR16
    ubiquitin protein ligase E3 component n-recognin 1...
    75(a)
    1 ↔ 1
    1(39451385-39522232)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75162 Xenopus laevis transcribed sequence with moderate similarity more 75.84(n)    BG364916.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ubr11 ubiquitin protein ligase E3 component n-recognin 1 60.66(n)
    56.92(a)
      568531  XM_002665218.2  XP_002665264.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG90866
    --
    29(a)
    1 → many
    X(16850978-16862682)
    worm
    (Caenorhabditis elegans)
    Secernentea ubr-16
    E3 ubiquitin-protein ligase ubr-1
    19(a)
    1 → many
    I(3807457-3816796)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBR16
    UBR26
    E3 ubiquitin ligase (N-recognin), forms heterodime...
    Cytoplasmic ubiquitin-protein ligase (E3); require...
    12(a)
    11(a)
    many ↔ many
    many ↔ many
    VII(859901-865753)
    XII(187663-193281)


    ENSEMBL Gene Tree for UBR1 (if available)
    TreeFam Gene Tree for UBR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UBR1 gene
    UBR22  UBR32  
    1 SIMAP similar gene for UBR1 using alignment to 7 protein entries:     UBR1_HUMAN (see all proteins):
    UBR2

    UBR1 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

    10/2764 SNPs in UBR1 are shown (see all 2764)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0247424
    Johanson-Blizzard syndrome (JBS)4--see VAR_0247422 G S mis40--------
    VAR_0247414
    Johanson-Blizzard syndrome (JBS)4--see VAR_0247412 H R mis40--------
    rs71761231,2
    C--20088337(+) gggacA/Gtttag 1 -- int10--------
    rs352095611,2
    C--20090206(+) CCAGAC/-CCAGC 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs676612121,2
    C--20139615(+) TTTTT-/T/TTTT
            
    TTTTT
    1 -- int11NA 2
    rs2015261021,2
    C--20200285(+) ATAAAA/CCNNNN 1 -- int10--------
    rs361139441,2
    C--20204416(+) CTGCC-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs80293651,2
    C--20217441(+) ccgccC/Tggcag 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1396932001,2
    C--23300568(+) TCATGC/GGATTA 1 -- ds50010--------
    rs1889478791,2
    C--23300594(+) GCGCCC/TGGCCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for UBR1 (43235095 - 43398311 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for UBR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1511CNV Insertion18451855
    nsv904147CNV Loss21882294
    dgv2368n71CNV Loss21882294
    nsv904135CNV Loss21882294
    dgv2369n71CNV Loss21882294
    nsv525461CNV Loss19592680
    nsv904134CNV Gain21882294
    nsv904146CNV Gain21882294
    nsv904138CNV Gain+Loss21882294
    nsv515876CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): UBR1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UBR1
    DNA2.0 Custom Variant and Variant Library Synthesis for UBR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605981   
    OMIM disorders: 243800  
    UniProtKB/Swiss-Prot: UBR1_HUMAN, Q8IWV7
  • Johanson-Blizzard syndrome (JBS) [MIM:243800]: This disorder includes congenital exocrine pancreatic
    insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. Pancreas of
    individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 16 diseases for UBR1:    About MalaCards
    johanson-blizzard syndrome    urethral obstruction sequence    rapadilino syndrome    urethral obstruction
    congenital dyserythropoietic anemia type i    congenital dyserythropoietic anemia    vitelliform macular dystrophy    exocrine pancreatic insufficiency
    imperforate anus    limb-girdle muscular dystrophy    urethritis    anemia
    intellectual disability    muscular dystrophy    mental retardation    pancreatitis

    5 diseases from the University of Copenhagen DISEASES database for UBR1:
    Johanson-Blizzard syndrome     Exocrine pancreatic insufficiency     Intellectual disability     Rapadilino syndrome
    Imperforate anus

    UBR1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): UBR1
    Human Genome Epidemiology (HuGE) Navigator: UBR1 (2 documents)

    Export disorders for UBR1 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 UBR1 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with UBR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The mouse and human genes encoding the recognition component of the N-end rule pathway. (PubMed id 9653112)1, 2, 3 Kwon Y.T.... Varshavsky A. (1998)
    2. Lack of association of genetic variation in chromosome region 15q14-22.1 with type 2 diabetes in a Japanese population. (PubMed id 18366806)1, 4, 9 Yamaguchi Y....Itakura M. (2008)
    3. Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). (PubMed id 16311597)1, 2 Zenker M.... Reis A. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Regulation of protein catabolism by muscle-specific and cytokine- inducible ubiquitin ligase E3alpha-II during cancer cachexia. (PubMed id 15548684)1, 2 Kwak K.S.... Han H.Q. (2004)
    6. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PubMed id 15317757)1, 2 Yin J.... Wang W. (2004)
    7. 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)
    8. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (PubMed id 12434312)1, 2 Dgany O.... Tamary H. (2002)
    9. Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway. (PubMed id 20298436)2, 9 Kume K....Handa H. (2010)
    10. Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. (PubMed id 19006206)1, 9 Elting M....Cobben J.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      (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: 197131 HGNC: 16808 AceView: EPB42andUBR1andLOC390580 Ensembl:ENSG00000159459 euGenes: HUgn197131
    ECgene: UBR1 H-InvDB: UBR1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UBR1 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 UBR1 gene:
    Search GeneIP for patents involving UBR1

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



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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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