Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

UBR1 Gene

protein-coding   GIFtS: 56
GCID: GC15M043235

ubiquitin protein ligase E3 component n-recognin 1

 Explore 15 diseases affiliated with
UBR1 via our new
 Human Malady Compendium 
Biological research products
for UBR1
    

(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 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-11     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:
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)

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


(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_000015.9  NC_018926.1  NT_010194.17  
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 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IWV7

  • UBR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_777576.1  
    ENSEMBL proteins: 
     ENSP00000290650   ENSP00000457573   ENSP00000457879   ENSP00000456327   ENSP00000455759  
     ENSP00000456502   ENSP00000454962   ENSP00000371612  
    Reactome Protein details: Q8IWV7
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: UBR1
    OriGene Custom Protein Services for UBR1 
    GenScript Custom Purified and Recombinant Proteins Services for UBR1
    Novus Biologicals UBR1 Protein
    Novus Biologicals UBR1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    UBR1 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 UBR1 
    GenScript Custom Superior Antibodies Services for UBR1
    Novus Biologicals UBR1 Antibodies
    Search for Antibodies for UBR1 at Abcam  
    Uscn Antibodies for UBR1
    Search ThermoFisher Antibodies for UBR1

    Assay Products for UBR1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for UBR1
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for UBR1


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

    UBR1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    (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: 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

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: UBR1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UBR1
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate UBR1 (see all 54):
    hsa-miR-194* hsa-miR-142-5p hsa-miR-300 hsa-miR-128 hsa-miR-488 hsa-miR-219-5p hsa-miR-507 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidUBR1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UBR1 (see all 3)
    OriGene shRNA RFP: UBR1
    OriGene siRNA: UBR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UBR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for UBR1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBR1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBR1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: UBR1 (NM_174916)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for UBR1
    Search LifeMap BioReagents cell lines for UBR1

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR1

    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


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

    Animal Models:
         Mouse knock-out Ubr1tm1Avar for UBR1
         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


    (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
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation1.00
    Polyubiquitination of substrate0.75
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System1.00
    Adaptive Immune System0.59
    3Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis1.00
    4SMAD Signaling Network
    SMAD Signaling Network1.00
    5PEDF Induced Signaling
    RAR-Gamma-RXR-Alpha Degradation0.54

    Pathway sources
    See GeneCards unified pathways
    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

    5        Reactome Pathways for UBR1
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    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:0016567protein ubiquitination ----
    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, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for 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 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 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
    Products:
         
    OriGene 3'-UTR Clone: UBR1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat UBR1
    8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate UBR1 (see all 54):
    hsa-miR-194* hsa-miR-142-5p hsa-miR-300 hsa-miR-128 hsa-miR-488 hsa-miR-219-5p hsa-miR-507 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidUBR1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UBR1 (see all 3)
    OriGene shRNA RFP: UBR1
    OriGene siRNA: UBR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UBR1
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBR1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBR1
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: UBR1 (NM_174916)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for UBR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR1 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBR1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UBR1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBR1

    Additional cDNA 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):

    BM718298 BQ002107 BU618516 CA417209 AK054969 AI051367 AL597596 AA300527 
    BX103491 BU741892 AA946678 CA440743 CR607973 C01573 AI928868 BX119443 
    BX281065 BM508126 AI582335 CA313244 BU623096 AI399787 AI694170 CB159971 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATGAAGTTAT

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

    About this image
    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

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBR1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat UBR1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBR1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBR1
    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 eukaryotes.

    Orthologs for UBR1 gene from 9/21 species (see all 21)    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 --
    --
    --
    77(a)
    72(a)
    many → 1
    many → 1
    1(39461276-39486919)
    1(39489008-39522232)
    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
    21(a)
    1 → many
    I(3807460-3816799)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PRT66
    proteolysis 6
    15(a)
    1 → many
    5(474279-482783)
    rice
    (Oryza sativa)
    Liliopsida --
    zinc finger protein, putative, expressed
    16(a)
    1 → many
    1(2598850-2611865)


    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, 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

    10/2226 NCBI SNPs in UBR1 are shown (see all 2226    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797517091,2
    F,--20083723(+) TGTTAT/AGAAAT 1 -- ut311Minor allele frequency- A:0.04EA 120
    rs177760901,2
    C,F,H,--20084002(+) NNNNAA/GTGAGA 1 -- ut3116Minor allele frequency- G:0.02NA NS EA 1804
    rs798267301,2
    --20085046(+) GTTTAA/CATCTG 1 -- ut310--------
    rs71787321,2
    C,F,H,--20085123(+) TTTTAC/AATCAG 1 -- ut3114Minor allele frequency- A:0.10NA NS EA WA 1354
    rs606832571,2
    --20085393(+) AATTTG/TTGGTG 1 -- ut311Minor allele frequency- T:0.01EA 120
    rs620206981,2
    C,F,--20085832(+) CTGGAC/TATGGA 1 -- ut313Minor allele frequency- T:0.07NA 124
    rs788247681,2
    F,--20086488(+) AAATTA/GTATTT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs792051471,2
    C,--20087310(+) CTATAA/TGTACT 1 -- int10--------
    rs71761231,2
    C,--20088337(+) gggacA/Gtttag 1 -- int10--------
    rs796540271,2
    --20091065(+) CCAATA/GTCTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for UBR1 (43235095 - 43398311 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UBR1
         1 CNV: 49556
    Human Gene Mutation Database (HGMD): UBR1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UBR1 for disorders           About GeneDecksing

    OMIM gene information: 605981   
    OMIM disorders: 243800  
    UniProtKB/Swiss-Prot: UBR1_HUMAN, Q8IWV7
  • Defects in UBR1 are a cause of 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

    15 diseases for UBR1:    About MalaCards
    johanson-blizzard syndrome    limb-girdle muscular dystrophy    congenital dyserythropoietic anemia type i    congenital dyserythropoietic anemia
    dyserythropoietic anemia    imperforate anus    vitelliform macular dystrophy    exocrine pancreatic insufficiency
    rapadilino syndrome    macular dystrophy    muscular dystrophy    intellectual disability
    anemia    cardiomyopathy    pancreatitis

    5 diseases from the University of Copenhagen DISEASES database for UBR1:
    Johanson-Blizzard syndrome     Exocrine pancreatic insufficiency     Intellectual disability     Rapadilino syndrome
    Imperforate anus
    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 48):
    (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. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. 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)
    6. 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)
    7. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (PubMed id 12434312)1, 2 Dgany O.... Tamary H. (2002)
    8. 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)
    9. 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)
    10. Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing. (PubMed id 19058315)1, 9 Alkhouri N....Zenker M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for UBR1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for UBR1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for UBR1  
     OriGene Protein Over-expression Lysate for UBR1   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for UBR1   OriGene 3'-UTR Clone for UBR1  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for UBR1   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for UBR1  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for UBR1   OriGene Custom Protein Services for UBR1  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat UBR1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UBR1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UBR1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat UBR1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UBR1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat UBR1
     GenScript Custom Purified and Recombinant Proteins Services for UBR1 GenScript cDNA clones with any tag delivered in your preferred vector for UBR1
     GenScript Custom Assay Services for UBR1 GenScript Custom Superior Antibodies Services for UBR1
     GenScript Custom overexpressing Cell Line Services for UBR1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in UBR1 promoter
     Search Chromatin IP Primers for UBR1
     RT2 qPCR Primer Assay in human, mouse, rat UBR1
     GNC Network for UBR1
     SABiosciences PCR Arrays including human, mouse, rat UBR1
     Search Tocris compounds for UBR1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     UBR1 antibodies
     UBR1 proteins
     UBR1 lysates
     Search for Antibodies for UBR1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for UBR1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     UBR1 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for UBR1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBR1
     SwitchGear 3'UTR luciferase reporter plasmids for UBR1
     SwitchGear Promoter luciferase reporter plasmids for UBR1
     Search ThermoFisher Antibodies for UBR1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat UBR1
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      UBR1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4