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UHRF1 Gene

protein-coding   GIFtS: 58
GCID: GC19P004910

Ubiquitin-Like With PHD And Ring Finger Domains 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin-Like With PHD And Ring Finger Domains 11 2     Np952
ICBP902 3 5     E3 Ubiquitin-Protein Ligase UHRF12
Inverted CCAAT Box-Binding Protein Of 90 KDa2 3     hNP952
Nuclear Protein 952 3     huNp952
Nuclear Zinc Finger Protein Np952 3     Nuclear Phosphoprotein 952
Transcription Factor ICBP902 3     Ubiquitin-Like, Containing PHD And RING Finger Domains, 12
Ubiquitin-Like PHD And RING Finger Domain-Containing Protein 12 3     EC 6.3.2.-3
RNF1062 3     HuNp953
hUHRF12 3     hNp953
RING Finger Protein 1062 3     Ubiquitin-Like-Containing PHD And RING Finger Domains Protein 13
NP953 5     EC 6.3.28

External Ids:    HGNC: 125561   Entrez Gene: 291282   Ensembl: ENSG000000340637   OMIM: 6079905   UniProtKB: Q96T883   

Export aliases for UHRF1 gene to outside databases

Previous GC identifers: GC19P005001 GC19P004849 GC19P004860 GC19P004861 GC19P004671


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UHRF1 Gene:
This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific
DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its expression peaks at late G1
phase and continues during G2 and M phases of the cell cycle. It plays a major role in the G1/S transition by
regulating topoisomerase IIalpha and retinoblastoma gene expression, and functions in the p53-dependent DNA
damage checkpoint. It is regarded as a hub protein for the integration of epigenetic information. This gene is
up-regulated in various cancers, and it is therefore considered to be a therapeutic target. Multiple transcript
variants encoding different isoforms have been found for this gene. A related pseudogene exists on chromosome 12.
(provided by RefSeq, Feb 2014)

GeneCards Summary for UHRF1 Gene:
UHRF1 (ubiquitin-like with PHD and ring finger domains 1) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: UHRF1_HUMAN, Q96T88
Function: Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin
modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and
recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA
replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin
modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone
H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin
proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for
this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription
possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by
mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3
ubiquitin-protein ligase activity is related to its role in chromatin in vivo. May be involved in DNA repair

Gene Wiki entry for UHRF1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the UHRF1 gene promoter:
         Egr-3   MZF-1   PPAR-gamma1   AML1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): UHRF1 promoter sequence
   Search Chromatin IP Primers for UHRF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UHRF1


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

UHRF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UHRF1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P004910:  view genomic region     (about GC identifiers)

Start:
4,903,092 bp from pter      End:
4,962,165 bp from pter
Size:
59,074 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UHRF1_HUMAN, Q96T88 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase UHRF1  
Size: 793 amino acids; 89814 Da
Subunit: Interacts with DNMT3A and DNMT3B (By similarity). Interacts with DNMT1; the interaction is direct.
Interacts with USP7; leading to its deubiquitination. Interacts with histone H3. Interacts with HDAC1, but not
with HDAC2. Interacts with UHRF1BP1. Interacts with PML. Interacts with EHMT2. Binds hemimethylated CpG
containing oligonucleotides
Developmental stage: Expressed in fetal thymus, liver and kidney
Sequence caution: Sequence=BAB15177.1; Type=Erroneous initiation;
Selected PDB 3D structures from and Proteopedia for UHRF1 (see all 22):
2FAZ (3D)        2L3R (3D)        2LGG (3D)        2LGK (3D)        2LGL (3D)        2PB7 (3D)    
Secondary accessions: A0JBR2 A8K024 B2RBA9 Q2HIX7 Q8J022 Q9H6S6 Q9P115 Q9P1U7
Alternative splicing: 2 isoforms:  Q96T88-1   Q96T88-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UHRF1: NX_Q96T88

Explore proteomics data for UHRF1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-298 of the linker region decreases the binding to H3K9me3. Phosphorylation at Ser-639 by
    CDK1 during M phase impairs interaction with USP7, preventing deubiquitination and leading to degradation by the
    proteasome1
  • Ubiquitinated; which leads to proteasomal degradation. Autoubiquitinated; interaction with USP7 leads to
    deubiquitination and prevents degradation. Ubiquitination and degradation takes place during M phase, when
    phosphorylation at Ser-639 prevents intereaction with USP7 and subsequent deubiquitination. Polyubiquitination
    may be stimulated by DNA damage1
  • Ubiquitination2 at Lys31, Lys50, Lys385, Lys399, Lys408, Lys500, Lys525, Lys560, Lys570, Lys600,
                                 Lys692
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for UHRF1 (Q96T88) (see all 8)
     GVHRPHV  HNVCKDCL  QRLFYRGKQ  WRFRVQVSE 


    See UHRF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001041666.1  NP_001276979.1  NP_001276980.1  NP_001276981.1  NP_037414.3  

    UHRF1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for UHRF1

     
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    antibodies-online proteins for UHRF1 (6 products) 

     
    antibodies-online peptides for UHRF1

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    antibodies-online antibodies for UHRF1 (57 products) 

    UHRF1 Assay Products:

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    antibodies-online kits for UHRF1 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers

    Selected InterPro protein domains (see all 11):
     IPR001841 Znf_RING
     IPR001965 Znf_PHD
     IPR003105 SRA_YDG
     IPR013083 Znf_RING/FYVE/PHD
     IPR000626 Ubiquitin_dom

    Graphical View of Domain Structure for InterPro Entry Q96T88

    ProtoNet protein and cluster: Q96T88

    2 Blocks protein domains:
    IPB000626 Ubiquitin domain
    IPB001841 Zn-finger


    UniProtKB/Swiss-Prot: UHRF1_HUMAN, Q96T88
    Domain: The tudor-like regions specifically recognize and bind histone H3 unmethylated at 'Arg-2' (H3R2me0), while
    the PHD-type zinc finger specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3). The
    tudor-like regions simultaneously recognizes H3K9me3 through a conserved aromatic cage in the first tudor-like
    subdomain and unmodified H3K4 (H3K4me0) within a groove between the tandem subdomains (PubMed:21489993,
    PubMed:21777816 and PubMed:22100450). The linker region plays a role in the formation of a histone H3-binding
    hole between the reader modules formed by the tudor-like regions and the PHD-type zinc finger by making extended
    contacts with the tandem tudor-like regions (PubMed:22837395)
    Domain: The YDG domain (also named SRA domain) specifically recognizes and binds hemimethylated DNA at replication
    forks (DNA that is only methylated on the mother strand of replicating DNA) (PubMed:17673620). It contains a
    binding pocket that accommodates the 5-methylcytosine that is flipped out of the duplex DNA. 2 specialized loops
    reach through the resulting gap in the DNA from both the major and the minor grooves to read the other 3 bases of
    the CpG duplex. The major groove loop confers both specificity for the CpG dinucleotide and discrimination
    against methylation of deoxycytidine of the complementary strand (PubMed:18772889). The YDG domain also
    recognizes and binds 5-hydroxymethylcytosine (5hmC) (PubMed:21731699)
    Domain: The RING finger is required for ubiquitin ligase activity (By similarity)
    Similarity: Contains 1 PHD-type zinc finger
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 1 ubiquitin-like domain
    Similarity: Contains 1 YDG domain


    Find genes that share domains with UHRF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UHRF1_HUMAN, Q96T88
    Function: Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin
    modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and
    recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA
    replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin
    modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone
    H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin
    proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for
    this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription
    possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by
    mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3
    ubiquitin-protein ligase activity is related to its role in chromatin in vivo. May be involved in DNA repair
    Induction: Up-regulated in proliferating cells, and down-regulated in quiescent cells. Down-regulated upon
    adriamycin-induced DNA damage, in a p53/TP53 and CDKN1A-dependent way. Induced by E2F1 transcription factor

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

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000987core promoter proximal region sequence-specific DNA binding IDA10646863
    GO:0003700sequence-specific DNA binding transcription factor activity TAS1868030
    GO:0004842ubiquitin-protein ligase activity ISS--
    GO:0005515protein binding IPI15361834
    GO:0008270zinc ion binding IDA--
         
    Find genes that share ontologies with UHRF1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for UHRF1:
     Increased cell death HMECs cel 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Uhrf1):
     cellular  craniofacial  embryogenesis  growth/size/body  mortality/aging 
     nervous system  skeleton 

    Find genes that share phenotypes with UHRF1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Uhrf1tm1Hko for UHRF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UHRF1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for UHRF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UHRF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for UHRF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target UHRF1:
    hsa-mir-7-5p (MIRT025644), hsa-mir-34a-5p (MIRT025268), hsa-mir-10a-5p (MIRT047656), hsa-mir-615-3p (MIRT039881), hsa-mir-221-3p (MIRT046925), hsa-mir-1 (MIRT001324), hsa-let-7b-5p (MIRT001580), hsa-mir-10b-5p (MIRT047494), hsa-let-7a-5p (MIRT052615), hsa-mir-124-3p (MIRT002574), hsa-mir-191-5p (MIRT045790)

    Block miRNA regulation of human, mouse, rat UHRF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UHRF1 (see all 52):
    hsa-miR-579 hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-188-5p hsa-let-7d hsa-miR-146a hsa-miR-346
    SwitchGear 3'UTR luciferase reporter plasmidUHRF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UHRF1

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    Addgene plasmids for UHRF1 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UHRF1_HUMAN, Q96T88: Nucleus. Note=Localizes to replication foci. Enriched in pericentric heterochromatin. Also
    localizes to euchromatic regions
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0000791euchromatin IDA--
    GO:0000792heterochromatin IDA17967883
    GO:0005634nucleus IDA10646863
    GO:0005657replication fork IDA17673620

    Find genes that share ontologies with UHRF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for UHRF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with UHRF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for UHRF1
        Chromatin Regulation / Acetylation


    UniProtKB/Swiss-Prot: UHRF1_HUMAN, Q96T88
    Pathway: Protein modification; protein ubiquitination

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UHRF1
    Interactions:

        GeneGlobe Interaction Network for UHRF1

    Selected Interacting proteins for UHRF1 (Q96T881, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 47)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA--
    GO:0006281DNA repair IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007049cell cycle IEA--
    GO:0008283cell proliferation IEP15361834

    Find genes that share ontologies with UHRF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for UHRF1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UHRF1 gene (5 alternative transcripts): 
    NM_001048201.2  NM_001290050.1  NM_001290051.1  NM_001290052.1  NM_013282.4  

    Unigene Cluster for UHRF1:

    Ubiquitin-like with PHD and ring finger domains 1
    Hs.108106  [show with all ESTs]
    Unigene Representative Sequence: AB177623
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000592666(processed_transcript) ENST00000591733(processed_transcript) ENST00000587870(processed_transcript) ENST00000587187(processed_transcript) ENST00000591699(processed_transcript)
    ENST00000592200(processed_transcript) ENST00000398240(processed_transcript) ENST00000262952(processed_transcript) ENST00000543616(processed_transcript)
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    hsa-miR-579 hsa-miR-520e hsa-miR-302d hsa-miR-520f hsa-miR-188-5p hsa-let-7d hsa-miR-146a hsa-miR-346
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      QuantiTect SYBR Green Assays in human, mouse, rat UHRF1
      QuantiFast Probe-based Assays in human, mouse, rat UHRF1

    Additional mRNA sequence: 

    AB177623.1 AB177624.1 AF129507.1 AF274048.1 AK025578.1 AK074377.1 AK098038.1 AK289389.1 
    AK303361.1 AK307239.1 AK314579.1 BC039136.1 BC046179.1 BC113875.1 BC137009.1 BC137015.1 
    EF560733.1 

    9 DOTS entries:

    DT.215306  DT.99931382  DT.87003366  DT.121120124  DT.121120047  DT.100780588  DT.92058772  DT.102822372 
    DT.121471213 

    Selected AceView cDNA sequences (see all 140):

    AW971840 BX281402 AW298508 AA306523 AA380437 AA598940 AA744240 AA927056 
    AA330245 BF515337 AA811217 BM818106 BM457271 AA776570 AI939609 CD624706 
    AI084125 AA827671 AI630555 AA282079 AI479687 BU154686 BG289630 AW408155 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UHRF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGTGGCTCA
    UHRF1 Expression
    About this image


    UHRF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Gonad
             Secondary Oocyte Antral Follicle
             Primordial germ cell-like cells
     
     Ovary (Reproductive System)
             Secondary Oocyte Antral Follicle
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Germ Cells (Reproductive System)
             Primordial germ cell-like cells
     
     Thymus (Hematopoietic System)
    UHRF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UHRF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.108106

    UniProtKB/Swiss-Prot: UHRF1_HUMAN, Q96T88
    Tissue specificity: Expressed in thymus, bone marrow, testis, lung and heart. Overexpressed in breast cancer

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UHRF1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Uhrf11 , 5 ubiquitin-like, containing PHD and RING finger domains, more1, 5 75.68(n)1
    76.46(a)1
      17 (29.26 cM)5
    181401  NM_010931.31  NP_035061.31 
     563033215 
    chicken
    (Gallus gallus)
    Aves UHRF11 ubiquitin-like with PHD and ring finger domains 1 68.16(n)
    75.37(a)
      420154  XM_418269.4  XP_418269.4 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.151172 Xenopus laevis transcribed sequence with moderate similarity more 73.02(n)    BJ097292.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb97f092 Danio rerio cDNA clone MGC63539 IMAGE3815965, complete more 77.92(n)    BC058055.1 


    ENSEMBL Gene Tree for UHRF1 (if available)
    TreeFam Gene Tree for UHRF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UHRF1 gene
    1 SIMAP similar gene for UHRF1 using alignment to 2 protein entries:     UHRF1_HUMAN (see all proteins):
    UHRF2

    Find genes that share paralogs with UHRF1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for UHRF1
    PGOHUM00000239702


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UHRF1 (see all 1390)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs345911761,2
    C--4703045(+) TTTTT-/TGAGAC 2 -- int11Minor allele frequency- T:0.00NA 2
    rs1839046911,2
    --4907577(+) ACGCCC/TGGCCC 1 -- us2k10--------
    rs1400922501,2
    --4907644(+) CAGGGA/CGGGTT 1 -- us2k10--------
    rs1887943931,2
    --4907650(+) GGGTTC/TTAGGA 1 -- us2k10--------
    rs598679681,2
    C--4907741(+) TTTTT-/T/TT  
            
    GAGAC
    1 -- us2k11NA 2
    rs1436789881,2
    --4907787(+) TGGCGC/TGATCT 1 -- us2k10--------
    rs1930580061,2
    --4907828(+) CAAGCA/GATTCT 1 -- us2k10--------
    rs1829408521,2
    --4908013(+) GCCAAC/TGCGCC 1 -- us2k10--------
    rs48076631,2
    C,F,A--4908015(+) CAACGT/CGCCCG 1 -- us2k13Minor allele frequency- C:0.44NA WA 122
    rs1463144941,2
    C--4908079(+) TTTGAC/TCTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for UHRF1 (4903092 - 4962165 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for UHRF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv910863CNV Loss21882294
    dgv3682n71CNV Loss21882294
    nsv518075CNV Loss19592680
    nsv910862CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607990    OMIM disorders: --

    UniProtKB/Swiss-Prot: UHRF1_HUMAN, Q96T88
  • Note=Defects in UHRF1 may be a cause of cancers. Overexpressed in many different forms of human cancers,
    including bladder, breast, cervical, colorectal and prostate cancers, as well as pancreatic adenocarcinomas,
    rhabdomyosarcomas and gliomas. Plays an important role in the correlation of histone modification and gene
    silencing in cancer progression. Expression is associated with a poor prognosis in patients with various cancers,
    suggesting that it participates in cancer progression


  • Find genes that share disorders with UHRF1           About GenesLikeMe

    3 Novoseek inferred disease relationships for UHRF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 34.7 18 12838312 (6), 17934516 (1), 10646863 (1), 11290415 (1) (see all 7)
    breast carcinoma 27.5 2 12838312 (1), 10646863 (1)
    leukemia 9.32 1 11290415 (1)

    Genetic Association Database (GAD): UHRF1
    Human Genome Epidemiology (HuGE) Navigator: UHRF1 (2 documents)

    Export disorders for UHRF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UHRF1 gene, integrated from 10 sources (see all 113):
    (articles sorted by number of sources associating them with UHRF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ICBP90, a novel human CCAAT binding protein, involved in the regulation of topoisomerase IIa expression. (PubMed id 10646863)1, 2, 3, 9 Hopfner R.... Bronner C. (Cancer Res. 2000)
    2. UHRF1 is a novel molecular marker for diagnosis and the prognosis of bladder cancer. (PubMed id 19491893)1, 2, 9 Unoki M....Hamamoto R. (Br. J. Cancer 2009)
    3. UHRF1 binds G9a and participates in p21 transcriptional regulation in mammalian cells. (PubMed id 19056828)1, 2, 9 Kim J.K.... Pradhan S. (Nucleic Acids Res. 2009)
    4. ICBP90 belongs to a new family of proteins with an expression that is deregulated in cancer cells. (PubMed id 12838312)1, 2, 9 Mousli M.... Bronner C. (Br. J. Cancer 2003)
    5. Phosphorylation of ICBP90 by protein kinase A enhances topoisomerase IIalpha expression. (PubMed id 15178447)1, 2, 9 Trotzier M.-A.... Mousli M. (Biochem. Biophys. Res. Commun. 2004)
    6. UHRF1 plays a role in maintaining DNA methylation in mammalian cells. (PubMed id 17673620)1, 2, 9 Bostick M....Jacobsen S.E. (Science 2007)
    7. Isolation and characterization of a novel human radiosusceptibility gene, NP95. (PubMed id 17067204)1, 2, 9 Muto M.... Tatsumi K. (Radiat. Res. 2006)
    8. Structure and hemimethylated CpG binding of the SRA domain from human UHRF1. (PubMed id 18945682)1, 2, 9 Qian C.... Zhou M.M. (J. Biol. Chem. 2008)
    9. UHRF1 coordinates peroxisome proliferator activated receptor gamma (PPARG) epigenetic silencing and mediates colorectal cancer progression. (PubMed id 22286757)1, 2 Sabatino L.... Colantuoni V. (Oncogene 2012)
    10. Recognition of modification status on a histone H3 tail by linked histone reader modules of the epigenetic regulator UHRF1. (PubMed id 22837395)1, 2 Arita K.... Shirakawa M. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 29128 HGNC: 12556 AceView: UHRF1 Ensembl:ENSG00000034063 euGenes: HUgn29128
    ECgene: UHRF1 H-InvDB: UHRF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UHRF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for UHRF1 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/uhrf1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UHRF1 gene:
    Search GeneIP for patents involving UHRF1

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



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