Free for academic non-profit institutions. Other users need a Commercial license

Aliases for UHRF1 Gene

Aliases for UHRF1 Gene

  • Ubiquitin Like With PHD And Ring Finger Domains 1 2 3
  • Ubiquitin-Like PHD And RING Finger Domain-Containing Protein 1 3 4
  • Ubiquitin-Like With PHD And Ring Finger Domains 1 3 5
  • Inverted CCAAT Box-Binding Protein Of 90 KDa 3 4
  • Nuclear Zinc Finger Protein Np95 3 4
  • Transcription Factor ICBP90 3 4
  • RING Finger Protein 106 3 4
  • Nuclear Protein 95 3 4
  • HuNp95 3 4
  • ICBP90 3 4
  • RNF106 3 4
  • HUHRF1 3 4
  • HNP95 3 4
  • Np95 3 4
  • Ubiquitin-Like-Containing PHD And RING Finger Domains Protein 1 4
  • Nuclear Phosphoprotein 95 3
  • EC 6.3.2.- 4
  • EC 6.3.2 63
  • TDRD22 3

External Ids for UHRF1 Gene

Previous GeneCards Identifiers for UHRF1 Gene

  • GC19P005001
  • GC19P004849
  • GC19P004860
  • GC19P004861
  • GC19P004671

Summaries for UHRF1 Gene

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. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and ligase activity. An important paralog of this gene is UHRF2.

UniProtKB/Swiss-Prot for UHRF1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UHRF1 Gene

Genomics for UHRF1 Gene

Regulatory Elements for UHRF1 Gene

Enhancers for UHRF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around UHRF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for UHRF1 Gene

Chromosome:
19
Start:
4,903,080 bp from pter
End:
4,962,154 bp from pter
Size:
59,075 bases
Orientation:
Plus strand

Genomic View for UHRF1 Gene

Genes around UHRF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UHRF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UHRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UHRF1 Gene

Proteins for UHRF1 Gene

  • Protein details for UHRF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T88-UHRF1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase UHRF1
    Protein Accession:
    Q96T88
    Secondary Accessions:
    • A0JBR2
    • A8K024
    • B2RBA9
    • Q2HIX7
    • Q8J022
    • Q9H6S6
    • Q9P115
    • Q9P1U7

    Protein attributes for UHRF1 Gene

    Size:
    793 amino acids
    Molecular mass:
    89814 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAB15177.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UHRF1 Gene

    Alternative splice isoforms for UHRF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UHRF1 Gene

Proteomics data for UHRF1 Gene at MOPED

Post-translational modifications for UHRF1 Gene

  • 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 proteasome.
  • 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 damage.
  • Ubiquitination at Lys 31, Lys 50, Lys 385, Lys 399, Lys 408, Lys 500, Lys 525, Lys 570, Lys 600, and Lys 692
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for UHRF1 (UHRF1)

Domains & Families for UHRF1 Gene

Suggested Antigen Peptide Sequences for UHRF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96T88

UniProtKB/Swiss-Prot:

UHRF1_HUMAN :
  • 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).
  • Contains 1 PHD-type zinc finger.
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).
  • 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).
  • The RING finger is required for ubiquitin ligase activity.
  • Contains 1 ubiquitin-like domain.
  • Contains 1 YDG domain.
Similarity:
  • Contains 1 PHD-type zinc finger.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with UHRF1: view

Function for UHRF1 Gene

Molecular function for UHRF1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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) for UHRF1 Gene

Gene Ontology (GO) - Molecular Function for UHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000987 core promoter proximal region sequence-specific DNA binding IDA 10646863
GO:0005515 protein binding IEA,IPI 15361834
GO:0016874 ligase activity IEA --
GO:0031493 nucleosomal histone binding ISS --
GO:0035064 methylated histone binding IDA 17967883
genes like me logo Genes that share ontologies with UHRF1: view
genes like me logo Genes that share phenotypes with UHRF1: view

Animal Models for UHRF1 Gene

MGI Knock Outs for UHRF1:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for UHRF1 Gene

Localization for UHRF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UHRF1 Gene

Nucleus. Note=Localizes to replication foci. Enriched in pericentric heterochromatin. Also localizes to euchromatic regions.

Gene Ontology (GO) - Cellular Components for UHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016363 nuclear matrix ISS --
genes like me logo Genes that share ontologies with UHRF1: view

No data available for Subcellular locations from COMPARTMENTS for UHRF1 Gene

Pathways & Interactions for UHRF1 Gene

genes like me logo Genes that share pathways with UHRF1: view

Pathways by source for UHRF1 Gene

1 Cell Signaling Technology pathway for UHRF1 Gene

UniProtKB/Swiss-Prot Q96T88-UHRF1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for UHRF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for UHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 21777816
GO:0006281 DNA repair IEA --
GO:0010467 gene expression TAS --
GO:0032270 positive regulation of cellular protein metabolic process IDA 10646863
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IDA 22945642
genes like me logo Genes that share ontologies with UHRF1: view

Drugs & Compounds for UHRF1 Gene

No Compound Related Data Available

Transcripts for UHRF1 Gene

Unigene Clusters for UHRF1 Gene

Ubiquitin-like with PHD and ring finger domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UHRF1 Gene

No ASD Table

Relevant External Links for UHRF1 Gene

GeneLoc Exon Structure for
UHRF1
ECgene alternative splicing isoforms for
UHRF1

Expression for UHRF1 Gene

mRNA expression in normal human tissues for UHRF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for UHRF1 Gene

This gene is overexpressed in Bone (32.2) and Plasma (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for UHRF1 Gene



SOURCE GeneReport for Unigene cluster for UHRF1 Gene Hs.108106

mRNA Expression by UniProt/SwissProt for UHRF1 Gene

Q96T88-UHRF1_HUMAN
Tissue specificity: Expressed in thymus, bone marrow, testis, lung and heart. Overexpressed in breast cancer.
genes like me logo Genes that share expression patterns with UHRF1: view

Protein tissue co-expression partners for UHRF1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for UHRF1 Gene

Orthologs for UHRF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UHRF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UHRF1 35
  • 84 (n)
  • 86.23 (a)
dog
(Canis familiaris)
Mammalia UHRF1 35
  • 85.77 (n)
  • 89.04 (a)
mouse
(Mus musculus)
Mammalia Uhrf1 35
  • 75.68 (n)
  • 76.46 (a)
Uhrf1 16
chimpanzee
(Pan troglodytes)
Mammalia UHRF1 35
  • 98.96 (n)
  • 99.62 (a)
rat
(Rattus norvegicus)
Mammalia Uhrf1 35
  • 75.83 (n)
  • 76.34 (a)
chicken
(Gallus gallus)
Aves UHRF1 35
  • 68.16 (n)
  • 75.37 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3974 35
uhrf1 35
  • 64.29 (n)
  • 70.65 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15117 35
zebrafish
(Danio rerio)
Actinopterygii uhrf1 35
  • 69.53 (n)
  • 69.49 (a)
wufb97f09 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4344 35
Species with no ortholog for UHRF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for UHRF1 Gene

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

Paralogs for UHRF1 Gene

Paralogs for UHRF1 Gene

(1) SIMAP similar genes for UHRF1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with UHRF1: view

Variants for UHRF1 Gene

Sequence variations from dbSNP and Humsavar for UHRF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_022554 -
rs17885791 - 4,944,193(+) TGAGA(A/G)AGAGC reference, missense
rs17883331 - 4,954,443(+) GCTTC(A/G/T)CGTCC reference, missense
rs17884843 - 4,954,456(+) CAGGA(C/T)GGGCA reference, missense
rs17883563 - 4,956,717(+) CAGTT(G/T)TTCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for UHRF1 Gene

Variant ID Type Subtype PubMed ID
nsv910862 CNV Loss 21882294
nsv910863 CNV Loss 21882294
dgv3682n71 CNV Loss 21882294
nsv518075 CNV Loss 19592680

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for UHRF1 Gene

Disorders for UHRF1 Gene

UniProtKB/Swiss-Prot

UHRF1_HUMAN
  • 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.

Relevant External Links for UHRF1

Genetic Association Database (GAD)
UHRF1
Human Genome Epidemiology (HuGE) Navigator
UHRF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UHRF1

No disorders were found for UHRF1 Gene.

No data available for MalaCards and Genatlas for UHRF1 Gene

Publications for UHRF1 Gene

  1. ICBP90, a novel human CCAAT binding protein, involved in the regulation of topoisomerase IIa expression. (PMID: 10646863) Hopfner R. … Bronner C. (Cancer Res. 2000) 2 3 4 23 67
  2. UHRF1 binds G9a and participates in p21 transcriptional regulation in mammalian cells. (PMID: 19056828) Kim J.K. … Pradhan S. (Nucleic Acids Res. 2009) 3 23
  3. UHRF1 is a novel molecular marker for diagnosis and the prognosis of bladder cancer. (PMID: 19491893) Unoki M. … Hamamoto R. (Br. J. Cancer 2009) 3 23
  4. UHRF1 recruits the histone acetyltransferase Tip60 and controls its expression and activity. (PMID: 19800870) Achour M. … Bronner C. (Biochem. Biophys. Res. Commun. 2009) 3 23
  5. The interaction of the SRA domain of ICBP90 with a novel domain of DNMT1 is involved in the regulation of VEGF gene expression. (PMID: 17934516) Achour M. … Bronner C. (Oncogene 2008) 3 23

Products for UHRF1 Gene

Sources for UHRF1 Gene

Content