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Aliases for UHRF1 Gene

Aliases for UHRF1 Gene

  • Ubiquitin-Like With PHD And Ring Finger Domains 1 2 3
  • ICBP90 3 4 6
  • Np95 3 4 6
  • Ubiquitin-Like PHD And RING Finger Domain-Containing Protein 1 3 4
  • 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
  • RNF106 3 4
  • HUHRF1 3 4
  • HNP95 3 4
  • Ubiquitin-Like-Containing PHD And RING Finger Domains Protein 1 4
  • E3 Ubiquitin-Protein Ligase UHRF1 3
  • Nuclear Phosphoprotein 95 3
  • EC 6.3.2.- 4
  • EC 6.3.2 64

External Ids for UHRF1 Gene

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 Chromatin Regulation / Acetylation. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and ubiquitin-protein transferase activity.

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

Genomic Location for UHRF1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UHRF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UHRF1 Gene

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys31, Lys50, Lys385, Lys399, Lys408, Lys500, Lys525, Lys560, Lys570, Lys600, and Lys692

Domains for UHRF1 Gene

Gene Families for UHRF1 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

UniProtKB/Swiss-Prot:

UHRF1_HUMAN
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).:
    • Q96T88
  • 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).:
    • Q96T88
  • The RING finger is required for ubiquitin ligase activity.:
    • Q96T88
  • Contains 1 ubiquitin-like domain.:
    • Q96T88
  • Contains 1 YDG domain.:
    • Q96T88
Similarity:
  • Contains 1 PHD-type zinc finger.:
    • Q96T88
  • Contains 1 RING-type zinc finger.:
    • Q96T88
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:0003700 sequence-specific DNA binding transcription factor activity TAS 1868030
GO:0004842 ubiquitin-protein transferase activity IDA 17967883
GO:0005515 protein binding IPI 15361834
GO:0008270 zinc ion binding IDA 21777816
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:

No data available for Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UHRF1 Gene COMPARTMENTS Subcellular localization image for UHRF1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for UHRF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0000791 euchromatin IDA 21777816
GO:0000792 heterochromatin IDA 17967883
GO:0005634 nucleus IDA 10646863
GO:0005657 replication fork IDA 17673620
genes like me logo Genes that share ontologies with UHRF1: view

Pathways 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

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:0006351 transcription, DNA-templated IEA --
GO:0007049 cell cycle IEA --
GO:0008283 cell proliferation IEP 15361834
genes like me logo Genes that share ontologies with UHRF1: view

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

Integrated Proteomics: protein expression 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 expressions with UHRF1: view

Orthologs for UHRF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for UHRF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UHRF1 36
  • 98.96 (n)
  • 99.62 (a)
cow
(Bos Taurus)
Mammalia UHRF1 36
  • 84 (n)
  • 86.23 (a)
dog
(Canis familiaris)
Mammalia UHRF1 36
  • 85.77 (n)
  • 89.04 (a)
mouse
(Mus musculus)
Mammalia Uhrf1 36
  • 75.68 (n)
  • 76.46 (a)
Uhrf1 16
rat
(Rattus norvegicus)
Mammalia Uhrf1 36
  • 75.83 (n)
  • 76.34 (a)
chicken
(Gallus gallus)
Aves UHRF1 36
  • 68.16 (n)
  • 75.37 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15117 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3974 36
uhrf1 36
  • 64.29 (n)
  • 70.65 (a)
zebrafish
(Danio rerio)
Actinopterygii uhrf1 36
  • 69.53 (n)
  • 69.49 (a)
wufb97f09 36
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4344 36
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

Selected SIMAP similar genes for UHRF1 Gene using alignment to 2 proteins:

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

No data available for Paralogs for UHRF1 Gene

Variants for UHRF1 Gene

Sequence variations from dbSNP and Humsavar for UHRF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs166386 -- 4,936,622(+) TTACC(C/T)TGCAT intron-variant
rs169081 -- 4,957,946(+) ACCCC(A/G)CGGAT intron-variant
rs187802 -- 4,947,835(+) gctca(C/T)gcctg intron-variant
rs190520 -- 4,926,043(+) caggc(A/G)cctgc intron-variant
rs197162 -- 4,957,329(+) tctga(A/G)acaga intron-variant

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

Relevant External Links for UHRF1 Gene

HapMap Linkage Disequilibrium report
UHRF1

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.

(3) Novoseek inferred disease relationships for UHRF1 Gene

Disease -log(P) Hits PubMed IDs
cancer 34.7 12
breast carcinoma 27.5 2
leukemia 9.32 1

Relevant External Links for UHRF1

Genetic Association Database (GAD)
UHRF1
Human Genome Epidemiology (HuGE) Navigator
UHRF1
genes like me logo Genes that share disorders with UHRF1: view

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
  2. Isolation and characterization of a novel human radiosusceptibility gene, NP95. (PMID: 17067204) Muto M. … Tatsumi K. (Radiat. Res. 2006) 3 4 23
  3. ICBP90 belongs to a new family of proteins with an expression that is deregulated in cancer cells. (PMID: 12838312) Mousli M. … Bronner C. (Br. J. Cancer 2003) 3 4 23
  4. Phosphorylation of ICBP90 by protein kinase A enhances topoisomerase IIalpha expression. (PMID: 15178447) Trotzier M.-A. … Mousli M. (Biochem. Biophys. Res. Commun. 2004) 3 4 23
  5. UHRF1 plays a role in maintaining DNA methylation in mammalian cells. (PMID: 17673620) Bostick M. … Jacobsen S.E. (Science 2007) 3 4 23

Products for UHRF1 Gene

  • Addgene plasmids for UHRF1

Sources for UHRF1 Gene

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