Ubiquitin-like, containing PHD and RING finger domains, 1, also known as UHRF1, is a protein which in humans is encoded by the UHRF1 gene.[5][6]

UHRF1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesUHRF1, ICBP90, Np95, RNF106, hNP95, hhuNp95, TDRD22, ubiquitin like with PHD and ring finger domains 1
External IDsOMIM: 607990; MGI: 1338889; HomoloGene: 7866; GeneCards: UHRF1; OMA:UHRF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001048201
NM_001290050
NM_001290051
NM_001290052
NM_013282

NM_001111078
NM_001111079
NM_001111080
NM_010931

RefSeq (protein)

NP_001041666
NP_001276979
NP_001276980
NP_001276981
NP_037414

NP_001104548
NP_001104549
NP_001104550
NP_035061

Location (UCSC)Chr 19: 4.9 – 4.96 MbChr 17: 56.61 – 56.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to hemi-methylated DNA during S-phase and recruits the main DNA methyltransferase protein, DNMT1, to regulate chromatin structure and 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, and functions in the p53-dependent DNA damage checkpoint. Multiple transcript variants encoding different isoforms have been found for this gene. It was originally identified as a direct regulator of topoisomerase 2a, but this has subsequently been disproven. Uhrf1 has been extensively studied in vivo using zebrafish.

Clinical significance

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UHRF1 has recently been identified as a novel oncogene in hepatocellular carcinoma, the primary type of liver cancer.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000276043Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001228Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: UHRF1 ubiquitin-like, containing PHD and RING finger domains, 1".
  6. ^ Hopfner R, Mousli M, Jeltsch JM, Voulgaris A, Lutz Y, Marin C, Bellocq JP, Oudet P, Bronner C (Jan 2000). "ICBP90, a novel human CCAAT binding protein, involved in the regulation of topoisomerase IIalpha expression". Cancer Research. 60 (1): 121–8. PMID 10646863.
  7. ^ Mudbhary R, Hoshida Y, Chernyavskaya Y, Jacob V, Villanueva A, Fiel MI, Chen X, Kojima K, Thung S, Bronson RT, Lachenmayer A, Revill K, Alsinet C, Sachidanandam R, Desai A, Senbanerjee S, Ukomadu C, Llovet JM, Sadler KC (2014). "UHRF1 Overexpression Drives DNA Hypomethylation and Hepatocellular Carcinoma". Cancer Cell. 25 (2): 196–209. doi:10.1016/j.ccr.2014.01.003. PMC 3951208. PMID 24486181.

Further reading

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