UHRF1

ubiquitin like with PHD and ring finger domains 1, the group of MicroRNA protein coding host genes|Ring finger proteins|PHD finger proteins|Tudor domain containing

Basic information

Region (hg38): 19:4903079-4962154

Links

ENSG00000276043 ∙ NCBI:29128 ∙ OMIM:607990 ∙ HGNC:12556 ∙ Uniprot:Q96T88 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UHRF1 gene.

• Inborn genetic diseases (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UHRF1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in UHRF1

This is a list of pathogenic ClinVar variants found in the UHRF1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-4910853-G-T		not specified	Conflicting classifications of pathogenicity (Jan 01, 2024)
19-4910865-C-T		not specified	Likely benign (Nov 07, 2023)
19-4910921-G-C		not specified	Uncertain significance (Jan 26, 2022)
19-4910973-C-G		not specified	Uncertain significance (Mar 06, 2023)
19-4929279-C-T		not specified	Uncertain significance (Feb 06, 2023)
19-4929457-C-T		not specified	Uncertain significance (Apr 26, 2023)
19-4930789-G-A		not specified	Uncertain significance (Mar 27, 2023)
19-4930810-A-G		not specified	Uncertain significance (Nov 22, 2022)
19-4930873-A-G		not specified	Uncertain significance (Dec 06, 2021)
19-4932766-A-G		not specified	Uncertain significance (Jan 17, 2024)
19-4932781-G-A		not specified	Uncertain significance (Sep 14, 2022)
19-4932805-A-T		not specified	Uncertain significance (Dec 13, 2023)
19-4941544-G-A		not specified	Uncertain significance (Nov 12, 2021)
19-4941586-C-T		not specified	Uncertain significance (Jan 06, 2023)
19-4941623-T-C		not specified	Conflicting classifications of pathogenicity (Jan 01, 2024)
19-4941783-G-A		not specified	Uncertain significance (Mar 24, 2023)
19-4944139-C-T		not specified	Uncertain significance (Apr 19, 2023)
19-4944184-C-T		not specified	Uncertain significance (Jan 26, 2022)
19-4944198-C-G		not specified	Uncertain significance (Oct 06, 2022)
19-4944208-G-A		not specified	Uncertain significance (Aug 19, 2023)
19-4944214-A-T		not specified	Uncertain significance (Jan 02, 2024)
19-4950931-G-C		not specified	Uncertain significance (Oct 29, 2021)
19-4960760-C-T		not specified	Uncertain significance (May 30, 2022)
19-4960781-C-T		not specified	Uncertain significance (Jul 13, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: 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. {ECO:0000269|PubMed:10646863, ECO:0000269|PubMed:15009091, ECO:0000269|PubMed:15361834, ECO:0000269|PubMed:17673620, ECO:0000269|PubMed:17967883, ECO:0000269|PubMed:19056828, ECO:0000269|PubMed:21745816, ECO:0000269|PubMed:21777816, ECO:0000269|PubMed:22945642}.
• Disease: DISEASE: 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.
• Pathway: miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Pathways Affected in Adenoid Cystic Carcinoma;DNA methylation;Epigenetic regulation of gene expression;Gene expression (Transcription) (Consensus)

Recessive Scores

• pRec: 0.153

Haploinsufficiency Scores

• pHI: 0.239

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.846

Mouse Genome Informatics

• Gene name: Uhrf1
• Phenotype: growth/size/body region phenotype; cellular phenotype; craniofacial phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; skeleton phenotype; immune system phenotype

Zebrafish Information Network

• Gene name: uhrf1
• Affected structure: intestinal epithelial cell
• Phenotype tag: abnormal
• Phenotype quality: cuboid

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;DNA repair;ubiquitin-dependent protein catabolic process;cell cycle;cell population proliferation;maintenance of DNA methylation;histone monoubiquitination;protein ubiquitination;histone ubiquitination;positive regulation of cellular protein metabolic process;positive regulation of transcription by RNA polymerase II;protein autoubiquitination;positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity
• Cellular component: nuclear chromatin;euchromatin;heterochromatin;nucleus;replication fork;nuclear heterochromatin;nuclear matrix
• Molecular function: proximal promoter sequence-specific DNA binding;ubiquitin-protein transferase activity;protein binding;zinc ion binding;methyl-CpG binding;nucleosomal histone binding;methylated histone binding;histone binding;identical protein binding;hemi-methylated DNA-binding;ubiquitin protein ligase activity