Ask about this productRelated genes to: UBN1 antibody
- Gene:
- UBN1 NIH gene
- Name:
- ubinuclein 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2000-02-25
- Date modifiied:
- 2015-08-24
Related products to: UBN1 antibody
Related articles to: UBN1 antibody
- Splicing variants significantly contribute to Mendelian disorders, yet predicting their pathogenicity remains challenging. To address this issue, we developed a framework that simplifies the evaluation of pathogenic splicing single nucleotide variants (SNVs) while following ACMG/AMP guidelines and ClinGen recommendations established in 2023. Our system simplifies the 2023 ClinGen criteria by assigning a priority score (ranging from -10 to 14) to SNVs in open reading frame regions. Validation using pathogenic splicing SNVs from the Human Gene Mutation Database and common SNVs from gnomAD demonstrated superior discrimination compared to SpliceAI alone (area under the receiver operating characteristic 0.991 versus 0.983, = 2.11 × 10⁻). When applied to 1257 patients with unresolved diagnoses after exome sequencing, our framework identified pathogenic splicing variants in , and and suggested potential candidate disease-causing genes, and . This method enhances the detection of splicing variants in exome sequencing. - Source: PubMed
Publication date: 2025/12/19
Utsuno YasuhiroHamanaka KoheiSakamoto MasamuneTsuchida NaomiUchiyama YuriKoshimizu ErikoFujita AtsushiMiyatake SatokoMizuguchi TakeshiMatsumoto Naomichi - PML nuclear bodies (PML-NBs) are dynamic subnuclear structures important for chromatin dynamics and anti-viral defense. In this study we investigate the role of Sp100 isoforms in promoting localization of the H3.3 histone chaperone HIRA to PML-NBs in human keratinocytes. Sp100 knockout (KO) cell lines were generated using CRISPR-Cas9 technology and shown to display normal keratinocyte differentiation and PML-NB formation. However, HIRA and its associated complex members (UBN1 and ASF1a) failed to localize to PML-NBs in the absence of Sp100, even after interferon stimulation. Exogenous expression of the four main isoforms of Sp100 showed that the Sp100A isoform is the primary driver of HIRA localization to PML-NBs, with the SUMO interacting motif (SIM) playing an important role. These findings highlight the functional diversity of the Sp100 isoforms in modulating chromatin dynamics at PML-NBs. - Source: PubMed
Publication date: 2025/03/06
Della Fera Ashley NArman WardaPowers Maceo EWarburton AlixMcBride Alison A - The HIRA complex mediates deposition of histone H3.3 independent of replication. Its functions in gene regulation in mice remain to be fully understood. Here we analyze mutations of the HIRA complex genes Ubn1 and Ubn2. We observe that Ubn1 mutant mice of both sexes are viable and fertile. In contrast, mutation of Ubn2 causes embryonic lethality with variable penetrance and skewed sex ratio in favor of males. Combined Ubn1 and Ubn2 mutations cause embryonic lethality with complete penetrance, variable developmental arrest before turning, and reduced recovery of female embryos. Consistent with a female specific function of the HIRA complex, reanalysis of the Hira mutation during embryogenesis reveals that previously observed severe and mild phenotypic classes correspond to female and male sex. Mechanistically, we show that mutations of Ubn1, Ubn2, and Hira in mouse embryonic stem cells affect the initiation of X inactivation. Xist mediated gene silencing is impaired to increasing extent by Ubn1, Ubn2, Hira, and combined Ubn1 and Ubn2 mutations. We identify a failure of establishing histone H3 tri-methyl lysine 27 over X-linked genes after induction of Xist expression as earliest molecular defect, whereas deacetylation of lysine 27 by Xist remains largely unaffected by the loss of Ubinucleins. Our study thereby identifies a switch from histone H3 acetyl to tri-methyl lysine 27 at the initiation of X inactivation that depends on HIRA complex function. - Source: PubMed
Publication date: 2025/06/02
Monfort AsunDi Minin GiulioSting SarahDumeau Charles EtienneScambler PeterWutz Anton - The HIRA complex, composed of HIRA, UBN1, and CABIN1 in humans, plays a central role in histone chaperone activity and chromatin regulation by depositing the H3.3 histone variant into nucleosomes. Proper subunit interactions are critical for complex stability and function. In this study, we examine the interaction between Hir2 and Hpc2, the yeast homologs of HIRA and UBN1, using biochemical and structural approaches. We show that the N-terminal to the Hpc2-related domain (NHRD) of Hpc2 binds to the WD40 domain of Hir2, consistent with the human HIRA-UBN1 interaction. The crystal structure of the Hir2_WD40-Hpc2_NHRD complex reveals a seven-bladed β-propeller fold in Hir2_WD40, with Hpc2_NHRD forming an antiparallel β sheet interface. Notably, a unique five-stranded blade in Hir2_WD40, stabilized by proline residue P228, is essential for Hpc2 binding. Mutational analysis confirms key interface residues, providing structural insights into the evolutionary conservation of the HIRA complex. - Source: PubMed
Publication date: 2025/05/30
Tseng Chu-HsinHsieh Wen-LinChiang Wesley TienHu Nien-JenLin Chia-Liang - Thyroid cancer (TC) is the most common endocrine malignancy, with 90%-95% of the cases representing non-medullary thyroid cancer (NMTC). Familial cases account only for a few of all cases and the underlying genetic causes are still poorly understood. - Source: PubMed
Srivastava AayushiSkopelitou DiamantoMiao BeipingGiagiobbe SaraParamasivam NagarajanKumar AbhishekDiquigiovanni ChiaraBonora ElenaBandapalli Obul ReddyFörsti AstaHemminki Kari