RNF113A Antibody
- Known as:
- RNF113A Antibody
- Catalog number:
- XW-7889
- Product Quantity:
- 0.05 mg
- Category:
- -
- Supplier:
- Prosci
- Gene target:
- RNF113A Antibody
Related genes to: RNF113A Antibody
- Gene:
- RNF113A NIH gene
- Name:
- ring finger protein 113A
- Previous symbol:
- ZNF183
- Synonyms:
- RNF113, Cwc24
- Chromosome:
- Xq24
- Locus Type:
- gene with protein product
- Date approved:
- 1996-10-18
- Date modifiied:
- 2014-11-19
Related products to: RNF113A Antibody
Related articles to: RNF113A Antibody
- -related disorders are rare X-linked conditions characterized by neurodevelopmental impairment, endocrine abnormalities, and gonadal dysgenesis. To date, this condition has been documented in only a few individuals. We report 46,XY twin siblings with a hemizygous pathogenic variant [901C > T, (Gln301*)], presenting with a remarkably consistent phenotype that includes microcephaly, corpus callosum dysgenesis, intractable epilepsy, subclinical hypothyroidism, microphallus, and bilateral testicular regression syndrome (TRS). Whole-exome sequencing identified a maternally inherited variant consistent with X-linked recessive inheritance. Despite the absence of testicular tissue, both twins had evidence of prenatal androgen exposure. Thyroid dysfunction evolved during infancy. These cases expand the phenotypic spectrum associated with pathogenic variant and provide evidence linking this gene to TRS. They further highlight the importance of whole-exome sequencing in evaluating complex 46,XY disorders of sex development with multisystem involvement. should be considered in the genetic evaluation of 46,XY disorder of sex development and TRS, particularly when accompanied with multisystem involvement. - Source: PubMed
Publication date: 2026/02/11
Resnick OrtalBeauchamp Giovanna - Trichothiodystrophies (TTDs) are a group of disorders that have been characterized by sparse, brittle, and sulfur deficient hair that showed a "tiger-tail" banding pattern. Though the majority of TTDs are inherited in an autosomal recessive pattern, RNF113A related trichothiodystrophy is X-linked. RNF113A-related TTD has been associated with a non-photosensitive trichothiodystrophy, characterized by intellectual disability, microcephaly, growth restriction and failure, genital abnormalities, endocrine abnormalities, recurrent infections, and abnormal brain magnetic resonance imaging (MRI). To date, six individuals have been described with RNF113A-related TTD. Here we describe two brothers in their 30's with a novel hemizygous variant c.635G>A p.Gly212Asp in the RNF113A gene, which is not present in the tissues tested in their mother. Protein modeling suggests significant structural alteration. The brothers are the oldest known affected individuals and have features consistent with X-linked trichothiodystrophy including intellectual disability, microcephaly, growth failure, dysmorphic features, severe myopia and tiger-tail banding pattern. Absence of endocrinological abnormalities, recurrent infections, genital abnormalities, and abnormal MRI showed that these are not universal findings of RNF113A related trichothiodystrophy. Given that absence of the variant in the patients' mother, we presume the mother to have low level somatic mosaicism or germline mosaicism for the variant. This highlights the importance of genetic counseling for accurate recurrence risks and warranted reproductive testing for parents and female siblings of affected individuals with presumed de novo variants. - Source: PubMed
Publication date: 2026/01/14
Rabin RachelBooth Kevin T ACowper Shawn EChoate KeithRubin Berish YEkstein JosephPappas JohnHirsch Yoel - Chemoresistance remains a major obstacle to effective cancer treatment, often driven by enhanced DNA repair mechanisms that enable tumor cells to withstand genotoxic therapies. One such pathway involves the atypical DNA damage repair complex ALKBH3-ASCC, activated by the E3 ligase RNF113A in response to alkylation damage. We previously showed that SMYD3-dependent methylation of RNF113A stimulates this pathway, enhancing DNA repair and promoting resistance. Here, we identify KDM7B/PHF8 as the bona fide RNF113A demethylase, establishing one of the first functional examples of a dynamic, reversible non-histone methylation event regulating genome integrity. KDM7B antagonizes SMYD3 activity by maintaining low levels of methylated RNF113A, thereby limiting ASCC activation and sensitizing cancer cells to alkylating agents. To dissect this regulation in depth, we focused on small cell lung cancer (SCLC), a particularly aggressive malignancy characterized by limited therapeutic options and rapid acquisition of resistance. In SCLC, high KDM7B levels correlate with improved patient prognosis, whereas xenografts with reduced expression exhibit diminished responses to alkylating treatment. Moreover, CRISPR-based on/off modulation of KDM7B in genetically engineered SCLC mouse models demonstrates its central role in determining tumor response to chemotherapy. Our findings position the RNF113A-ASCC axis as a central modulator of chemoresistance, regulated through a post-translational methylation switch representing an innovative therapeutic vulnerability that could be exploited to enhance the efficacy of alkylating agents. Targeting this pathway may provide new opportunities to overcome chemoresistance, with KDM7B levels serving as a predictive biomarker to guide treatment in SCLC. - Source: PubMed
Publication date: 2026/01/03
Ahmad TanveerYang XiaojieFoucher Anne-EmmanuelleRen LingnanTsao NingFlores NatashaWan JinkaiBelmudes LucidDubiez EtienneBhowmik Monika ChandanVayr JessicaHausmann SimoneChuffart FlorentLu XiaoyinBlanchet SandrineChasan TourkianBoussouar FaycalCouté YohannMosammaparast NimaLan FeiKadlec JanMazur Pawel KReynoird Nicolas - Trichothiodystrophy (TTD), a rare, autosomal recessive, multisystem developmental disorder, is characterized by short, brittle hair with "tiger-tailed banding" on polarized microscopy. TTD is caused by variations in 10 genes: 3 nucleotide excision repair/basal transcription factor IIH genes, 4 amino acid charging transfer RNA genes, basal transcription factor IIE, RNF113A, and an RNA-splicing gene (MPLKIP/TTDN1). We performed whole-exome sequencing to identify a candidate gene in Sabinas brittle hair syndrome, a mild form of TTD. We report 5 nonphotosensitive adult patients from 3 unrelated families with a homozygous missense variation in DBR1 (p.D262Y) encoding the RNA lariat-debranching enzyme DBR1, which is involved in the removal of introns from pre-mRNA in the nucleus. Post-UV DNA cell survival was normal, indicating that DBR1 was not involved in nucleotide excision repair/transcription factor IIH. There were reduced levels of DBR1 mRNA and protein. Interacting TTDN1 protein in cells from patients with DBR1 variations was markedly reduced. Genetic analysis suggests an ancient origin of this variation. Thus, Sabinas syndrome is caused by DBR1 variations, further indicating that TTD is a disorder of RNA metabolism (RNAopathy). - Source: PubMed
Publication date: 2025/07/17
Khan Sikandar GBaghoomian WeneliaKuschal-Tauzon ChristianeTamura DeborahLee Maxwell PDiGiovanna John JCepeda-Valdes RodrigoSalas-Alanis JulioKraemer Kenneth H - It has recently become clear that protein histidine methylation is widespread and functionally important in many cellular processes, and human CARNMT1 was recently reported as a novel protein histidine methyltransferase (HMT). We describe our independent uncovering of CARNMT1's protein HMT activity and a comprehensive assessment of its methylation targets and substrate specificity. Using a combination of in vitro methylation of cellular extracts and protein mass spectrometry, we identified several CARNMT1 substrates that were fully methylated in cells, all of which were C3H zinc finger (ZnF) proteins. These include the previously identified U2AF1, ZC3H15, and ZC3H18 but also the unreported RBM22, PPP1R10, PRR3, and RNF113A. Using peptide arrays, we investigated CARNMT1-mediated methylation of 145 candidate sequences, encompassing all C3H ZnFs and selected non-ZnFs. We found that only ∼30% of the tested sequences were methylated, with C3H ZnFs constituting the vast majority of the strongly methylated ones, most of which are also methylated in cells. This establishes peptide methylation as a good predictor of in vivo methylation. To investigate the specificity of CARNMT1, we systematically substituted His-proximal residues in four different substrate peptides. This generated four rather different sequence preference profiles, which were still quite restrictive for each peptide, indicating that substrate sequence recognition by CARNMT1 is context-dependent and that sequence-based prediction of additional CARNMT1 substrates may be challenging. We also identified several homologous methylation events in Caenorhabditis elegans and showed that they could be introduced by nematode CARNMT in vitro. Thus, CARNMT1 is an evolutionarily conserved protein HMT with a complex mode of substrate recognition. - Source: PubMed
Publication date: 2025/06/03
Małecki Jędrzej MWeirich SaraRamirez-Garrastacho ManuelHagen LarsAl-Egly JakinAnonsen Jan HSchroer LisaHerrera Maria CDavydova ErnaSlupphaug GeirJeltsch AlbertFalnes Pål Ø