C1orf109
- Known as:
- C1orf109
- Catalog number:
- 002819A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C1orf109
Related genes to: C1orf109
- Gene:
- C1orf109 NIH gene
- Name:
- chromosome 1 open reading frame 109
- Previous symbol:
- -
- Synonyms:
- FLJ20508
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-06-03
- Date modifiied:
- 2017-10-02
Related products to: C1orf109
Related articles to: C1orf109
- Ambient fine particulate matter (PM) exposure is well-documented for cardiovascular risks, however, limited evidence regarding the underlying mechanisms on cardiac conduction in the elderly, especially regarding longitudinal impacts. We aimed to identify key toxic inorganic elemental constituents in PM linked to cardiac electrophysiological abnormalities, DNA methylation-mediated pathways and the complex interplay with gene expression. The associations of PM and its inorganic chemical constituents with electrocardiography (ECG) parameters were analyzed in 348 measurements of the healthy elderly by mixture exposure models. Epigenomic analyses and bidirectional mediation analyses were conducted to explore the effect patterns of epigenetic changes. Integrated analysis were performed to identify the potential biological pathways. Mixture exposure models identified S and Pb as major contributors to prolonged QRS duration and QTc interval. Bidirectional mediation analysis combined high-dimension mediating analysis revealed 43 cytosine-phosphoguanine sites (CpGs) significantly mediated the association between exposure to PM, Pb, and S and ECG parameters, with about 90% showing weaker reverse mediation. Cis-eQTM analysis showed that PM and S elements associated DMPs modulated downstream gene expression, influencing ECG parameters. Specifically, four CpGs and their annotated gene expressions (, , , and ) showed consistent effects on these associations, collectively involving multiple pathways, including the antigen presentation, ceramide accumulation, and circadian rhythm. This study elucidates that the incorporation of integrated epigenomic and transcriptomic profiles may provide novel insights into environmental origins and promising biomarkers for the clinical treatment of cardiovascular diseases. - Source: PubMed
Publication date: 2025/10/16
Shi WanyingYan WenyanWang MengmengDeng FuchangRen HuiminGao JiuxuanZhang ShuyiLiu JuanFang JianlongWang JiaonanTong ShiluTang SongShi Xiaoming - Many neurodevelopmental defects are linked to genes involved in housekeeping functions, such as those encoding ribosome biogenesis factors. How reductions in ribosome biogenesis can result in tissue- and developmental-specific defects remains unclear. Here we describe variants in the ribosome biogenesis factor AIRIM/C1orf109 that are primarily associated with neurodevelopmental disorders. Using human cerebral organoids in combination with proteomic, single-cell RNA sequencing and single-organoid translation analyses, we identify a previously unappreciated drop in protein production during early brain development. We find that ribosome levels decrease during neuroepithelial differentiation, making differentiating cells particularly vulnerable to perturbations in ribosome biogenesis during this time. Reduced ribosome availability more profoundly impacts the translation of specific transcripts, disrupting both survival and cell fate commitment of transitioning neuroepithelia. Enhancing mTOR activity suppresses the growth and developmental defects associated with AIRIM/C1orf109 variants. This work provides evidence for the functional importance of regulated changes in global protein synthesis capacity during cellular differentiation. - Source: PubMed
Publication date: 2025/08/04
Ni ChunyangWei YudongVona BarbaraPark DayeaWei YuleiSchmitz Daniel ADing YiSakurai MasahiroBallard EmilyLi LeijieLiu YanKumar AshwaniXing ChaoQin ShenluKim SanginFoglizzo MartinaZhao JianchaoKim Hyung-GooEkmekci CumhurKarimiani Ehsan GhayoorImannezhad ShimaEghbal FatemehBadv Reza ShervinSchwaibold Eva Maria ChristinaDehghani MohammadrezaMehrjardi Mohammad Yahya VahidiMetanat ZahraEslamiyeh HoseinKhouj EbtissalAlhajj Saleh Mohammed NasserChedrawi AzizaRamzan KhushnoodaHashmi Jamil AAlluqmani Majed MBasit SulmanVeltra DanaiMarinakis Nikolaos MNiotakis GeorgiosVorgia PelagiaSofocleous ChristalenaLee HaneJeong Won ChanUmair MuhammadBilal MuhammadAlves César Augusto Pinheiro FerreiraSieber MatthewKruer MichaelHoulden HenryAlkuraya Fowzan SZeqiraj EltonGreenberg Roger ACenik CanYu LeqianMaroofian RezaWu JunBuszczak Michael - Eukaryotic ribosome biogenesis is an energy-consuming process involving many ATPase-driven steps. In yeast, AAA+ protein Drg1 releases an assembly factor Rlp24, a placeholder for Rpl24, from pre-60S particles just exported to cytosol. The equivalent process in human cells involves SPATA5 (Drg1 homolog) and additional factors. However, the mechanistic details remain unclear. Here we reveal that SPATA5 forms a 4:2:2:2 complex with SPATA5L1, C1orf109, and CINP. This complex features an N-terminal ring made of C1orf109, CINP and NTDs of SPATA5/SPATA5L1, and two hexameric AAA+ ATPase rings. Intriguingly, a conserved cysteine C672 in the P-loop of SPATA5 is sulfinylated, generating an inactive conformation incompatible with ATP binding. We also obtained a cryo-EM structure of pre-60S-bound SPATA5 complex. Different from yeast, the recognition of the pre-60S particle is mediated by human-specific factor CINP, through two distinct sets of interactions: one with GTPBP4 and the other with ES27A. Taken together, these data provide structural basis for understanding the cytoplasmic maturation of the pre-60S, and reveal human-specific features that might be harnessed for therapeutic purposes. - Source: PubMed
Publication date: 2025/04/23
Dai YuhaoWu DamuLi NingningMa ChengyingZhang YunyangGao Ning - Ubiquitin-dependent unfolding of the CMG helicase by VCP/p97 is required to terminate DNA replication. Other replisome components are not processed in the same fashion, suggesting that additional mechanisms underlie replication protein turnover. Here, we identify replisome factor interactions with a protein complex composed of AAA+ ATPases SPATA5-SPATA5L1 together with heterodimeric partners C1orf109-CINP (55LCC). An integrative structural biology approach revealed a molecular architecture of SPATA5-SPATA5L1 N-terminal domains interacting with C1orf109-CINP to form a funnel-like structure above a cylindrically shaped ATPase motor. Deficiency in the 55LCC complex elicited ubiquitin-independent proteotoxicity, replication stress, and severe chromosome instability. 55LCC showed ATPase activity that was specifically enhanced by replication fork DNA and was coupled to cysteine protease-dependent cleavage of replisome substrates in response to replication fork damage. These findings define 55LCC-mediated proteostasis as critical for replication fork progression and genome stability and provide a rationale for pathogenic variants seen in associated human neurodevelopmental disorders. - Source: PubMed
Publication date: 2024/03/29
Krishnamoorthy VidhyaFoglizzo MartinaDilley Robert LWu AngelaDatta ArindamDutta ParulCampbell Lisa JDegtjarik OksanaMusgrove Laura JCalabrese Antonio NZeqiraj EltonGreenberg Roger A - Long-read whole genome sequencing (lrWGS) has the potential to address the technical limitations of exome sequencing in ways not possible by short-read WGS. However, its utility in autosomal recessive Mendelian diseases is largely unknown. - Source: PubMed
Publication date: 2023/12/14
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