AFF4
- Known as:
- AFF4
- Catalog number:
- 001268A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AFF4
Related genes to: AFF4
- Gene:
- AFF4 NIH gene
- Name:
- AF4/FMR2 family member 4
- Previous symbol:
- -
- Synonyms:
- AF5Q31, MCEF
- Chromosome:
- 5q31.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-06-27
- Date modifiied:
- 2016-10-05
Related products to: AFF4
Related articles to: AFF4
- Source: PubMed
- Insulin action on the skeleton is essential for bone development and whole-body energy metabolism, however a global view of signaling in this tissue is lacking. Furthermore, whether there are signaling differences that drive the gene-specific activation under insulin-resistant (IR) or ageing conditions is unknown. Here, we perform a phosphoproteomic analysis of insulin signaling in the bones of young, lean, insulin-sensitive versus old, obese, IR mice revealing a rewiring of phosphorylation. We target dysregulated phosphoproteins in a zebrafish functional genomic screen of bone development and mineralization revealing candidates important for skeletal formation. One of these is ALF Transcription Elongation Factor 4 (AFF4), the core scaffold of the Super Elongation Complex and we show that phosphorylation of S831 on AFF4 is an insulin-dependent substrate of P70S6K and attenuated in aged, IR bone. Phosphorylation of S831 is defective in IR osteoblasts and associated with reduced transcriptional elongation at discrete locations in the genome. Mechanistically, we show phosphorylation of S831 increases recruitment of chromatin remodelers, ENL/AF9 to crotonylated histone via the YEATS domain, and promotes gene-specific activation. Our analysis identifies regulators of insulin action on the skeleton, further uncovering a mechanism of IR via locus-specific changes in transcriptional elongation and gene activation. - Source: PubMed
Publication date: 2025/12/31
Dutt MrigaLiao LuopingKim Hani JieunBlazev RonnieChan AudreyKore HiteshBezawork-Geleta AyenachewDong LiRivera Isela SarahiWee Natalie K YMolendijk JeffreyWong Julian P HHaynes Vanessa RUribe VeronicaLynch Gordon SSmith Kelly AMontgomery Magdalene KWatt Matthew JYang PengyiDodd Garron TVervoort Stephin JSims Natalie AParker Benjamin L - Loss-of-function mutations in methyl-CpG binding protein 2 () cause Rett syndrome. While we know that MeCP2 binds to methylated cytosines on DNA, the full breadth of the molecular mechanisms by which MeCP2 regulates gene expression remains incompletely understood. Here, using a genetic modifier screen, we identify the super elongation complex, a P-TEFb-containing elongation factor that releases promoter-proximally paused RNA polymerase II, as a genetic interactor of . MeCP2 physically interacts with SEC subunits and directly binds AFF4, the scaffold of the SEC, via the transcriptional repression domain. Furthermore, MeCP2 facilitates the binding of AFF4 on a subset of genes in the mouse brain regulating synaptic plasticity and concordantly promotes the binding of RNA polymerase II on these genes. Last, while haploinsufficiency of does not exhibit any behavioral deficits in mice, it exacerbates the impaired contextual learning behavior of hypomorphic mice. We propose a previously unknown mechanism by which MePC2 regulates gene expression underlying synaptic plasticity. - Source: PubMed
Publication date: 2025/11/26
Sonn Jun YoungKim WonhoIwanaszko MartaAoi YukiLi YanQi GuantongParkitny LukeBrissette Janice LWeiner LorinBotas JuanAl-Ramahi IsmaelShilatifard AliZoghbi Huda Y - CHOPS (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) syndrome is an extremely rare disorder with multiple congenital anomalies caused by missense variants in the ALF transcription elongation factor 4 gene (). This study aimed to identify causative variants in a Chinese family with CHOPS syndrome. A Chinese girl with short stature, obesity, and developmental delay underwent comprehensive clinical and genetic evaluations, including karyotyping analysis, multiple ligation-dependent probe amplification, detection of aberrant methylation, whole exome sequencing, Sanger sequencing, and copy number variation analysis, followed by analyses. Reverse transcription, polymerase chain reaction, and Sanger sequencing were performed to evaluate the gene expression levels. The patient exhibited cognitive impairment, coarse facial appearance, obesity, short stature, skeletal involvement, and ophthalmic abnormalities. Genetic analyses identified a heterozygous c.778A>G (p.Met260Val) variant in in the proband, absent in parents and little sister, with no other remarkable results. This novel variant was classified as pathogenic, without apparent effect on relative gene expression. The identification of this missense variant as the genetic cause of CHOPS syndrome in this Chinese family broadens the genetic and phenotypic spectrum of the disorder. - Source: PubMed
Deng XinyueZhao LinglingChen MingXiang QinXu HongboWang JiangangDeng HaoYuan Lamei - Although aerobic glycolysis contributes to malignancy and drug resistance in human cancers, the vital regulators of glycolysis in lung adenocarcinoma (LUAD) remain largely unknown. Transcription factor AF4/FMR2 family member 4 (AFF4) is the scaffolding protein of the super elongation complex (SEC) and regulates the transcription of cancer-related genes. However, the role of AFF4 in glycolysis and LUAD development remains unidentified. - Source: PubMed
Publication date: 2025/08/11
Yao XufengChai QianMa YuhaoLi GuomengJia TiantianZhang XiaohangXia TaoWei XiaozhengFeng XueyiZhang YankeZhang YaqiangWang XueqinHan DanyeLi ZongweiZhao LeiDai Qian