Ask about this productRelated genes to: Akap9 antibody
- Gene:
- AKAP9 NIH gene
- Name:
- A-kinase anchoring protein 9
- Previous symbol:
- -
- Synonyms:
- KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11
- Chromosome:
- 7q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1999-09-16
- Date modifiied:
- 2019-04-23
Related products to: Akap9 antibody
Related articles to: Akap9 antibody
- Inherited long QT syndrome (LQTS) is a life-threatening cardiac channelopathy characterized by impaired ventricular repolarization and heightened susceptibility to ventricular arrhythmias and sudden cardiac death. While mutations in ion channel genes (e.g., KCNQ1, KCNH2) are well-known causes of LQTS, emerging evidence highlights the critical role of regulatory proteins, including a-kinase anchoring protein 9 (AKAP9), in modulating channel function. AKAP9 scaffolds protein kinase A (PKA), protein phosphatase 1 (PP1), and phosphodiesterase PDE4D3 into a macromolecular complex with KCNQ1, enabling dynamic phosphorylation of the potassium channels in response to β-adrenergic stimulation. Mutations in AKAP9 gene (e.g., S1570L) or its binding partner KCNQ1 (e.g., G589D) destabilize this complex, impairing PKA-mediated phosphorylation of KCNQ1 at serine-27. This defect blunts the sympathetic enhancement of slow delayed rectifier potassium channel (I), a critical mechanism for augmenting repolarization reserve during stress. Consequently, action potential duration prolongation, QT interval elongation, and early afterdepolarizations even polymorphic ventricular tachycardia were induced, particularly under conditions of heightened sympathetic tone. This review focuses on how AKAP9 mutations disrupt the sympathetic regulation of the I, mediated by the KCNQ1-KCNE1 channel complex, and contribute to the pathogenesis of LQTS type 11. - Source: PubMed
Publication date: 2026/05/14
Yuan HuanLu LinWen HuLu JianZhang AnbiWu LinLi Miaoling - During myogenic differentiation, the Microtubule-Organizing Center (MTOC) is relocated to the nuclear envelope by a molecular platform including Linker of Nucleoskeleton and Cytoskeleton (LINC) complex proteins, A Kinase Anchoring Proteins (AKAP9 and AKAP6) and Pericentriolar Material 1 (PCM-1). Here, we show that emerin is required for centrosomal protein recruitment to the nuclear periphery of myonuclei and microtubule dynamics. In fact, in type 1 Emery-Dreifuss Muscular Dystrophy (EDMD1), loss of emerin was associated with altered pericentrin recruitment to the nuclear envelope, LINC protein impairment at the nuclear poles of myonuclei and microtubule organization defects. As a consequence, dynein, mitochondrial distribution and nuclear alignment along the longitudinal axis of the myotubes were altered in EDMD1 myotubes. Moreover, reduced levels of AKAP6 and PKA were detected at the nuclear periphery of EDMD1 myotubes, possibly contributing to an aberrant nuclear localization of the mechanosensing factor YAP. Upon rescue of emerin expression by CRISPR correction of mutated EMD gene: SUN1/2, pericentrin, AKAP6 and PKA were restored at the nuclear envelope and a correct YAP localization was observed in EDMD1 muscle cells. These results show that emerin is required for Nuclear Envelope-MTOC (NE-MTOC) organization in differentiating skeletal muscle cells and suggest that disruption of such complex is a key pathogenetic event in Emery-Dreifuss Muscular Dystrophy. - Source: PubMed
Publication date: 2026/05/12
Mattioli ElisabettaCenni VittoriaSabatelli PatriziaSchena ElisaSanti SpartacoFiorillo ChiaraBruno ClaudioPini AntonellaGiannotta MelaniaCavallo MarcoErrani CostantinoCattin EleonoraBenati DanielaRecchia AlessandraLattanzi Giovanna - Uterine mesenchymal neoplasms comprise a heterogeneous group of tumours with distinct morphological and molecular features. High-grade endometrial stromal sarcomas (HG-ESS) are typically defined by YWHAE::NUTM2 or BCOR alterations; however, a subset lacks these canonical rearrangements. We report a 59-year-old woman with a HG-ESS-like uterine mesenchymal neoplasm, composed of atypical oval cells with infiltrative growth, brisk mitotic activity, and tumour necrosis. Immunohistochemistry showed diffuse SMA and p16 expression with partial CD10 and cyclin D1 positivity while ER, PR, desmin, ALK, and panTRK were negative. RNA sequencing identified an AKAP9 exon 8 to BRAF exon 9 fusion, but no canonical ESS-associated rearrangements or additional alterations (including p53). This finding expands the molecular spectrum of uterine mesenchymal neoplasms and defines a novel kinase-driven subset. The BRAF fusion indicates MAPK pathway activation and raises the possibility of a distinct entity or a novel pathogenetic pathway in HG-ESS, with potential therapeutic implications. - Source: PubMed
Publication date: 2026/05/05
Mende Svenja PascaleHartmann NilsDeckert StefanieKloth MichaelRoth WilfriedHoenig ArndPorubsky Stefan - Desmoplastic small round cell tumor (DSRCT) is a rare but aggressive soft tissue sarcoma of the abdomen. With an asymptomatic course and rapid dissemination, DSRCT's prognosis is poor at diagnosis. This study characterizes the demographic variation and genomic profile of DSRCT to guide studies into diagnosis and treatment. The AACR GENIE database was utilized to identify genetic alterations in DSRCT. Data was queried to identify disease prevalence by different demographic variables. Information was collected on frequency of somatic mutations and copy number alterations, rates of mutation co-occurrence, and mutations seen in primary and metastatic samples. ARID1A, TP53, ATM, TERT, and FGFR4 were the most frequently identified somatic mutations. Copy number alterations seen in DSRCT were commonly homozygous deletions in tumor suppressor genes. Independent of sex, WT1 mutations were most common. Non-White patients saw single occurrences of many mutations but recurrent ones in ANKRD11 and KMT2C. Co-occurrence was found between FGFR4 and EP300. Moreover, primary tumor samples had exclusive mutations in AKAP9, KDM2B, MAGED1, MKI67, PCLO, and TRAF1. Metastatic samples had exclusive mutations in FIP1L1 and NRIP1. Our data highlights mutational variation across demographic cohorts. These patterns are vital to future studies into identifying diagnostic markers or therapeutic targets. - Source: PubMed
Publication date: 2026/01/15
Kolluru SowmyaHorio NicoleTorbenson ElijahHsia BeauTauseef Abubakar - Nucleated erythroid cells (NECs) have emerged as active participants in immune responses in addition to their canonical oxygen transport function. The subpopulations and immune heterogeneity of chick erythroid cells (ch-ECs) upon infection have not been fully characterized. Single-cell RNA sequencing (scRNA-seq) was used to profile ch-ECs in chicks infected with avian pathogenic (APEC). Unsupervised clustering uncovered ten distinct ch-EC subpopulations (C1-C10), with significant compositional shifts between infected and control groups. Pseudotime analysis revealed a developmental continuum: C1, C3, C5, and C9 as early progenitors; C2, C4, C6, C7, and C10 as mature erythroid cells; and C8 as a naive population. We revealed 62 immune-related genes, including protein kinases and heat shock proteins, and subpopulation-specific differentially expressed genes (DEGs) linked to immune functions. SCENIC analysis revealed Fos, Srf, and Stat3 as key transcription factors with elevated regulon activity and specificity following infection. Subpopulations C2, C4, C6, and C7, which exhibited marked abundance changes, were scrutinized for immune relevance through integrated multi-omics analysis. Immune-related genes including , , , , , , , and were identified. Enrichment analysis indicated activation of the MHC class I antigen presentation pathway, while pathways such as Mitogen-Activated Protein Kinase (MAPK) signaling, NOD-like receptor (NLR) signaling, and the heat shock response were found to be suppressed. In conclusion, this study delineates the immune gene repertoire and signaling networks of ch-ECs during APEC infection, offering new perspectives on NEC immunoregulatory functions. - Source: PubMed
Publication date: 2026/01/07
Cai FujuanWang XianjueWang ChunzhiWang YuzhenZhang Wenguang