AJAP1

Last update 08 May 2025

Basic Info

Synonyms

Adherens junction-associated protein 1, adherens junctions associated protein 1, AJAP1

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Introduction

Plays a role in cell adhesion and cell migration.

100 Clinical Results associated with AJAP1

100 Translational Medicine associated with AJAP1

0 Patents (Medical) associated with AJAP1

Literatures (Medical) associated with AJAP1

01 Sep 2024·Alzheimer's & Dementia

A genome‐wide association meta‐analysis of all‐cause and vascular dementia

Article

Author: Fongang, Bernard

AbstractINTRODUCTIONDementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome‐wide association studies (GWAS) focus on AD.METHODSWe conducted a GWAS of all‐cause dementia (ACD) and examined the genetic overlap with VaD. Our dataset includes 800,597 individuals, with 46,902 and 8702 cases of ACD and VaD, respectively. Known AD loci for ACD and VaD were replicated. Bioinformatic analyses prioritized genes that are likely functionally relevant and shared with closely related traits and risk factors.RESULTSFor ACD, novel loci identified were associated with energy transport (SEMA4D), neuronal excitability (ANO3), amyloid deposition in the brain (RBFOX1), and magnetic resonance imaging markers of small vessel disease (SVD; HBEGF). Novel VaD loci were associated with hypertension, diabetes, and neuron maintenance (SPRY2, FOXA2, AJAP1, and PSMA3).DISCUSSIONOur study identified genetic risks underlying ACD, demonstrating overlap with neurodegenerative processes, vascular risk factors, and cerebral SVD.Highlights

We conducted the largest genome‐wide association study of all‐cause dementia (ACD) and vascular dementia (VaD).

Known genetic variants associated with AD were replicated for ACD and VaD.

Functional analyses identified novel loci for ACD and VaD.

Genetic risks of ACD overlapped with neurodegeneration, vascular risk factors, and cerebral small vessel disease.

12 Jul 2024·Science Advances

Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release

Article

Author: Hernández-García, Andrés ; Strømgaard, Kristian ; Shigemoto, Ryuichi ; Bettler, Bernhard ; Rosenfeld, Jill A ; Chen, Li-Yuan ; Früh, Simon ; Stawarski, Michal ; Cutrì, Maria R ; Besseyrias, Valérie ; Trovò, Luca ; Tafti, Mehdi ; Scott, Daryl A ; Boudkkazi, Sami ; Ona, Herda ; Lalani, Seema R ; van Bon, Bregje ; Sereikaite, Vita ; Sherr, Elliott H ; Scheiffele, Peter ; Le Monnier, Elodie ; Ulrich, Daniel ; Schwenk, Jochen ; Argilli, Emanuela ; Gassmann, Martin ; Koppensteiner, Peter ; Fakler, Bernd ; Azamian, Mahshid S ; Kamsteeg, Erik-Jan ; Pilotta, Alba ; Zhao, Xiaonan ; Vogel, Tiphanie P ; Fritzius, Thorsten ; Innocenti, Sabrina M ; Chen, Ziyang ; Iascone, Maria ; Rem, Pascal D ; Fernandez-Fernandez, Diego

Adherens junction–associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), which inhibit neurotransmitter release at most synapses in the brain. Here, we show that AJAP1 is selectively expressed in dendrites and trans-synaptically recruits GBRs to presynaptic sites of neurons expressing AJAP1. We have identified several monoallelic AJAP1 variants in individuals with epilepsy and/or neurodevelopmental disorders. Specifically, we show that the variant p.(W183C) lacks binding to GBRs, resulting in the inability to recruit them. Ultrastructural analysis revealed significantly decreased presynaptic GBR levels in Ajap1−/− and Ajap1W183C/+ mice. Consequently, these mice exhibited reduced GBR-mediated presynaptic inhibition at excitatory and inhibitory synapses, along with impaired synaptic plasticity. Our study reveals that AJAP1 enables the postsynaptic neuron to regulate the level of presynaptic GBR-mediated inhibition, supporting the clinical relevance of loss-of-function AJAP1 variants.

01 Dec 2023·Molecular Carcinogenesis

A novel hypoxia‐stimulated lncRNA HIF1A‐AS3 binds with YBX1 to promote ovarian cancer tumorigenesis by suppressing p21 and AJAP1 transcription

Article

Author: Wang, Changyu ; Su, Yue ; Kang, Xiaoyan ; Lv, Xiaofeng ; Xie, Wan ; Guo, Lili ; Liu, Yuhuan ; Wu, Xue ; Meng, Silu ; Liu, Xiaoyu ; Wang, Weijiao

AbstractHypoxia is characteristic of the ovarian tumor (OC) microenvironment and profoundly affects tumorigenesis and therapeutic response. Long noncoding RNAs (lncRNAs) play various roles in tumor progression; however, the characteristics of lncRNAs in pathological responses of the OC microenvironment are not entirely understood. Through high‐throughput sequencing, lncRNA expression in hypoxia (1% O2) and normoxia (21% O2) SKOV3 cells was explored and analyzed. The 5′‐ and 3′‐rapid amplification of complementary DNA ends was used to detect the full length of the novel HIF1A‐AS3 transcript. Real‐time quantitative polymerase chain reaction was used to assess HIF1A‐AS3 expression in OC cells and tissues. In vitro and in vivo evaluations of the biological functions of hypoxic HIF1A‐AS3 were conducted. To clarify the underlying mechanisms of HIF1A‐AS3 in hypoxic OC, a dual‐luciferase assay, chromatin immunoprecipitation, RNA pull‐down, RNA immunoprecipitation, and RNA‐sequencing were used. We used high‐throughput sequencing to investigate a novel lncRNA, HIF1A‐AS3, as a hypoxic candidate significantly elevated in OC cells/tissues. HIF1A‐AS3 was predominantly localized in the nucleus and promoted in vitro and in vivo OC growth and tumorigenesis. Hypoxia‐inducible factor 1α bound to hypoxia response elements in the HIF1A‐AS3 promoter region and stimulated its expression in hypoxia. Under hypoxia, HIF1A‐AS3 directly integrated with Y‐Box binding protein 1 and inhibited its ability to bind to the promoters of p21 and AJAP1 to repress their transcriptional activity, thereby promoting hypoxic OC progression. Our results revealed the crucial role and mechanism of the novel hypoxic HIF1A‐AS3 in the oncogenesis of OC. The novel HIF1A‐AS3 could be a crucial biomarker and therapeutic target for future OC treatments.

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AJAP1

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