Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

79026

Name

AHNAK

Synonymous

AHNAKRS;AHNAK nucleoprotein;AHNAK;AHNAK nucleoprotein

Definition

AHNAK-related|desmoyokin|neuroblast differentiation-associated protein AHNAK

Position

11q12.2

Gene type

protein-coding

Title

Abstract

Ahnak functions as a tumor suppressor via modulation of TGFbeta/Smad signaling pathway.

We provide detailed mechanisms of Ahnak-mediated potentiation of transforming growth factor beta (TGFbeta) signaling, which leads to a negative regulation of cell growth. We show that Smad3 interacts with Ahnak through MH2 domain and that Ahnak stimulates Smad3 localization into nucleus leading to potentiating TGFbeta-induced transcriptional activity of R-Smad. Moreover, overexpression of Ahnak resulted in growth retardation and cell cycle arrest through downregulation of c-Myc and cyclin D1/D2. We describe results from analyses of Ahnak(-/-) mouse model expressing middle T antigen in a mammary gland-specific manner (MMTV(Tg/+)Ahnak(-/-)), which showed significantly progressed hyperplasia of mammary glands compared with MMTV(Tg/+)Ahnak(+/+). Finally, we screened multiple human breast cancer tissues and showed that the expression of Ahnak in cancer tissues is lower than that in control tissues by 50%. Taken together, these data indicate that Ahnak mediates a negative regulation of cell growth and acts as novel tumor suppressor through potentiation of TGFbeta signaling.

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