Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Elucidating the roles of SHANK3 and FXR in the autism interactome  

Over 30 distinct genes have been identified as either causing or contributing to the cause of autism. To better understand how such a diverse array of genes can cause similar ASD phenotypes, a search was conducted for the binding partners of proteins encoded by autism-associated genes and an autism protein interaction network (an "interactome") was developed that contains over 900 protein interactions. This interactome revealed three "hub" proteins that are centers for interaction: FXR1 (related to Fragile X Mental Retardation Protein), SHANK3, and TSC1 (implicated in tuberous sclerosis). Moreover, SHANK3 interacts with two distinct classes of proteins: one involved in synapse structure, the other involved in RNA metabolism and translation. To gain insight into key mechanisms underlying ASD pathogenesis, this research will identify and characterize the native SHANK3 complexes at the synapse using a mouse model. Detailed behavioral and biochemical studies will establish a functional relationship between SHANK3 and FXR proteins and provide a foundation for detailed mechanistic studies that should benefit a broad population of ASD patients. Project Status


Funder National Institutes of Health
Fiscal Year Funding $403,492.00
Project Number 1R01NS070302-01
Principal Investigator Zoghbi, Huda
Received ARRA Funding? Yes
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Strategic Plan Objective New! Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.
Federal or Private? Federal
Institution Baylor College of Medicine
State/Country Texas
Web Link 1 Elucidating the roles of SHANK3 and FXR in the autism interactome (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Elucidating the roles of SHANK3 and FXR in the autism interactome | $396,509.00 | 2010 | 5R01NS070302-02