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PMID:26999814
| Citation |
Tuand, K, Stijnen, P, Volders, K, Declercq, J, Nuytens, K, Meulemans, S and Creemers, J (2016) Nuclear Localization of the Autism Candidate Gene Neurobeachin and Functional Interaction with the NOTCH1 Intracellular Domain Indicate a Role in Regulating Transcription. PLoS ONE 11:e0151954 |
|---|---|
| Abstract |
Neurobeachin (NBEA) is an autism spectrum disorders (ASD) candidate gene. NBEA deficiency affects regulated secretion, receptor trafficking, synaptic architecture and protein kinase A (PKA)-mediated phosphorylation. NBEA is a large multidomain scaffolding protein. From N- to C-terminus, NBEA has a concanavalin A-like lectin domain flanked by armadillo repeats (ACA), an A-kinase anchoring protein domain that can bind to PKA, a domain of unknown function (DUF1088) and a BEACH domain, preceded by a pleckstrin homology-like domain and followed by WD40 repeats (PBW). Although most of these domains mediate protein-protein interactions, no interaction screen has yet been performed. |
| Links |
PubMed PMC4801420 Online version:10.1371/journal.pone.0151954 |
| Keywords |
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Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0005634: nucleus |
ECO:0000314: |
C |
Fig 3 Nuclear localization of NBEA. |
complete | ||||
Notes
See also
References
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