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| 1 | +--- |
| 2 | +layout: post |
| 3 | +title: 'DisProt 2023_06 - New thematic dataset of Intrinsically Disordered Proteins related to Neurodevelopmental disorders (NDDs)' |
| 4 | +date: 2023-06-27 10:00:00 +0200 |
| 5 | +author: "Maria Cristina Aspromonte and Victoria Nugnes" |
| 6 | +headline: 'DisProt curation team is proud to announce the new thematic dataset, “NDDs-related proteins”, with the important aim to define the role and abundance of intrinsically disordered proteins in Neurodevelopmental diseases.' |
| 7 | +topic: "disprot" |
| 8 | +--- |
| 9 | + |
| 10 | +# Release featuring a thematic dataset of NDDs-related proteins |
| 11 | + |
| 12 | +Neurodevelopmental Disorders (NDDs) include early-onset conditions such as intellectual disability, autism spectrum disorders and attention deficit. To construct the dataset, we selected proteins involved in NDDs, using [SFARI], [SysNDD] and [DBD] databases to fill the gap and explore the role of IDPs/IDRs. Our dataset includes various examples of proteins associated with NDDs ranging from histone proteins (e.g. Histone-lysine N-methyltransferase, [DP03446]), to transcription factors (e.g. Transcription initiation factor TFIID subunit 1, [DP03451]; Transcriptional repressor protein YY1, [DP02595]) and ion channels (e.g. Sodium channel protein type 2 subunit alpha, [DP03178]; Sodium channel protein type 9 subunit alpha, [DP03805]). |
| 13 | + |
| 14 | +Thanks to the effort of DisProt biocurators the new dataset features 312 proteins and more than 1213 pieces of evidence obtained from over 494 publications. |
| 15 | + |
| 16 | +Examples from “NDDs-related proteins” dataset: |
| 17 | + |
| 18 | +* Synaptic functional regulator FMR1 - [DP00134] is encoded by FMR1 gene, which is responsible for the most common form of Intellectual disability and Autism spectrum disorders (Fragile X syndrome). Experimental studies have highlighted the important role of their IDRs in the phase separation process and condensate formation. |
| 19 | +* Methyl-CpG-binding protein 2 - [DP00539] has a crucial role in neuronal development. MeCP2 is mostly unstructured protein and can adopt transitory secondary structures when binding to other molecules. |
| 20 | + |
| 21 | +## Overlap of “Cancer” and “NDDs” related proteins |
| 22 | + |
| 23 | +In this new dataset, 39 entries with a key role in neurodevelopmental disorders have been reported to be important in cancer pathology. Among these, for example, we can mention the Androgen Receptor protein ([DP00492]) or the Breast cancer type 1 susceptibility protein ([DP00238]). |
| 24 | + |
| 25 | +The DisProt team is grateful to the main NDDs-related proteins curators Emanuela Leonardi, Fatemeh Kordevani and Mariane Goncalves Kulik for their remarkable work and effort in the construction of this thematic dataset. |
| 26 | + |
| 27 | + |
| 28 | +[SFARI]: https://gene.sfari.org/ |
| 29 | +[SysNDD]: https://sysndd.dbmr.unibe.ch/ |
| 30 | +[DBD]: https://dbd.geisingeradmi.org/ |
| 31 | +[DP03446]: https://disprot.org/DP03446 |
| 32 | +[DP03451]: https://disprot.org/DP03451 |
| 33 | +[DP02595]: https://disprot.org/DP02595 |
| 34 | +[DP03178]: https://disprot.org/DP03178 |
| 35 | +[DP03805]: https://disprot.org/DP03805 |
| 36 | +[DP00134]: https://disprot.org/DP00134 |
| 37 | +[DP00539]: https://disprot.org/DP00539 |
| 38 | +[DP00492]: https://disprot.org/DP00492 |
| 39 | +[DP00238]: https://disprot.org/DP00238 |
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