DisProt 2023_06 - New thematic dataset of Intrinsically Disordered Proteins related to Neurodevelopmental disorders (NDDs)

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.

Written on Jun 27, 2023, by Maria Cristina Aspromonte and Victoria Nugnes.

Release featuring a thematic dataset of NDDs-related proteins

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).

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.

Examples from “NDDs-related proteins” dataset:

  • 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.
  • 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.

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).

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.