ArticleBMC genomics2009
Prediction of disease-related mutations affecting protein localization.
Article in BMC genomics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 83 citations in OpenAlex.
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- Importins recognize the winged-helix fold of ETS transcription factors to mediate nuclear import.bioRxiv : the preprint server for biology · 2026Article
- Semi-supervised Bayesian integration of multiple spatial proteomics datasets.PLoS computational biology · 2025Article
- Learning Universal Representations of Intermolecular Interactions with ATOMICA.bioRxiv : the preprint server for biology · 2025Article
- Prediction of protein subcellular localization in single cells.Nature methods · 2025Article
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- The small tumor antigen of Merkel cell polyomavirus accomplishes cellular transformation by uniquely localizing to the nucleus despite the absence of a known nuclear localization signal.Virology journal · 2024Article
- Bento: a toolkit for subcellular analysis of spatial transcriptomics data.Genome biology · 2024Article
- Pervasive mislocalization of pathogenic coding variants underlying human disorders.bioRxiv : the preprint server for biology · 2023Article
- Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.Journal of medical genetics · 2023Article
- Subcellular location of source proteins improves prediction of neoantigens for immunotherapy.The EMBO journal · 2022Article
- Semi-Supervised Non-Parametric Bayesian Modelling of Spatial Proteomics.The annals of applied statistics · 2022Article
- Inferring differential subcellular localisation in comparative spatial proteomics using BANDLE.Nature communications · 2022Article
- Translocating proteins compartment-specifically alter the fate of epithelial-mesenchymal transition in a compartmentalized Boolean network model.NPJ systems biology and applications · 2022Article
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- Bioinformatic Analysis of Temporal and Spatial Proteome Alternations During Infections.Frontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEukaryotic cells contain numerous compartments, which have different protein constituents. Proteins are typically directed to compartments by short peptide sequences that act as targeting signals. Translocation to the proper compartment allows a protein to form the necessary interactions with its partners and take part in biological networks such as signalling and metabolic pathways. If a protein is not transported to the correct intracellular compartment either the reaction performed or information carried by the protein does not reach the proper site, causing either inactivation of central reactions or misregulation of signalling cascades, or the mislocalized active protein has harmful effects by acting in the wrong place.
resultsNumerous methods have been developed to predict protein subcellular localization with quite high accuracy. We applied bioinformatics methods to investigate the effects of known disease-related mutations on protein targeting and localization by analyzing over 22,000 missense mutations in more than 1,500 proteins with two complementary prediction approaches. Several hundred putative localization affecting mutations were identified and investigated statistically.
conclusionAlthough alterations to localization signals are rare, these effects should be taken into account when analyzing the consequences of disease-related mutations.
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