First identification of ITM2B interactome in the human retina View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-08-26

AUTHORS

J. Wohlschlegel, M. Argentini, C. Michiels, C. Letellier, V. Forster, C. Condroyer, Z. He, G. Thuret, C. Zeitz, T. Léger, I. Audo

ABSTRACT

Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, we performed quantitative proteomics of ITM2B interactome of the human retina. Overall, 457 ITM2B partners were identified with 8 of them involved in visual transduction. In addition, bulk Gene Ontology analyses showed that many ITM2B partners are involved in several other biological functions, such as microtubule organization, protein translation and interestingly, mitochondrial homeostasis. These data represent the first report of the ITM2B interactome in the human retina and may serve as a valuable inventory of new potential ITM2B partners for future investigations of ITM2B physiological functions and dysfunctions. More... »

PAGES

17210

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41598-021-96571-6

DOI

http://dx.doi.org/10.1038/s41598-021-96571-6

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1140661016

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/34446781


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36 schema:description Integral Membrane Protein 2 B (ITM2B) is a type II ubiquitous transmembrane protein which role remains unclear. ITM2B mutations have been associated with different disorders: mutations leading to longer mutant proteins have been reported in two distinct Alzheimer-like autosomal dominant disorders with early-onset progressive dementia and cerebellar ataxia. Both disorders share neurological features including severe cerebral amyloid angiopathy, non-neuritic plaques, and fibrillary tangles as in Alzheimer disease. Our group reported a missense mutation in ITM2B, in an unusual retinal dystrophy with no dementia. This finding suggests a specific role of ITM2B in the retina. As the identification of retinal-specific ITM2B partners could bring new insights into the cellular functions of ITM2B, we performed quantitative proteomics of ITM2B interactome of the human retina. Overall, 457 ITM2B partners were identified with 8 of them involved in visual transduction. In addition, bulk Gene Ontology analyses showed that many ITM2B partners are involved in several other biological functions, such as microtubule organization, protein translation and interestingly, mitochondrial homeostasis. These data represent the first report of the ITM2B interactome in the human retina and may serve as a valuable inventory of new potential ITM2B partners for future investigations of ITM2B physiological functions and dysfunctions.
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45 ITM2B
46 Inventory
47 addition
48 amyloid
49 analysis
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51 autosomal dominant disorder
52 biological functions
53 cellular functions
54 cerebellar ataxia
55 cerebral amyloid
56 data
57 dementia
58 different disorders
59 disease
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62 dysfunction
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65 features
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67 first identification
68 first report
69 function
70 future investigations
71 group
72 homeostasis
73 human retina
74 identification
75 insights
76 interactome
77 investigation
78 microtubule organization
79 missense mutations
80 mitochondrial homeostasis
81 mutant proteins
82 mutations
83 neurological features
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85 non-neuritic plaques
86 ontology analysis
87 organization
88 partners
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92 protein
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