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Publication : Essential requirement for IER3IP1 in B cell development.

First Author  Zhong X Year  2023
Journal  Proc Natl Acad Sci U S A Volume  120
Issue  46 Pages  e2312810120
PubMed ID  37934820 Mgi Jnum  J:354516
Mgi Id  MGI:7639642 Doi  10.1073/pnas.2312810120
Citation  Zhong X, et al. (2023) Essential requirement for IER3IP1 in B cell development. Proc Natl Acad Sci U S A 120(46):e2312810120
abstractText  In a forward genetic screen of mice with N-ethyl-N-nitrosourea-induced mutations for aberrant immune function, we identified animals with low percentages of B220(+) cells in the peripheral blood. The causative mutation was in Ier3ip1, encoding immediate early response 3 interacting protein 1 (IER3IP1), an endoplasmic reticulum membrane protein mutated in an autosomal recessive neurodevelopmental disorder termed Microcephaly with simplified gyration, Epilepsy and permanent neonatal Diabetes Syndrome (MEDS) in humans. However, no immune function for IER3IP1 had previously been reported. The viable hypomorphic Ier3ip1 allele uncovered in this study, identical to a reported IER3IP1 variant in a MEDS patient, reveals an essential hematopoietic-intrinsic role for IER3IP1 in B cell development and function. We show that IER3IP1 forms a complex with the Golgi transmembrane protein 167A and limits activation of the unfolded protein response mediated by inositol-requiring enzyme-1alpha and X-box binding protein 1 in B cells. Our findings suggest that B cell deficiency may be a feature of MEDS.
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