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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 307646.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Characterization of FBX25, encoding a novel brain-expressed F-box protein
Authors:Hagens, Olivier; Minina, Eleonora; Schweiger, Susann; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Language:English
Date of Publication (YYYY-MM-DD):2006-01-01
Title of Journal:Biochimica et Biophysica Acta (BBA) - General Subjects
Journal Abbrev.:BBA
Volume:1760
Issue / Number:1
Start Page:110
End Page:118
Copyright:© 2005 Elsevier B.V. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description:F-box proteins (FBPs) confer substrate specificity to the SCF-type (Skp1/Cul1/FBP) of ubiquitin ligase complexes through their F-box. Multiple FBPs have been predicted, but experimental evidence is lagging. We report on the predicted human FBP hFBX25 which we found to be disrupted in a mentally retarded translocation carrier suffering from epileptic seizures. We investigated hFBX25′s genomic organization and established hFBX25 as an FBP by verifying its interaction with Skp1 and Cul1. In the process, we identified an atypical serine residue in the F-box which is crucial for the hFBX25-Skp1 binding. We determined hFBX25′s subcellular localization. We found strong transcription in human brain. In mouse embryonic sections, mFbx25 shows predominantly neuronal expression and in adult mouse brain, expression is confined to the hippocampus, the cerebral cortex and the Purkinje cell layer. Interestingly, aberrations in the ubiquitin pathway have been linked to neurological conditions.
Free Keywords:FBX25; F-box protein; SCF; Neuronal expression; Ubiquitin pathway
Comment of the Author/Creator:Corresponding author:E.Minina: Tel.: +49 30 8413 1293; fax: +49 30 8413 1383.
Present address: GSF-National Research Center for Environment and Health, Institute of Developmental Genetics, Neuherberg, Germany.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
Identifiers:ISSN:0926-6577
DOI:10.1016/j.bbagen.2005.09.018
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