RNA binding protein fox-1 homolog 1; ataxin-2-binding protein 1; Fox-1 homolog A; hexaribonucleotide-binding protein 1 (RBFOX1, A2BP, A2BP1, FOX1, HRNBP1)
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Function
- RNA-binding protein
- regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements
- regulates alternative splicing of tissue-specific exons & of differentially spliced exons during erythropoiesis
- binds to the C-terminus of ATXN2
Structure
contains 1 RRM domain (RNA recognition motif)
Compartment
Alternative splicing
named isoforms=5
Expression
- predominantly expressed in muscle & brain
Pathology
- RBFOX1 localizes around amyloid plaques & reduced expression of RBFOX1 correlates with higher amyloid-beta burden & greater cognitive impairment in preclinical & early Alzheimer's disease[2]
More general terms
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9NWB1.html
- ↑ 2.0 2.1 Raghavan NS, Dumitrescu L, Mormino E et al Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease. JAMA Neurol. Published online June 22, 2020. PMID: https://www.ncbi.nlm.nih.gov/pubmed/32568366 Free PMC article https://jamanetwork.com/journals/jamaneurology/fullarticle/2767374