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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)
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: nucleus (putative), cytoplasm
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]
Related
ataxin-2; spinocerebellar ataxia type 2 protein; trinucleotide repeat-containing gene 13 protein (ATXN2, ATX2, SCA2, TNRC13)
General
nuclear protein
RNA-binding protein
Properties
SIZE: entity length = 397 aa
MW = 43 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: RNP motif
NAME: RNP motif
SITE: 117-193
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
NAME: ribonucleoprotein-1 motif
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
ribonucleoprotein-2 motif
ribonucleoprotein-2 motif
FOR-BINDING-OF: ribonucleic acid
MOTIF: ribonucleoprotein-1 motif
ribonucleoprotein-2 motif
arginine residue {118}
phenylalanine residue {126}
arginine residue {127}
asparagine residue {151}
lysine residue {156}
phenylalanine residue {160}
arginine residue {184}
arginine residue {194}
Database Correlations
OMIM 605104
UniProt Q9NWB1
PFAM correlations
Entrez Gene 54715
Kegg hsa:54715
References
- UniProt :accession Q9NWB1
- 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: 32568366 Free PMC article
https://jamanetwork.com/journals/jamaneurology/fullarticle/2767374