Recombinant Human RNA binding protein fox-1 homolog 1 (RBFOX1)

1. RBFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. PMID: 29789616
2. Low RBFOX1 expression is associated with aberrant splicing in Type 1 diabetes. PMID: 28512194
3. Data show that while RBFOX1 and RBFOX2 do not mediate neuron-specific processing of UBE3A-ATS, these proteins play important roles in developing neurons and are not completely functionally redundant. PMID: 27146458
4. RBFOX1 - strong candidate gene, associated with clinical features of Depression (e.g., earlier age at onset and recurrent and more severe forms of Depression). Gene expression patterns in the prefrontal and anterior cingulate cortex most closely matched the genetic findings. PMID: 28969442
5. Our findings suggested rs17648524 (intronic RBFOX1 gene) and rs7084402 (7.5kb 5' of the BICC1 gene) showed gender-specific associations with high myopia in the Han Chinese. PMID: 28085524
6. Report a 1.8 A X-ray structure of the free Fox-1 containing six distinct monomers. We use this and the nuclear magnetic resonance (NMR) structure of the Fox-1 protein/RNA complex for molecular dynamics (MD) analyses of the structured hydration. The individual monomers of the X-ray structure show diverse hydration patterns, however, MD excellently reproduces the most occupied hydration sites. PMID: 28505313
7. Copy-number variations are enriched for RBFOX1 and other neurodevelopmental genes in children with developmental coordination disorder. PMID: 27489308
8. We present a joint atomistic molecular dynamics (MD) and experimental study of two RRM-containing proteins bound with their single-stranded target RNAs, namely the Fox-1 and SRSF1 complexes.The simulations predict unanticipated specific participation of Arg142 at the protein-RNA interface of the SRFS1 complex, which is subsequently confirmed by NMR and ITC measurements PMID: 27193998
9. FGF12, RBFOX1, and MIR302F could be important in human heterotaxy, because they were noted in multiple cases. Further investigation into genes involved in the NODAL, BMP, and WNT body patterning pathways and into the dosage effects of FGF12, RBFOX1, and MIR302F is warranted. PMID: 27637763
10. Data indicate that multiple rare, coding variants in RBFOX1 protein associated with reduced systolic blood pressure (SBP). PMID: 28346479
11. study identifies regulation of RNA splicing by RBFox1 as an important player in transcriptome reprogramming during heart failure that influence pathogenesis of the disease PMID: 26619120
12. The SNP rs1478697 in A2BP1 may be associated with antipsychotic induced weight gain induced by 8-week treatment with olanzapine. PMID: 26092620
13. This study underlines that tightly regulated splicing is necessary for unconstrained cardiac function and renders the splicing regulator rbfox1 an interesting target for investigation in human heart failure and cardiomyopathy. PMID: 26116573
14. Cytoplasmic Rbfox1 target mRNAs were enriched in genes involved in cortical development and autism PMID: 26687839
15. The Genome-wide association study showed a significant association for a variant within the RBFOX1 gene with generalized anxiety disorder. PMID: 26274327
16. This study suggested that exonic RBFOX1 deletions are involved in the broad spectrum of focal and generalized epilepsies. PMID: 26174448
17. RBFOX proteins can facilitate the splicing of micro-exons. We also found that PTBP1 likely regulates the inclusion of micro-exons, possibly by repressing the inclusion of micro-exons that are enhanced by RBFOX proteins and other splicing factors.[RBFOX] PMID: 25524026
18. Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy PMID: 26188062
19. Reduced RBFOX1 activity in myotonic dystrophy type 1 tissues may amplify several of the splicing alterations caused by the deficiency in MBNL1. PMID: 25211016
20. RBFOX1 promotes the skipping of APP exon 7, but not the inclusion of exon 8. PMID: 25125370
21. Aberrantly expressed FOX genes and their downstream targets are involved in the pathogenesis of HL via deregulation of B-cell differentiation and may represent useful diagnostic markers and/or therapeutic targets. PMID: 25043849
22. Data indicate that RNA binding protein RBFOX1 gene expression was detected in lymphoblastoid cell lines but not in lymphocytes. PMID: 24938762
23. Our results support the earlier findings of A2BP1 and TGFB1 being osteoarthritis susceptibility genes and provide evidence of a possible gene-gene interaction in the genetic influence on hand OA predisposition. PMID: 24825461
24. RBFOX1 regulates expression of large genetic networks during early neuronal development, and haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, and epilepsy. PMID: 24290388
25. Exome sequencing of 242 rolandic epilepsy patients revealed two novel probably deleterious variants in RBFOX1, a frameshift mutation (p.A233Vfs*74) and a hexanucleotide deletion (p.A299_A300del), and a novel nonsense mutation in RBFOX3 (p.Y287*). PMID: 24039908
26. Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error. PMID: 23474815
27. Data indicate that reintroduction of A2BP1 or Myt1L in glioblastoma multiforme (GBM) cell lines and glioma stem cells profoundly inhibited tumorigenesis. PMID: 23918370
28. Loss of RBFOX1 may explain the anomalous splicing activity associated with colorectal cancer. PMID: 23286373
29. Variable expressivity, incomplete penetrance, and heterogeneous cosegregation patterns suggest that RBFOX1 deletions act as susceptibility factor in a genetically complex etiology of idiopathic generalized epilepsy PMID: 23350840
30. RBFOX1 regulates RNA splicing and transcriptional networks in human neuronal development. PMID: 22730494
31. hnRNP H1 and TFG modulate the splicing activity of RBFOX1/2. PMID: 22184459
32. the A2BP1 gene might play a pivotal role for susceptibility to Primary biliary cirrhosis PMID: 20153395
33. Studies indicate that the Fox-1 family specifically recognizes the (U)GCAUG stretch in regulated exons or in flanking introns, and either promotes or represses target exons. PMID: 19688295
34. Fox-1 and Fox-2 isoforms specifically activate splicing of neuronally regulated exons, which requires UGCAUG enhancer elements PMID: 16260614
35. These results demonstrate the unusual molecular mechanism of sequence-specific RNA recognition by Fox-1, which is exceptional in its high affinity for a defined but short sequence element. PMID: 16362037
36. Fox-1 and Fox-2 splicing factors have roles in alternative splicing of protein 4.1R PMID: 16537540
37. These results define a critical role for Fox-1 and Fox-2 proteins in exon 4 inclusion of calcitonin/CGRP pre-mRNA and establish a regulatory network that controls the fate of exon 4. PMID: 17101796
38. A2BP1 may affect susceptibility or cause autism in a subset of patients PMID: 17503474
39. Fox-1/Fox-2 proteins block prespliceosome complex formation at two distinct steps through binding to two functionally important UGCAUG elements. PMID: 18573872
40. predict thousands of Fox-1/2 targets with conserved binding sites, at a false discovery rate of approximately 24%, including many validated experimentally, suggesting a surprisingly extensive splicing regulatory networks PMID: 18794351
41. Five single-nucleotide polymorphisms (SNPs) of ataxin 2 binding protein 1 had a likelihood of association with hand osteoarthritis. PMID: 19508968

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HGNC: 18222

OMIM: 605104

KEGG: hsa:54715

STRING: 9606.ENSP00000309117

UniGene: Hs.459842