Version 5.4
| Homo sapiens Gene: RBFOX1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-13650.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | RBFOX1 | ||||||||||||||||||
| Gene Name | RNA binding protein, fox-1 homolog (C. elegans) 1 | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000078328 | ||||||||||||||||||
| Encoded Proteins |
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
RNA binding protein, fox-1 homolog (C. elegans) 1
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| Protein Structure | |||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 16:6019094-7713338 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | p13.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 42 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Cross-References | |||||||||||||||||||
| SwissProt | |||||||||||||||||||
| TrEMBL | F5H0M1 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 54715 | ||||||||||||||||||
| UniGene | Hs.459842 Hs.617542 | ||||||||||||||||||
| RefSeq | NM_001142333 NM_001142334 NM_018723 NM_145891 NM_145892 NM_145893 XM_005255388 XM_005255389 XM_005255391 XM_006720896 | ||||||||||||||||||
| HUGO | HGNC:18222 | ||||||||||||||||||
| OMIM | 605104 | ||||||||||||||||||
| CCDS | CCDS10531 CCDS10532 CCDS45405 CCDS55983 CCDS55984 | ||||||||||||||||||
| HPRD | 16091 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC005774 AC006075 AC006112 AC007012 AC007217 AC007222 AC007223 AC009135 AC022206 AC023829 AC027683 AC079410 AC125796 AC131390 | ||||||||||||||||||
| GenPept | |||||||||||||||||||
| RNA Seq Atlas | 54715 | ||||||||||||||||||