Q9NWB1 · RFOX1_HUMAN
- ProteinRNA binding protein fox-1 homolog 1
- GeneRBFOX1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids397 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
RNA-binding protein that regulates alternative splicing events by binding to 5'-UGCAUGU-3' elements. Regulates alternative splicing of tissue-specific exons and of differentially spliced exons during erythropoiesis.
Features
Showing features for site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Site | 118 | Interaction with RNA | ||||
Sequence: R | ||||||
Site | 126 | Interaction with RNA | ||||
Sequence: F | ||||||
Site | 127 | Interaction with RNA | ||||
Sequence: R | ||||||
Site | 151 | Interaction with RNA | ||||
Sequence: N | ||||||
Site | 156 | Interaction with RNA | ||||
Sequence: K | ||||||
Site | 160 | Interaction with RNA | ||||
Sequence: F | ||||||
Site | 184 | Interaction with RNA | ||||
Sequence: R | ||||||
Site | 194 | Interaction with RNA | ||||
Sequence: R |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | cytoplasmic stress granule | |
Cellular Component | nuclear stress granule | |
Cellular Component | nucleus | |
Cellular Component | trans-Golgi network | |
Molecular Function | mRNA binding | |
Molecular Function | RNA binding | |
Biological Process | mRNA processing | |
Biological Process | nervous system development | |
Biological Process | regulation of alternative mRNA splicing, via spliceosome | |
Biological Process | RNA splicing | |
Biological Process | RNA transport |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameRNA binding protein fox-1 homolog 1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9NWB1
- Secondary accessions
Proteomes
Organism-specific databases
Disease & Variants
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 120 | Reduces RNA-binding affinity 160-fold. | ||||
Sequence: H → A | ||||||
Mutagenesis | 126 | Reduces RNA-binding affinity 1500-fold. | ||||
Sequence: F → A, I, or R | ||||||
Mutagenesis | 126 | Reduces RNA-binding affinity 15-fold. | ||||
Sequence: F → H or W | ||||||
Mutagenesis | 126 | No effect on RNA-binding. | ||||
Sequence: F → Y | ||||||
Mutagenesis | 158 | Reduces RNA-binding affinity 700-fold. | ||||
Sequence: F → A | ||||||
Mutagenesis | 160 | Reduces RNA-binding affinity 30'000-fold. | ||||
Sequence: F → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 759 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000081480 | 1-397 | RNA binding protein fox-1 homolog 1 | |||
Sequence: MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYAGTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVYQDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY | ||||||
Modified residue | 317 | Asymmetric dimethylarginine | ||||
Sequence: R | ||||||
Modified residue | 388 | Omega-N-methylarginine | ||||
Sequence: R |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Predominantly expressed in muscle and brain.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Binds to the C-terminus of ATXN2.
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 1-121 | Disordered | ||||
Sequence: MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHV | ||||||
Compositional bias | 55-119 | Polar residues | ||||
Sequence: QTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRL | ||||||
Domain | 117-193 | RRM | ||||
Sequence: KRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIFNERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATA |
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 5 isoforms produced by Alternative splicing.
Q9NWB1-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length397
- Mass (Da)42,784
- Last updated2008-02-05 v2
- ChecksumEA96AA7B6E144D80
Q9NWB1-2
- Name2
- SynonymsGamma
Q9NWB1-3
- Name3
- Synonyms1
- Differences from canonical
- 226-253: GTVLLCQANQEGSSMYSAPSSLVYTSAM → V
Q9NWB1-4
- Name4
- SynonymsAlpha
Q9NWB1-5
- Name5
- SynonymsBeta
Computationally mapped potential isoform sequences
There are 18 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A6Q8PFM4 | A0A6Q8PFM4_HUMAN | RBFOX1 | 415 | ||
A0A6Q8PGE0 | A0A6Q8PGE0_HUMAN | RBFOX1 | 354 | ||
A0A6Q8PHA3 | A0A6Q8PHA3_HUMAN | RBFOX1 | 351 | ||
A0A6Q8PH77 | A0A6Q8PH77_HUMAN | RBFOX1 | 374 | ||
F8VZG9 | F8VZG9_HUMAN | RBFOX1 | 466 | ||
F8VZY7 | F8VZY7_HUMAN | RBFOX1 | 263 | ||
A0A286YEU2 | A0A286YEU2_HUMAN | RBFOX1 | 582 | ||
A0A286YFF2 | A0A286YFF2_HUMAN | RBFOX1 | 201 | ||
H3BM62 | H3BM62_HUMAN | RBFOX1 | 74 | ||
F8VR27 | F8VR27_HUMAN | RBFOX1 | 262 | ||
F8VRS4 | F8VRS4_HUMAN | RBFOX1 | 391 | ||
B7Z1U7 | B7Z1U7_HUMAN | RBFOX1 | 425 | ||
A0A804HJM2 | A0A804HJM2_HUMAN | RBFOX1 | 376 | ||
A0A804HKG7 | A0A804HKG7_HUMAN | RBFOX1 | 349 | ||
A0A087X2B1 | A0A087X2B1_HUMAN | RBFOX1 | 375 | ||
I3L1D4 | I3L1D4_HUMAN | RBFOX1 | 372 | ||
A0A994J531 | A0A994J531_HUMAN | RBFOX1 | 377 | ||
F5H0M1 | F5H0M1_HUMAN | RBFOX1 | 380 |
Sequence caution
Features
Showing features for alternative sequence, compositional bias, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_030874 | 1-9 | in isoform 2, isoform 4 and isoform 5 | |||
Sequence: MNCEREQLR → MLASQGVLLHPYGVPMIVPAAPYLPGLIQ | ||||||
Compositional bias | 55-119 | Polar residues | ||||
Sequence: QTTVPEHTLNLYPPAQTHSEQSPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRL | ||||||
Sequence conflict | 92 | in Ref. 4; BAA91472 | ||||
Sequence: T → A | ||||||
Alternative sequence | VSP_030875 | 226-253 | in isoform 3 | |||
Sequence: GTVLLCQANQEGSSMYSAPSSLVYTSAM → V | ||||||
Alternative sequence | VSP_030876 | 302-310 | in isoform 2, isoform 4 and isoform 5 | |||
Sequence: DGFYGADIY → EPVYGNKLLQ | ||||||
Alternative sequence | VSP_030877 | 332-397 | in isoform 5 | |||
Sequence: SYGRVYAADPYHHALAPAPTYGVGAMNAFAPLTDAKTRSHADDVGLVLSSLQASIYRGGYNRFAPY → RNQFVFVAADEISCNTSAVTDEFMLPTPTTTHLLQPPPTALVP | ||||||
Alternative sequence | VSP_030878 | 358-383 | in isoform 4 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF107203 EMBL· GenBank· DDBJ | AAF78291.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AF229057 EMBL· GenBank· DDBJ | AAL71904.1 EMBL· GenBank· DDBJ | mRNA | ||
AF094849 EMBL· GenBank· DDBJ | AAL83405.1 EMBL· GenBank· DDBJ | mRNA | ||
AF109106 EMBL· GenBank· DDBJ | AAL83406.1 EMBL· GenBank· DDBJ | mRNA | ||
AF109120 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109107 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109108 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109109 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109110 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109111 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109112 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109113 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109114 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109115 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109116 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109117 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109118 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109119 EMBL· GenBank· DDBJ | AAL83407.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109120 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109107 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109108 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109109 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109110 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109111 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109112 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109113 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109114 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109115 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109116 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109117 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109119 EMBL· GenBank· DDBJ | AAL83408.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109120 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109107 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109108 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109109 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109110 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109111 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109112 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109113 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109114 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109115 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109116 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109117 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF109119 EMBL· GenBank· DDBJ | AAL83409.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF448859 EMBL· GenBank· DDBJ | AAP41925.1 EMBL· GenBank· DDBJ | mRNA | ||
AK001027 EMBL· GenBank· DDBJ | BAA91472.1 EMBL· GenBank· DDBJ | mRNA | ||
AC005774 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC006075 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC006112 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC007012 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC007217 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC007222 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC007223 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC009135 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC022206 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC023829 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC027683 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC079410 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC125796 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC131390 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC113691 EMBL· GenBank· DDBJ | AAI13692.1 EMBL· GenBank· DDBJ | mRNA |