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Protein

RNA binding protein fox-1 homolog 1

Gene

RBFOX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

  • mRNA binding Source: GO_Central
  • protein C-terminus binding Source: UniProtKB
  • RNA binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing

Names & Taxonomyi

Protein namesi
Recommended name:
RNA binding protein fox-1 homolog 1
Alternative name(s):
Ataxin-2-binding protein 1
Fox-1 homolog A
Hexaribonucleotide-binding protein 1
Gene namesi
Name:RBFOX1
Synonyms:A2BP, A2BP1, FOX1, HRNBP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:18222. RBFOX1.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • nucleus Source: GO_Central
  • trans-Golgi network Source: UniProtKB

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi120H → A: Reduces RNA-binding affinity 160-fold. 1 Publication1
Mutagenesisi126F → A, I or R: Reduces RNA-binding affinity 1500-fold. 1 Publication1
Mutagenesisi126F → H or W: Reduces RNA-binding affinity 15-fold. 1 Publication1
Mutagenesisi126F → Y: No effect on RNA-binding. 1 Publication1
Mutagenesisi158F → A: Reduces RNA-binding affinity 700-fold. 1 Publication1
Mutagenesisi160F → A: Reduces RNA-binding affinity 30'000-fold. 1 Publication1

Organism-specific databases

DisGeNETi54715.
OpenTargetsiENSG00000078328.

Polymorphism and mutation databases

BioMutaiRBFOX1.
DMDMi166897979.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000814801 – 397RNA binding protein fox-1 homolog 1Add BLAST397

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei317Asymmetric dimethylarginineBy similarity1
Modified residuei388Omega-N-methylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ9NWB1.
MaxQBiQ9NWB1.
PaxDbiQ9NWB1.
PeptideAtlasiQ9NWB1.
PRIDEiQ9NWB1.

PTM databases

iPTMnetiQ9NWB1.
PhosphoSitePlusiQ9NWB1.

Expressioni

Tissue specificityi

Predominantly expressed in muscle and brain.

Gene expression databases

BgeeiENSG00000078328.
ExpressionAtlasiQ9NWB1. baseline and differential.
GenevisibleiQ9NWB1. HS.

Organism-specific databases

HPAiHPA040809.

Interactioni

Subunit structurei

Binds to the C-terminus of ATXN2.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei118Interaction with RNA1
Sitei126Interaction with RNA1
Sitei127Interaction with RNA1
Sitei151Interaction with RNA1
Sitei156Interaction with RNA1
Sitei160Interaction with RNA1
Sitei184Interaction with RNA1
Sitei194Interaction with RNA1

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein C-terminus binding Source: UniProtKB

Protein-protein interaction databases

BioGridi120107. 48 interactors.
IntActiQ9NWB1. 41 interactors.
MINTiMINT-2854938.
STRINGi9606.ENSP00000309117.

Structurei

Secondary structure

1397
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni110 – 112Combined sources3
Beta strandi117 – 123Combined sources7
Helixi130 – 138Combined sources9
Beta strandi143 – 151Combined sources9
Beta strandi154 – 165Combined sources12
Helixi166 – 176Combined sources11
Beta strandi187 – 190Combined sources4
Helixi204 – 206Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ERRNMR-A109-196[»]
2N82NMR-B109-208[»]
4ZKAX-ray1.80A/B/C/D/E/F109-208[»]
ProteinModelPortaliQ9NWB1.
SMRiQ9NWB1.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NWB1.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini117 – 193RRMPROSITE-ProRule annotationAdd BLAST77

Phylogenomic databases

eggNOGiKOG0125. Eukaryota.
ENOG4111WJT. LUCA.
GeneTreeiENSGT00390000013767.
HOVERGENiHBG000044.
InParanoidiQ9NWB1.
KOiK14946.
OMAiSSMYTAP.
PhylomeDBiQ9NWB1.
TreeFamiTF315942.

Family and domain databases

CDDicd12407. RRM_FOX1_like. 1 hit.
InterProiView protein in InterPro
IPR025670. Fox-1_C_dom.
IPR034237. FOX1_RRM.
IPR017325. RNA-bd_Fox-1.
IPR000504. RRM_dom.
PfamiView protein in Pfam
PF12414. Fox-1_C. 1 hit.
PF00076. RRM_1. 1 hit.
PIRSFiPIRSF037932. Ataxin_2_bd_A2BP. 1 hit.
SMARTiView protein in SMART
SM00360. RRM. 1 hit.
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiView protein in PROSITE
PS50102. RRM. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NWB1-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MNCEREQLRG NQEAAAAPDT MAQPYASAQF APPQNGIPAE YTAPHPHPAP
60 70 80 90 100
EYTGQTTVPE HTLNLYPPAQ THSEQSPADT SAQTVSGTAT QTDDAAPTDG
110 120 130 140 150
QPQTQPSENT ENKSQPKRLH VSNIPFRFRD PDLRQMFGQF GKILDVEIIF
160 170 180 190 200
NERGSKGFGF VTFENSADAD RAREKLHGTV VEGRKIEVNN ATARVMTNKK
210 220 230 240 250
TVNPYTNGWK LNPVVGAVYS PEFYAGTVLL CQANQEGSSM YSAPSSLVYT
260 270 280 290 300
SAMPGFPYPA ATAAAAYRGA HLRGRGRTVY NTFRAAAPPP PIPAYGGVVY
310 320 330 340 350
QDGFYGADIY GGYAAYRYAQ PTPATAAAYS DSYGRVYAAD PYHHALAPAP
360 370 380 390
TYGVGAMNAF APLTDAKTRS HADDVGLVLS SLQASIYRGG YNRFAPY
Length:397
Mass (Da):42,784
Last modified:February 5, 2008 - v2
Checksum:iEA96AA7B6E144D80
GO
Isoform 2 (identifier: Q9NWB1-2) [UniParc]FASTAAdd to basket
Also known as: Gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MNCEREQLR → MLASQGVLLHPYGVPMIVPAAPYLPGLIQ
     302-310: DGFYGADIY → EPVYGNKLLQ

Show »
Length:418
Mass (Da):44,793
Checksum:i47D6FC140F75D01A
GO
Isoform 3 (identifier: Q9NWB1-3) [UniParc]FASTAAdd to basket
Also known as: 1

The sequence of this isoform differs from the canonical sequence as follows:
     226-253: GTVLLCQANQEGSSMYSAPSSLVYTSAM → V

Show »
Length:370
Mass (Da):40,005
Checksum:i26DBC3263B7E5EA9
GO
Isoform 4 (identifier: Q9NWB1-4) [UniParc]FASTAAdd to basket
Also known as: Alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MNCEREQLR → MLASQGVLLHPYGVPMIVPAAPYLPGLIQ
     302-310: DGFYGADIY → EPVYGNKLLQ
     358-383: Missing.

Show »
Length:392
Mass (Da):42,084
Checksum:i68F8CEFE2FC6D674
GO
Isoform 5 (identifier: Q9NWB1-5) [UniParc]FASTAAdd to basket
Also known as: Beta

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: MNCEREQLR → MLASQGVLLHPYGVPMIVPAAPYLPGLIQ
     302-310: DGFYGADIY → EPVYGNKLLQ
     332-397: SYGRVYAADP...RGGYNRFAPY → RNQFVFVAAD...LQPPPTALVP

Show »
Length:395
Mass (Da):42,402
Checksum:i2299F9127AA1DE39
GO

Sequence cautioni

The sequence AAF78291 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti92T → A in BAA91472 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0308741 – 9MNCEREQLR → MLASQGVLLHPYGVPMIVPA APYLPGLIQ in isoform 2, isoform 4 and isoform 5. 2 Publications9
Alternative sequenceiVSP_030875226 – 253GTVLL…YTSAM → V in isoform 3. 3 PublicationsAdd BLAST28
Alternative sequenceiVSP_030876302 – 310DGFYGADIY → EPVYGNKLLQ in isoform 2, isoform 4 and isoform 5. 2 Publications9
Alternative sequenceiVSP_030877332 – 397SYGRV…RFAPY → RNQFVFVAADEISCNTSAVT DEFMLPTPTTTHLLQPPPTA LVP in isoform 5. 2 PublicationsAdd BLAST66
Alternative sequenceiVSP_030878358 – 383Missing in isoform 4. 1 PublicationAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF107203 mRNA. Translation: AAF78291.1. Different initiation.
AF229057 mRNA. Translation: AAL71904.1.
AF094849 mRNA. Translation: AAL83405.1.
AF109106 mRNA. Translation: AAL83406.1.
AF109120
, AF109107, AF109108, AF109109, AF109110, AF109111, AF109112, AF109113, AF109114, AF109115, AF109116, AF109117, AF109118, AF109119 Genomic DNA. Translation: AAL83407.1.
AF109120
, AF109107, AF109108, AF109109, AF109110, AF109111, AF109112, AF109113, AF109114, AF109115, AF109116, AF109117, AF109119 Genomic DNA. Translation: AAL83408.1.
AF109120
, AF109107, AF109108, AF109109, AF109110, AF109111, AF109112, AF109113, AF109114, AF109115, AF109116, AF109117, AF109119 Genomic DNA. Translation: AAL83409.1.
AF448859 mRNA. Translation: AAP41925.1.
AK001027 mRNA. Translation: BAA91472.1.
AC005774 Genomic DNA. No translation available.
AC006075 Genomic DNA. No translation available.
AC006112 Genomic DNA. No translation available.
AC007012 Genomic DNA. No translation available.
AC007217 Genomic DNA. No translation available.
AC007222 Genomic DNA. No translation available.
AC007223 Genomic DNA. No translation available.
AC009135 Genomic DNA. No translation available.
AC022206 Genomic DNA. No translation available.
AC023829 Genomic DNA. No translation available.
AC027683 Genomic DNA. No translation available.
AC079410 Genomic DNA. No translation available.
AC125796 Genomic DNA. No translation available.
AC131390 Genomic DNA. No translation available.
BC113691 mRNA. Translation: AAI13692.1.
CCDSiCCDS10531.1. [Q9NWB1-2]
CCDS10532.1. [Q9NWB1-5]
CCDS45405.1. [Q9NWB1-4]
CCDS55983.1. [Q9NWB1-1]
CCDS55984.1. [Q9NWB1-3]
RefSeqiNP_001135805.1. NM_001142333.1. [Q9NWB1-3]
NP_001135806.1. NM_001142334.1. [Q9NWB1-1]
NP_061193.2. NM_018723.3. [Q9NWB1-1]
NP_665898.1. NM_145891.2. [Q9NWB1-2]
NP_665899.1. NM_145892.2. [Q9NWB1-4]
NP_665900.1. NM_145893.2. [Q9NWB1-5]
XP_016878822.1. XM_017023333.1. [Q9NWB1-1]
XP_016878827.1. XM_017023338.1. [Q9NWB1-3]
UniGeneiHs.459842.

Genome annotation databases

EnsembliENST00000311745; ENSP00000309117; ENSG00000078328. [Q9NWB1-2]
ENST00000355637; ENSP00000347855; ENSG00000078328. [Q9NWB1-5]
ENST00000436368; ENSP00000402745; ENSG00000078328. [Q9NWB1-4]
ENST00000547338; ENSP00000447717; ENSG00000078328. [Q9NWB1-1]
ENST00000550418; ENSP00000450031; ENSG00000078328. [Q9NWB1-1]
ENST00000553186; ENSP00000447753; ENSG00000078328. [Q9NWB1-3]
GeneIDi54715.
KEGGihsa:54715.
UCSCiuc002cys.2. human. [Q9NWB1-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF107203 mRNA. Translation: AAF78291.1. Different initiation.
AF229057 mRNA. Translation: AAL71904.1.
AF094849 mRNA. Translation: AAL83405.1.
AF109106 mRNA. Translation: AAL83406.1.
AF109120
, AF109107, AF109108, AF109109, AF109110, AF109111, AF109112, AF109113, AF109114, AF109115, AF109116, AF109117, AF109118, AF109119 Genomic DNA. Translation: AAL83407.1.
AF109120
, AF109107, AF109108, AF109109, AF109110, AF109111, AF109112, AF109113, AF109114, AF109115, AF109116, AF109117, AF109119 Genomic DNA. Translation: AAL83408.1.
AF109120
, AF109107, AF109108, AF109109, AF109110, AF109111, AF109112, AF109113, AF109114, AF109115, AF109116, AF109117, AF109119 Genomic DNA. Translation: AAL83409.1.
AF448859 mRNA. Translation: AAP41925.1.
AK001027 mRNA. Translation: BAA91472.1.
AC005774 Genomic DNA. No translation available.
AC006075 Genomic DNA. No translation available.
AC006112 Genomic DNA. No translation available.
AC007012 Genomic DNA. No translation available.
AC007217 Genomic DNA. No translation available.
AC007222 Genomic DNA. No translation available.
AC007223 Genomic DNA. No translation available.
AC009135 Genomic DNA. No translation available.
AC022206 Genomic DNA. No translation available.
AC023829 Genomic DNA. No translation available.
AC027683 Genomic DNA. No translation available.
AC079410 Genomic DNA. No translation available.
AC125796 Genomic DNA. No translation available.
AC131390 Genomic DNA. No translation available.
BC113691 mRNA. Translation: AAI13692.1.
CCDSiCCDS10531.1. [Q9NWB1-2]
CCDS10532.1. [Q9NWB1-5]
CCDS45405.1. [Q9NWB1-4]
CCDS55983.1. [Q9NWB1-1]
CCDS55984.1. [Q9NWB1-3]
RefSeqiNP_001135805.1. NM_001142333.1. [Q9NWB1-3]
NP_001135806.1. NM_001142334.1. [Q9NWB1-1]
NP_061193.2. NM_018723.3. [Q9NWB1-1]
NP_665898.1. NM_145891.2. [Q9NWB1-2]
NP_665899.1. NM_145892.2. [Q9NWB1-4]
NP_665900.1. NM_145893.2. [Q9NWB1-5]
XP_016878822.1. XM_017023333.1. [Q9NWB1-1]
XP_016878827.1. XM_017023338.1. [Q9NWB1-3]
UniGeneiHs.459842.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ERRNMR-A109-196[»]
2N82NMR-B109-208[»]
4ZKAX-ray1.80A/B/C/D/E/F109-208[»]
ProteinModelPortaliQ9NWB1.
SMRiQ9NWB1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120107. 48 interactors.
IntActiQ9NWB1. 41 interactors.
MINTiMINT-2854938.
STRINGi9606.ENSP00000309117.

PTM databases

iPTMnetiQ9NWB1.
PhosphoSitePlusiQ9NWB1.

Polymorphism and mutation databases

BioMutaiRBFOX1.
DMDMi166897979.

Proteomic databases

EPDiQ9NWB1.
MaxQBiQ9NWB1.
PaxDbiQ9NWB1.
PeptideAtlasiQ9NWB1.
PRIDEiQ9NWB1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311745; ENSP00000309117; ENSG00000078328. [Q9NWB1-2]
ENST00000355637; ENSP00000347855; ENSG00000078328. [Q9NWB1-5]
ENST00000436368; ENSP00000402745; ENSG00000078328. [Q9NWB1-4]
ENST00000547338; ENSP00000447717; ENSG00000078328. [Q9NWB1-1]
ENST00000550418; ENSP00000450031; ENSG00000078328. [Q9NWB1-1]
ENST00000553186; ENSP00000447753; ENSG00000078328. [Q9NWB1-3]
GeneIDi54715.
KEGGihsa:54715.
UCSCiuc002cys.2. human. [Q9NWB1-1]

Organism-specific databases

CTDi54715.
DisGeNETi54715.
GeneCardsiRBFOX1.
HGNCiHGNC:18222. RBFOX1.
HPAiHPA040809.
MIMi605104. gene.
neXtProtiNX_Q9NWB1.
OpenTargetsiENSG00000078328.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0125. Eukaryota.
ENOG4111WJT. LUCA.
GeneTreeiENSGT00390000013767.
HOVERGENiHBG000044.
InParanoidiQ9NWB1.
KOiK14946.
OMAiSSMYTAP.
PhylomeDBiQ9NWB1.
TreeFamiTF315942.

Miscellaneous databases

ChiTaRSiRBFOX1. human.
EvolutionaryTraceiQ9NWB1.
GeneWikiiRBFOX1.
GenomeRNAii54715.
PROiPR:Q9NWB1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000078328.
ExpressionAtlasiQ9NWB1. baseline and differential.
GenevisibleiQ9NWB1. HS.

Family and domain databases

CDDicd12407. RRM_FOX1_like. 1 hit.
InterProiView protein in InterPro
IPR025670. Fox-1_C_dom.
IPR034237. FOX1_RRM.
IPR017325. RNA-bd_Fox-1.
IPR000504. RRM_dom.
PfamiView protein in Pfam
PF12414. Fox-1_C. 1 hit.
PF00076. RRM_1. 1 hit.
PIRSFiPIRSF037932. Ataxin_2_bd_A2BP. 1 hit.
SMARTiView protein in SMART
SM00360. RRM. 1 hit.
SUPFAMiSSF54928. SSF54928. 1 hit.
PROSITEiView protein in PROSITE
PS50102. RRM. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiRFOX1_HUMAN
AccessioniPrimary (citable) accession number: Q9NWB1
Secondary accession number(s): Q7Z7I7
, Q8TAE3, Q8TAF2, Q8WYB2, Q9NS20
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: February 5, 2008
Last modified: May 10, 2017
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.