• Gene id: 54715

Gene Summary

• Gene Symbol: RBFOX1   Gene   UCSC   Ensembl
• Aliases: 2BP1, A2BP1, FOX-1, FOX1, HRNBP1
• Gene name: RNA binding fox-1 homolog 1
• Alternate names: RNA binding protein fox-1 homolog 1, RNA binding protein, fox-1 homolog 1, ataxin 2-binding protein 1, fox-1 homolog A, fox-1-like RNA-binding protein 1, hexaribonucleotide binding protein 1 isoform alpha, hexaribonucleotide binding protein 1 isoform beta, hexar,
• Gene location: 16p13.3 (5239751: 7713342)     Exons: 29     NC_000016.10
• Gene summary(Entrez): 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 atax
• OMIM: 605104

Protein Summary

• Protein general information: Q9NWB1  
  • Name: RNA binding protein fox 1 homolog 1 (Ataxin 2 binding protein 1) (Fox 1 homolog A) (Hexaribonucleotide binding protein 1)
  • Length: 397  
  • Mass: 42784
  • Tissue specificity: Predominantly expressed in muscle and brain.
• Sequence:

  MNCEREQLRGNQEAAAAPDTMAQPYASAQFAPPQNGIPAEYTAPHPHPAPEYTGQTTVPEHTLNLYPPAQTHSEQ
  SPADTSAQTVSGTATQTDDAAPTDGQPQTQPSENTENKSQPKRLHVSNIPFRFRDPDLRQMFGQFGKILDVEIIF
  NERGSKGFGFVTFENSADADRAREKLHGTVVEGRKIEVNNATARVMTNKKTVNPYTNGWKLNPVVGAVYSPEFYA
  GTVLLCQANQEGSSMYSAPSSLVYTSAMPGFPYPAATAAAAYRGAHLRGRGRTVYNTFRAAAPPPPIPAYGGVVY
  QDGFYGADIYGGYAAYRYAQPTPATAAAYSDSYGRVYAADPYHHALAPAPTYGVGAMNAFAPLTDAKTRSHADDV
  GLVLSSLQASIYRGGYNRFAPY

• Structural information:
  • Protein Domains: (117..19-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR025670  IPR034237  IPR012677  IPR035979  IPR017325   IPR000504  
  • Prosite: PS50102
  • CDD: cd12407
  • PDB: 2ERR 2N82 4ZKA
  • PDBsum: 2ERR 2N82 4ZKA
  • STRING: ENSP00000309117
• Other Databases: GeneCards:  RBFOX1  Malacards:  RBFOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0007399	nervous system development	IBA	biological process
GO:0000381	regulation of alternative mRNA splicing, via spliceosome	IBA	biological process
GO:0003729	mRNA binding	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0043484	regulation of RNA splicing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0006397	mRNA processing	IEA	biological process
GO:0097165	nuclear stress granule	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0050658	RNA transport	NAS	biological process
GO:0003723	RNA binding	NAS	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray