• Gene id: 199746

Gene Summary

• Gene Symbol: U2AF1L4   Gene   UCSC   Ensembl
• Aliases: U2AF1-RS3, U2AF1L3, U2AF1L3V1, U2AF1RS3, U2af26
• Gene name: U2 small nuclear RNA auxiliary factor 1 like 4
• Alternate names: splicing factor U2AF 26 kDa subunit, U2 auxiliary factor 26, U2 small nuclear RNA auxiliary factor 1-like 3, U2 small nuclear RNA auxiliary factor 1-like protein 3, U2 small nuclear RNA auxiliary factor 1-like protein 4, U2(RNU2) small nuclear RNA auxiliary fa,
• Gene location: 19q13.12 (129904024: 129071725)     Exons: 9     NC_000012.12
• OMIM: 601080

Protein Summary

• Protein general information: Q8WU68  
  • Name: Splicing factor U2AF 26 kDa subunit (U2 auxiliary factor 26) (U2 small nuclear RNA auxiliary factor 1 like protein 4) (U2AF1 like 4) (U2(RNU2) small nuclear RNA auxiliary factor 1 like protein 3) (U2 small nuclear RNA auxiliary factor 1 like protein 3) (U
  • Length: 220  
  • Mass: 25744
  • Tissue specificity: Isoform 2 is widely expressed. Isoform 3 is highly expressed in heart, brain and lung, lower expressed in thymus and much lower expressed in peripheral blood leukocytes. {ECO
• Sequence:

  MAEYLASIFGTEKDKVNCSFYFKIGVCRHGDRCSRLHNKPTFSQTIVLLNLYRNPQNTAQTADGSHCHVSDVEVQ
  EHYDSFFEEVFTELQEKYGEIEEMNVCDNLGDHLVGNVYVKFRREEDGERAVAELSNRWFNGQAVHGELSPVTDF
  RESCCRQYEMGECTRGGFCNFMHLRPISQNLQRQLYGRGPRRRSPPRFHTGHHPRERNHRCSPDHWHGRF

• Structural information:
  • Protein Domains: (65..14-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR000504  IPR003954  IPR009145   IPR000571  
  • Prosite: PS50102 PS50103
• Other Databases: GeneCards:  U2AF1L4  Malacards:  U2AF1L4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030628	pre-mRNA 3'-splice site binding	IBA	molecular function
GO:0005681	spliceosomal complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IBA	biological process
GO:0089701	U2AF complex	IBA	cellular component
GO:0000398	mRNA splicing, via spliceosome	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0089701	U2AF complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005681	spliceosomal complex	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:0005737	cytoplasm	IEA	cellular component
GO:0006406	mRNA export from nucleus	TAS	biological process
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006405	RNA export from nucleus	TAS	biological process
GO:0031124	mRNA 3'-end processing	TAS	biological process
GO:0016607	nuclear speck	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa03040	Spliceosome

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881