Biology:U2 small nuclear RNA auxiliary factor 1

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Splicing factor U2AF 35 kDa subunit is a protein that in humans is encoded by the U2AF1 gene.[1][2][3]

Function

This gene belongs to the splicing factor SR family of genes . U2AF1 is a subunit of the U2 Auxiliary Factor complex alongside a larger subunit, U2AF2. U2AF1 is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes a small (~35 kDa) subunit which plays a critical role in RNA splicing by recognizing and binding to AG nucleotides at the 3’ splice site to facilitate spliceosome assembly.[4] Alternatively spliced transcript variants encoding different isoforms have been identified {{Citation needed|date=November 2020} have been found in a range of human cancers, with a distinctive pattern of these mutations at the zinc fingers implicating a functional role under selection.[5] In lung cancers, these mutations affect alternative splicing of several transcripts, including oncogenic ROS1 fusions.[6] U2af1 conditional deletion in mouse hematopoietic system leads to early lethality suggesting its important for hematopoietic stem cell maintenance and function {https://doi.org/10.1038/s41375-020-01116-x }.

Interactions

U2 small nuclear RNA auxiliary factor 1 has been shown to interact with:

References

  1. ↑ "The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3". Genomics 33 (2): 298–300. January 1997. doi:10.1006/geno.1996.0196. PMID 8660980. 
  2. ↑ "Comparative mapping of the imprinted U2afbpL gene on mouse chromosome 11 and human chromosome 5". Cytogenet Cell Genet 68 (1–2): 19–24. Dec 1994. doi:10.1159/000133881. PMID 7956352. 
  3. ↑ "Entrez Gene: U2AF1 U2 small nuclear RNA auxiliary factor 1". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=7307. 
  4. ↑ "Identification, purification, and biochemical characterization of U2 small nuclear ribonucleoprotein auxiliary factor". PNAS 86 (23): 9243–9247. 1989. doi:10.1073/pnas.86.23.9243. PMID 2531895. Bibcode: 1989PNAS...86.9243Z. "Functional recognition of the 3' splice site AG by the splicing factor U2AF35". Nature 402 (6763): 832–5. 1999. doi:10.1038/45590. PMID 10617206. Bibcode: 1999Natur.402..832W. 
  5. ↑ "Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing". Cell 150 (6): 1107–1120. 2012. doi:10.1016/j.cell.2012.08.029. PMID 22980975. 
  6. ↑ "Functional significance of U2AF1 S34F mutations in lung adenocarcinomas". Nature Communications 10 (1). December 2019. doi:10.1038/s41467-019-13392-y. PMID 31836708. Bibcode: 2019NatCo..10.5712E. 
  7. ↑ "Phosphorylation-dephosphorylation differentially affects activities of splicing factor ASF/SF2". EMBO J. 17 (21): 6359–67. November 1998. doi:10.1093/emboj/17.21.6359. PMID 9799243. 
  8. ↑ "Functional properties of p54, a novel SR protein active in constitutive and alternative splicing". Mol. Cell. Biol. 16 (10): 5400–8. October 1996. doi:10.1128/MCB.16.10.5400. PMID 8816452. 
  9. ↑ "U2AF participates in the binding of TAP (NXF1) to mRNA". J. Biol. Chem. 277 (6): 3935–42. February 2002. doi:10.1074/jbc.M107598200. PMID 11724776. 
  10. ↑ "PAP-1, the mutated gene underlying the RP9 form of dominant retinitis pigmentosa, is a splicing factor". Exp. Cell Res. 300 (2): 283–96. November 2004. doi:10.1016/j.yexcr.2004.07.029. PMID 15474994. 
  11. ↑ "Splicing factor SPF30 bridges an interaction between the prespliceosome protein U2AF35 and tri-small nuclear ribonucleoprotein protein hPrp3". J. Biol. Chem. 283 (13): 8145–52. March 2008. doi:10.1074/jbc.M707984200. PMID 18211889. 
  12. ↑ "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R. 
  13. ↑ "Cloning and intracellular localization of the U2 small nuclear ribonucleoprotein auxiliary factor small subunit". Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8769–73. September 1992. doi:10.1073/pnas.89.18.8769. PMID 1388271. Bibcode: 1992PNAS...89.8769Z. 
  14. ↑ "ZNF265--a novel spliceosomal protein able to induce alternative splicing". J. Cell Biol. 154 (1): 25–32. July 2001. doi:10.1083/jcb.200010059. PMID 11448987. 

Further reading

  • Overview of all the structural information available in the PDB for UniProt: Q01081 (Splicing factor U2AF 35 kDa subunit) at the PDBe-KB.



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