Biology:WBP4
 Generic protein structure example |
WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.[1][2]
This gene encodes WW domain-containing binding protein 4. The WW domain represents a small and compact globular structure that interacts with proline-rich ligands. This encoded protein is a general spliceosomal protein that may play a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomal complex A.[2]
Bi-allelic variants in WBP4 are responsible of spliceosomopathies leading to developmental disorders. Symptoms include hypotonia, global developmental delay, severe intellectual disability, brain, musculoskeletal, and gastrointestinal abnormalities.[3] Note that mutations on RNU4-2 (ia) gene induce also spliceosomopathies leading to intellectual disability.[4]
References
- ↑ "WW domain-mediated interactions reveal a spliceosome-associated protein that binds a third class of proline-rich motif: the proline glycine and methionine-rich motif". Proc Natl Acad Sci U S A 95 (18): 10602–7. Sep 1998. doi:10.1073/pnas.95.18.10602. PMID 9724750. Bibcode: 1998PNAS...9510602B.
- ↑ 2.0 2.1 "Entrez Gene: WBP4 WW domain binding protein 4 (formin binding protein 21)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=11193.
- ↑ Eden Engal, Kaisa Teele Oja, Reza Maroofian, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked et al., "Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome", AJHG (2023). doi:10.1016/j.ajhg.2023.10.013
- ↑ Greene, D., Thys, C., Berry, I.R. et al., "Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders". Nat Med (2024). doi:10.1038/s41591-024-03085-5
Further reading
- "Delay in synthesis of the 3' splice site promotes trans-splicing of the preceding 5' splice site.". Mol. Cell 18 (2): 245–51. 2005. doi:10.1016/j.molcel.2005.03.018. PMID 15837427.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "The DNA sequence and analysis of human chromosome 13.". Nature 428 (6982): 522–8. 2004. doi:10.1038/nature02379. PMID 15057823. Bibcode: 2004Natur.428..522D.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Arginine methylation inhibits the binding of proline-rich ligands to Src homology 3, but not WW, domains.". J. Biol. Chem. 275 (21): 16030–6. 2000. doi:10.1074/jbc.M909368199. PMID 10748127.
- "Formin binding proteins bear WWP/WW domains that bind proline-rich peptides and functionally resemble SH3 domains.". EMBO J. 15 (5): 1045–54. 1996. doi:10.1002/j.1460-2075.1996.tb00442.x. PMID 8605874.
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