WBP4

WBP4
Identifiers
AliasesWBP4, FBP21, WW domain binding protein 4
External IDsOMIM: 604981; MGI: 109568; GeneCards: WBP4
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

11193

22380

Ensembl

ENSG00000120688

ENSMUSG00000022023

UniProt

O75554

Q61048

RefSeq (mRNA)

NM_007187

NM_018765

RefSeq (protein)

NP_009118

NP_061235

Location (UCSC)Chr 13: 41.06 – 41.08 MbChr 14: 79.7 – 79.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

WW domain-binding protein 4 is a protein that in humans is encoded by the WBP4 gene.[5][6]

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.[6]

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.[7] Note that mutations on RNU4-2 [ia] gene induce also spliceosomopathies leading to intellectual disability.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120688 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022023 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Bedford MT, Reed R, Leder P (Sep 1998). "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. Bibcode:1998PNAS...9510602B. doi:10.1073/pnas.95.18.10602. PMC 27941. PMID 9724750.
  6. ^ a b "Entrez Gene: WBP4 WW domain binding protein 4 (formin binding protein 21)".
  7. ^ 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
  8. ^ 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


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