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FLASH GENE
Symbol WBP4 contributors: mct/npt - updated : 27-02-2024
HGNC name WW domain binding protein 4 (formin binding protein 21)
HGNC id 12739
DNA
TYPE functioning gene
STRUCTURE 22.44 kb     10 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 2660 - 376 - 2017 28838205
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a matrin-type zinc finger (Huang 2009)
  • two tandem WW domains with Pro-Arg motif often overlaping with SH3 domain motifs within protein sequences (Bedford 2000)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text colocalizes with the essential splicing factor SFRS2 in the nuclear speckles, which contain numerous pre-mRNA splicing factors (Huang 2009)
    basic FUNCTION
  • activator of pre-mRNA splicing (Huang 2009)
  • may be playing a role in cross-intron bridging of U1 and U2 snRNPs in the spliceosomes (Huang 2009)
  • may also be implicated in the coordination of transcription and pre-mRNA splicing via its tandem WW domains (Huang 2009)
  • important for the splicing of pre-mRNA in the nucleus of eukaryotic cells
  • among the spliceosome proteins, WBP4 is part of a group that plays a critical role in splice-site selection, and is important for spliceosomal activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the U2 snRNP complex of the spliceosomes (Huang 2009)
  • is part of the early spliceosomal complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with KHDRBS1, through its WW domain (Bedford 2000)
  • interacting with WBP11 (significantly, its tandem WW domains are connected by a highly flexible region, enabling their simultaneous interaction with two proline-rich motifs of SIPP1) (Huang 2009)
  • tandem-WW domains of WBP4 to interact with splicing factor 3B4 (SF3B4) in nuclear speckles where splicing takes place
  • WBP4 is a novel key player in the regulation of SNRNP200
  • FBP21 regulates SNRNP200 helicase activity involved in the activation of the spliceosomal B-complex
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MHGDDDF
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    LOF WBP11 and WBP4 variants should be considered as a possible cause of VACTERL association
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS