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FLASH GENE
Symbol UPF3B contributors: mct - updated : 03-10-2017
HGNC name UPF3 regulator of nonsense transcripts homolog B (yeast)
HGNC id 20439
Corresponding disease
FGS6 FG syndrome 6
LJFS3 Lujan-Fryns syndrome 3
MRXS14 mental retardation, X-linked, syndromic 14
Location Xq24      Physical location : 118.967.988 - 118.986.991
Synonym name
  • UPF3 regulator of nonsense transcripts homolog B
  • similar to yeast Upf3, variant B
    • Synonym symbol(s) UPF3X, RENT3B, HUPF3B, MRXS14, RENT3BP1, UPF3BP2, UPF3BP3, Upf3p-X
    DNA
    TYPE fragile site
    SPECIAL FEATURE head to head
    STRUCTURE 18.00 kb     11 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
    - splicing 2381 57.8 483 - G.Serin
    having exon 8 (eleven exons)
    - splicing 2342 56.2 470 - G.Serin
    lacking exon 8 (ten exons)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Nervousbrain     Homo sapiens
    Reproductivemale systemprostate   
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone  highly
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one RNA recognition motif (RRM)
  • Smg4/UPF3 domain
    • HOMOLOGY
    interspecies ortholog to yeast S.cerevisiae Upf3p
    homolog to Drosophila DS07851.3
    ortholog to C.elegans C23G10.2/SMG.4
    intraspecies paralog to UPF3A
    Homologene
    FAMILY nonsense-mediated mRNA decay complex
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    text
  • in neural stem cells, UPF3B protein was detected in the cytoplasm and in the nucleus, and enriched in the nucleolus
    • basic FUNCTION
  • involved in both mRNA nuclear export and mRNA surveillance for the detection of truncated messengers and initiation of nonsense mediated mRNA decay NMD
  • important component of the nonsense-mediated mRNA decay surveillance machinery
  • acting as a nucleocytoplasmic shuttle
  • UPF3A levels are tightly regulated by a post-transcriptional switch to maintain appropriate levels of NMD substrates in cells containing different levels of UPF3B
  • is a core member of the nonsense-mediated mRNA decay (NMD) pathway that functions to rapidly degrade transcripts with premature termination codons (PTCs)
  • MYCN, PIGV and UPF3B regulate likely synapse development
  • is involved in the nonsense-mediated mRNA decay pathway (NMD) that controls mRNA stability and functions in the prevention of the synthesis of truncated proteins
  • UPF3B and UPF1 are down-regulated during differentiation of neural stem cells into neurons
  • UPF3B--is critical for the nonsense-mediated RNA decay (NMD) pathway, while its autosomal counterpart--UPF3A--encodes an enigmatic protein previously shown to have trace NMD activity
  • interacts with the release factors, delays translation termination and dissociates post-termination ribosomal complexes that are devoid of the nascent peptide
  • is likely involved in the crosstalk between the NMD machinery and the premature termination codons (PTCs)-bound ribosome, a central mechanistic step of RNA surveillance
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of a post-splicing multiprotein complex
    INTERACTION
    DNA
    RNA binding specifically to 20nt upstream of exon-exon junctions in mRNAs
    small molecule
    protein
  • RBM8A, THOC4 (ALY), NXF1 (TAP), UPF2
  • DCP2
  • in the UPF trimeric complex, UPF2 and UPF3B cooperatively stimulate both ATPase and RNA helicase activities of UPF1
  • SATB2 binds to the UPF3B promoter, and SATB2 expression significantly activates gene transcription using the UPF3B promoter
  • ability of UPF1 to impinge on premature termination, moreover, requires ATP-binding, RNA-binding and NMD cofactors UPF2 and UPF3A, UPF3B
  • UPF1 and ribosomes are new interaction partners of UPF3B
    • cell & other
    REGULATION
    activated by SATB2, that activates UPF3B expression through binding to its promoter
    ASSOCIATED DISORDERS
    corresponding disease(s) LJFS3 , FGS6 , MRXS14
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS