UPF3B Antibody – Rabbit Polyclonal

UPF3B: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2 at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2- UPF3 surveillance complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of exon-exon junctions. In vitro, stimulates translation; the function is indepenedent of association with UPF2 and components of the EJC core. Defects in UPF3B are the cause of mental retardation syndromic X-linked type 14 (MRXS14). Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities. Belongs to the RENT3 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: RNA-binding; RNA splicing

Chromosomal Location of Human Ortholog: Xq24

Cellular Component: cytoplasm; cytosol; microtubule organizing center; nucleolus; nucleoplasm; nucleus

Molecular Function: mRNA binding; nucleocytoplasmic transporter activity; nucleotide binding; protein binding

Biological Process: mRNA 3'-end processing; mRNA catabolic process, nonsense-mediated decay; mRNA export from nucleus; nuclear mRNA splicing, via spliceosome; positive regulation of translation; RNA export from nucleus; termination of RNA polymerase II transcription

Disease: Mental Retardation, X-linked, Syndromic 14