Aliases for PUM1 Gene
External Ids for PUM1 Gene
Previous GeneCards Identifiers for PUM1 Gene
This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for PUM1 Gene
PUM1 (Pumilio RNA-Binding Family Member 1) is a Protein Coding gene. Diseases associated with PUM1 include intermediate charcot-marie-tooth neuropathy. Among its related pathways are Translational Control and Clathrin derived vesicle budding. GO annotations related to this gene include RNA binding. An important paralog of this gene is PUM2.
UniProtKB/Swiss-Prot for PUM1 Gene
Sequence-specific RNA-binding protein that negatively regulates translation and mRNA stability by binding the 3-UTR of mRNA targets. Binds to an RNA consensus sequence, the Pumilio Response Element (PRE), 5-UGUANAUA-3, that is related to the Nanos Response Element (NRE). Capable of deadenylation-dependent and -independent modes of repression. May be required to support proliferation and self-renewal of stem cells.