Gene: PUM1

Alternate names for this Gene: HSPUM|PUMH|PUMH1|PUML1|SCA47

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p35.2

Description of this Gene: pumilio RNA binding family member 1

Type of Gene: protein-coding

rs4642942 in PUM1 gene and Duration of sleep PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs1557539450 in PUM1 gene and SPINOCEREBELLAR ATAXIA 47 PMID 29474920 2018 A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.