PUM1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
PUM1
Official Name
pumilio RNA binding family member 1 [Source:HGNC Symbol;Acc:HGNC:14957]
Ensembl ID
ENSG00000134644
Bio databases IDs NCBI: 9698 Ensembl: ENSG00000134644
Aliases pumilio RNA binding family member 1
Synonyms HSPUM, mKIAA0099, NEDMSF, PUMH, PUMH1, pumilio RNA-binding family member 1, PUML1, Pumm, SCA47
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PUM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Pumilio-like repeats
  • mRNA 3' UTR binding
  • Pumilio-family RNA binding domain
  • Pumilio-family RNA binding repeat
  • protein binding
  • RNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Alzheimer disease
  • neoplasia
  • metabolic syndrome X
  • tumorigenesis
  • colorectal cancer
  • hereditary spastic ataxia
  • early-onset spinocerebellar ataxia 47
  • pumilio 1 associated developmental disability, ataxia and seizure syndrome
  • hypoplasia
  • oligozoospermia
regulated by
role in cell
  • proliferation
  • activation in
  • expression in
  • differentiation
  • apoptosis
  • growth
  • cell cycle progression
  • production
  • G1/S phase transition
  • translation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytoplasmic mRNA processing body
  • cytosol
  • nucleoplasm
  • stress granule
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PUM1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mRNA destabilization
  • 3'-UTR-mediated mRNA destabilization
  • spermatogenesis
  • production of miRNAs involved in gene silencing by miRNA
  • regulation of mRNA stability
  • adult locomotory behavior
  • positive regulation of RIG-I signaling pathway
  • regulation of gene silencing by miRNA
  • regulation of chromosome segregation
  • posttranscriptional regulation of gene expression
  • regulation of translation
  • stem cell differentiation
  • positive regulation of gene silencing by miRNA
  • posttranscriptional gene silencing
  • regulation of cell cycle

Cellular Component

Where in the cell the gene product is active
  • cytoplasmic stress granule
  • cytoplasm
  • cytosol
  • cytoplasmic mRNA processing body
  • axon
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • miRNA binding
  • protein binding
  • RNA binding
  • mRNA 3'-UTR binding

Gene-Specific Assays for Results You Can Trust

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