PRUNE1
PRUNE1 is a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility.
Full Name
Prune Exopolyphosphatase 1
Function
Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis (PubMed:28334956).
Involved in the regulation of microtubule polymerization (PubMed:28334956).
Biological Process
Regulation of microtubule polymerizationManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of neurogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Cellular Location
Cytoplasm
Nucleus
Cell junction, focal adhesion
In some transfected cells a nuclear staining is also observed.
Involvement in disease
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA):
An autosomal recessive neurodevelopmental and degenerative disorder characterized by primary microcephaly, profound global developmental delay, and severe intellectual disability. Additional clinical features include dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination.
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