PRUNE1
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).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the PPase class C family. Prune subfamily.
Tissue Specificity
Ubiquitously expressed. Seems to be overexpressed in aggressive sarcoma subtypes, such as leiomyosarcomas and malignant fibrous histiocytomas (MFH) as well as in the less malignant liposarcomas.
Cellular localization
- Cytoplasm
- Nucleus
- Cell junction
- Focal adhesion
- In some transfected cells a nuclear staining is also observed.
Alternative names
PRUNE, PRUNE1, Exopolyphosphatase PRUNE1, Drosophila-related expressed sequence 17, HTcD37, Protein prune homolog 1, DRES-17, DRES17, hPrune