Recombinant Human Prolyl endopeptidase-like (PREPL)

Uniprot Id

Q4J6C6

Target Species

Human

Target Name

PREPL

Target Full Name

Prolyl endopeptidase-like

Target Function

Serine peptidase whose precise substrate specificity remains unclear. Does not cleave peptides after a arginine or lysine residue. Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex. May play a role in the regulation of synaptic vesicle exocytosis.

Target Involvement

Hypotonia-cystinuria syndrome (HCS); Myasthenic syndrome, congenital, 22 (CMS22)

Target Subcellular Location

Cytoplasm, cytosol. Golgi apparatus, trans-Golgi network. Cytoplasm, cytoskeleton. Golgi apparatus. Nucleus.

Target Protein Families

Peptidase S9A family

Target Tissue Specificity

Expressed in pyramidal neurons of the temporal cortex and neocortex (at protein level). Widely expressed. Expressed at higher level in brain, skeletal muscle, heart and kidney. Expressed at the endplates in the neuromuscular junction.

Target Synonyms

PPCEL_HUMAN; prepl; Prolyl endopeptidase-like; Prolylendopeptidase-like; putative prolyl oligopeptidase

Target Background

The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.