PTPN23

This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family.

protein tyrosine phosphatase, non-receptor type 23

Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:18434552, PubMed:21757351).
May act as a negative regulator of Ras-mediated mitogenic activity (PubMed:18434552).
Plays a role in ciliogenesis (PubMed:20393563).

Cilium assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Early endosome to late endosome transportManual Assertion Based On ExperimentIMP:FlyBase
Endocytic recyclingManual Assertion Based On ExperimentIMP:FlyBase
Negative regulation of epithelial cell migrationManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of adherens junction organizationManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of early endosome to late endosome transportManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of homophilic cell adhesionManual Assertion Based On ExperimentIMP:UniProtKB
Positive regulation of Wnt protein secretionManual Assertion Based On ExperimentIMP:FlyBase
Protein dephosphorylationIEA:InterPro
Protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathwayManual Assertion Based On ExperimentIBA:GO_Central
Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathwayManual Assertion Based On ExperimentIMP:UniProtKB

Nucleus
Cytoplasm
Cytoplasmic vesicle
Endosome
Cytoplasm, cytoskeleton, cilium basal body
Early endosome

Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS):
An autosomal recessive disorder characterized by global developmental delay, brain abnormalities, mainly ventriculomegaly and/or brain atrophy, intellectual disability, absent speech, peripheral spasticity, and microcephaly. Additional variable features include early-onset seizures, optic atrophy, and dysmorphic facial features. Early death may occur.