PTPN23

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

Full Name

protein tyrosine phosphatase, non-receptor type 23

Function

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).

Biological Process

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

Cellular Location

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

Involvement in disease

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.