PTPN23 Gene Summary [Human]
This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PTPN23 |
| Official Name | protein tyrosine phosphatase non-receptor type 23 [Source:HGNC Symbol;Acc:HGNC:14406] |
| Ensembl ID | ENSG00000076201 |
| Bio databases IDs | |
| Aliases | protein tyrosine phosphatase non-receptor type 23 |
| Synonyms | AI462446, Aw120888, HD-PTP, NEDBASS, p164 Ptp-Td14, protein tyrosine phosphatase non-receptor type 23, protein tyrosine phosphatase, non-receptor type 23, PTP-TD14 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTPN23 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein-interacting V-domain of mammalian Alix and related domains
- protein kinase binding
- protein-tyrosine-phoshatase
- catalytic domain
- ALIX V-shaped domain binding to HIV
- Protein tyrosine phosphatase, catalytic domain
- PTP_DSP_cys
- protein binding
- Protein tyrosine phosphatase, catalytic domain motif
- Protein tyrosine phosphatase, catalytic domain, undefined specificity
- Protein-interacting Bro1-like domain of mammalian Alix and related domains
- Protein-tyrosine phosphatase
- BRO1-like domain
- phosphatase
Pathways
Biological processes and signaling networks where the PTPN23 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- pancreatic adenocarcinoma
- metastasis
- chronic lymphocytic leukemia
- lung cancer
- organismal death
- neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
- cutaneous melanoma
- hereditary spastic paraplegia
role in cell
- expression in
- cell viability
- apoptosis
- survival
- proliferation
- growth
- phosphorylation in
- migration
- scattering
- cell-cell adhesion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- Nucleus
- basal bodies
- endosomes
- centrosome
- cytosol
- nucleoplasm
- nuclear bodies
- early endosomes
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTPN23 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- cilium morphogenesis
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- early endosome to late endosome transport
- negative regulation of epithelial cell migration
- positive regulation of early endosome to late endosome transport
- positive regulation of Wnt protein secretion
- endocytic recycling
Cellular Component
Where in the cell the gene product is active
- nucleus
- early endosome
- endosome
- nuclear body
- extracellular vesicular exosome
- cytoplasm
- cilium basal body
- intracellular membrane-bounded organelle
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- protein tyrosine phosphatase activity