PTPN13 (Protein tyrosine phosphatase, non-receptor type 13)

Alias_names	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
Alias_symbol (synonym)	PTP1E
	PTP-BAS
	PTPL1
	PTP-BL
Other alias	DKFZp686J1497
	FAP-1
	PNP1
	PTP-E1
	PTPLE
HGNC (Hugo)	PTPN13
LocusID (NCBI)	5783
Atlas_Id	41912
Location	4q21.3  [Link to chromosome band 4q21]
Location_base_pair	Starts at 86594315 and ends at 86815175 bp from pter ( according to hg19-Feb_2009)  [Mapping PTPN13.png]
	Genomic view

Description	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP is a large protein that possesses a PTP domain at C-terminus, and multiple noncatalytic domains, which include a domain with similarity to band 4.1 superfamily of cytoskeletal-associated proteins, a region consisting of five PDZ domains, and a leucine zipper motif. This PTP was found to interact with, and dephosphorylate Fas receptor, as well as IkappaBalpha through the PDZ domains, which suggested its role in Fas mediated programmed cell death. This PTP was also shown to interact with GTPase-activating protein, and thus may function as a regulator of Rho signaling pathway. Eight spliced and the unspliced mRNAs putatively encode good proteins.
	Schematic representation of PTPN13 structure and boxes represent functional domains. The KIND domain has been identified in silico by sequence homology.
Expression	In all human normal tissues, including lymph node and peripheral blood mononuclear cells samples, PTPN13 is ubiquitously expressed.
Localisation	The FERM domain binds to phosphatidylinositol 4,5-biphosphate leading to the enrichment of PTPN13 at a juxtamembrane localization. However, the PTPN13 protein is also detected throughout the cytoplasm. In HeLa cells, PTPN13 localizes to the centrosomes during metaphase.
Function	Functionally, the gene has been tested for association to diseases (Bone Neoplasms; Carcinoma; Colorectal Neoplasms; Liver Neoplasms; lymphoma; Sarcoma, Ewing's ), proposed to participate in a pathway (FAS signaling pathway ( CD95 )) and a process (protein amino acid dephosphorylation). Proteins are expected to have molecular functions (non-membrane spanning protein tyrosine phosphatase activity, hydrolase activity, protein binding, structural molecule activity) and to localize in various compartments (nucleus, cytoplasm, cytoskeleton).

Note	Different somatic mutations was identified in colorectal tumors (19% of the colorectal cancer samples analyzed), predicted to result in missense or non-sense mutations. Some of these mutant proteins led to reduce phosphatase activity.
	Distribution of mutations in PTPN13, black arrows indicate location of missense mutations, red arrows indicate location of nonsense mutations or frameshifts.

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