| Name | protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) |
| Symbol | PTPN13 |
| Aliases | PNP1; FAP-1; PTP1E; PTPL1; PTPLE; PTP-BL; PTP-BAS; Fas-associated phosphatase-1; protein tyrosine phosphatase 1E; protein-tyrosine phophatase PTPL1; APO-1/CD95 (Fas)-associated phosphatase; protein-tyrosine phosphatase 1, Fas-associated; protein tyrosine phosphatase, nonreceptor type 13 |
| Gene Product | - protein tyrosine phosphatase, non-receptor type 13, isoform 4
- protein tyrosine phosphatase, non-receptor type 13, isoform 3
- protein tyrosine phosphatase, non-receptor type 13, isoform 1
- protein tyrosine phosphatase, non-receptor type 13, isoform 2
|
| Category | - Mutation in Prostate cancer
|
| UniGene | Hs.211595 |
| OMIM | 600267 |
| Locus | 5783 |
| Summary | 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. Four alternatively spliced transcript variants, which encode distinct proteins, have been reported. |
| Gene Ontology | |
| Expression | | EST (104 ESTs, 55 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| bone (2/13) |  | 4/26211 |
| brain (4/204) | | 7/362011 |
| cervix (1/7) | | 1/28115 |
| colon (2/853) | | 4/165626 |
| connective tissue (1/1) | | 1/1301 |
| ear (1/2) | | 4/12660 |
| embryo (1/19) | | 1/37976 |
| eye (5/33) | | 8/93836 |
| germ cell (1/7) | | 1/57383 |
| head and neck (4/990) | | 6/79796 |
| kidney (4/86) | | 11/132968 |
| lung (4/312) | | 5/245386 |
| muscle (2/21) | | 4/71297 |
| nervous (2/475) | | 2/43438 |
| pancreas (2/33) | | 2/117255 |
| prostate (2/291) |  | 2/109871 |
| uncharacterized tissue (13/1773) | | 35/713325 |
| uterus (3/212) | | 5/155110 |
|
| SAGE (16493292 tags, 313 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| brain (19/19) | | 154/3597709 |
| cerebellum (1/1) | | 5/205120 |
| colon (8/8) | | 50/1245116 |
| eye (6/6) | | 99/2154931 |
| foreskin (2/2) | | 3/28753 |
| heart (1/1) | | 23/253071 |
| kidney (2/2) | | 12/147870 |
| liver (1/1) | | 18/200583 |
| lung (1/1) | | 29/534858 |
| mammary gland (18/19) | | 193/2054643 |
| muscle (2/2) | | 10/215434 |
| ovary (9/10) | | 83/654733 |
| pancreas (8/8) | | 56/498557 |
| prostate (11/13) | | 97/1448300 |
| skin (3/7) | | 9/115340 |
| stomach (3/3) | | 23/368665 |
| uncharacterized tissue (19/22) | | 136/2080609 |
| vascular (3/3) | | 30/689000 |
|
|
| SNP | rs2200052 (C/T:exception); rs2015494 (A/T:exception); rs2291216 (A/G:exception); rs2006842 (A/C:exception); rs2160504 (G/A:exception); rs1420620 (C/T:exception); rs1989076 (C/G:exception); rs969734 (A/G:exception); rs1894958 (A/T:exception); rs2287147 (G/A:exception); rs1201356 (T/C:exception); rs1345411 (A/G:exception); rs980637 (C/T:exception); rs1035191 (A/C:exception); rs2054592 (A/G:exception); rs3035335 (-/AA:exception); rs1026861 (C/T:exception); rs1420624 (G/T:exception); rs1021101 (C/T:exception); rs989902 (A/C:exception); rs1038290 (C/T:exception); rs710832 (C/T:exception); rs2904143 (A/G:exception); rs1187208 (C/T:exception); rs1212166 (C/T:exception); |
| Evidence | Mutation in Prostate cancer
|
