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Gene Review:

TRGJP1 - T cell receptor gamma joining P1

Homo sapiens

Synonyms: JP1, TCRGJP1

Phimister, A.J. et al., Marsh, D.J. et al.

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Disease relevance of TRGJP1

3. A putative JPS locus, JP1, which most likely functions as a tumor suppressor, had previously been mapped to 10q22-24 in both familial and sporadic juvenile polyps [1].

High impact information on TRGJP1

Using preparative SDS-PAGE, in-gel tryptic digestion, high pressure liquid chromatography, and mass spectrometry-based peptide sequencing, we identified 7-diethylamino-3-(4'-maleimidylphenyl)-4-methylcoumarin-thioether adducts on three cysteine residues of JP1 (101, 402, and 627); the remaining five cysteines of JP1 were unlabeled [2].
Junctophilin 1 (JP1), a 72-kDa protein localized at the skeletal muscle triad, is essential for stabilizing the close apposition of T-tubule and sarcoplasmic reticulum membranes to form junctions [2].

References

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. Marsh, D.J., Roth, S., Lunetta, K.L., Hemminki, A., Dahia, P.L., Sistonen, P., Zheng, Z., Caron, S., van Orsouw, N.J., Bodmer, W.F., Cottrell, S.E., Dunlop, M.G., Eccles, D., Hodgson, S.V., Järvinen, H., Kellokumpu, I., Markie, D., Neale, K., Phillips, R., Rozen, P., Syngal, S., Vijg, J., Tomlinson, I.P., Aaltonen, L.A., Eng, C. Cancer Res. (1997) [Pubmed]
Conformation-dependent Stability of Junctophilin 1 (JP1) and Ryanodine Receptor Type 1 (RyR1) Channel Complex Is Mediated by Their Hyper-reactive Thiols. Phimister, A.J., Lango, J., Lee, E.H., Ernst-Russell, M.A., Takeshima, H., Ma, J., Allen, P.D., Pessah, I.N. J. Biol. Chem. (2007) [Pubmed]

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