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Alternative titles; symbolsTRYPTASE, GAMMATRANSMEMBRANE TRYPTASE; TMTHGNC Approved Gene Symbol: TPSG1Cytogenetic location: 16p13.3 Genomic coordinates (GRCh3...

Alternative titles; symbols


HGNC Approved Gene Symbol: TPSG1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,221,650-1,226,453 (from NCBI)

▼ Description
Mast cell tryptases, such as TPSG1, are stored in secretory granules and are released upon mast cell activation. For further background information on the tryptase family, see TPSAB1 (191080).

▼ Cloning and Expression
Wong et al. (1999) cloned mouse Tpsg1, which they designated Tmt. By EST database analysis and 5-prime and 3-prime RACE of liver, uterus, cecum, and skin cDNA, they cloned human TMT. The deduced 321-amino acid human protein contains an N-terminal signal peptide, followed by a propeptide and a mature 284-amino acid sequence containing the catalytic domain and C-terminal transmembrane domains. TMT has 1 potential N-glycosylation site. The human protein shares 74% amino acid identity with the 311-amino acid mouse protein. PCR showed TMT expression in most human tissues analyzed, but it was not detected in skeletal muscle and adult spleen. Northern blot analysis of various mouse tissues detected predominant expression of Tmt in intestine. Immunocytochemical staining revealed human TMT within mast cells of large intestine and skin. At the ultrastructural level, most of the tryptase in the cutaneous mast cells resided in secretory granules.

By searching EST databases for sequences similar to tryptases, followed by PCR of a human lung cDNA library, Caughey et al. (2000) cloned TPSG1. The deduced 321-amino acid prepro-TPSG1 has a calculated molecular mass of about 33.7 kD. Caughey et al. (2000) predicted that the transmembrane region anchors the catalytic domain at its C terminus, resulting in the localization of the catalytic domain within the lumen of the endoplasmic reticulum, Golgi, and secretory granules, and on the cell surface if TPSG1 is targeted to the membrane. Within the tryptase family, TPSG1 shares highest similarity with prostasin (PRSS8; 600823) and testisin (PRSS21; 608159). Northern blot analysis detected TPSG1 in human mast cell lines, and PCR detected TPSG1 in several human tissues, including lung and small intestine. Western blot analysis of a mast cell line showed TPSG1 at an apparent molecular mass of about 31 kD. Immunohistochemical examination of human airway epithelium indicated that TPSG1 localizes to mast cell secretory granules.

▼ Gene Structure
Wong et al. (1999) determined that the human TPSG1 gene contains 5 exons and spans about 3 kb. The mouse Tpsg1 gene contains 5 exons and spans 3.7 kb. Caughey et al. (2000) determined that the TPSG1 gene contains 6 exons. The first exon is untranslated.

▼ Mapping
By analyzing hamster/human hybrid cell lines, Wong et al. (1999) mapped the TPSG1 gene to chromosome 16. Caughey et al. (2000) mapped the TPSG1 gene within the tryptase locus on chromosome 16p13.3 by BAC analysis. Wong et al. (1999) mapped the mouse Tpsg1 gene to the tryptase locus on chromosome 17.

Tags: 16p13.3