TPSD1
| TPSD1 | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
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| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 16: 1.26 – 1.26 Mb | Chr 17: 25.59 – 25.59 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Tryptase delta is an enzyme that in humans is encoded by the TPSD1 gene.[5][6]
Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the
mRNA stability. Although this gene may be an exception, most of the tryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein.[6]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000095917 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033825 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 9920877.
- ^ a b "Entrez Gene: TPSD1 tryptase delta 1".
Further reading
- Caughey GH (2006). "Tryptase genetics and anaphylaxis". J. Allergy Clin. Immunol. 117 (6): 1411–4. PMID 16751005.
- Caughey GH (2003). "New developments in the genetics and activation of mast cell proteases". Mol. Immunol. 38 (16–18): 1353–7. PMID 12217407.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Wang HW, McNeil HP, Husain A, et al. (2002). "Delta tryptase is expressed in multiple human tissues, and a recombinant form has proteolytic activity". J. Immunol. 169 (9): 5145–52. PMID 12391231.
- Soto D, Malmsten C, Blount JL, et al. (2003). "Genetic deficiency of human mast cell alpha-tryptase". Clin. Exp. Allergy. 32 (7): 1000–6. S2CID 83740303.
- Min HK, Kambe N, Schwartz LB (2001). "Human mouse mast cell protease 7-like tryptase genes are pseudogenes". J. Allergy Clin. Immunol. 107 (2): 315–21. PMID 11174199.
- Daniels RJ, Peden JF, Lloyd C, et al. (2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. Mol. Genet. 10 (4): 339–52. PMID 11157797.
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