TPSAB1

Tryptase alpha-1 and tryptase beta-1 are enzymes that in humans are encoded by the same TPSAB1 gene.[5][6] Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate.[7]

TPSAB1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTPSAB1, TPS1, TPS2, TPSB1, tryptase alpha/beta 1, TPSB2, Tryptase-2
External IDsOMIM: 191080 MGI: 96942 HomoloGene: 55729 GeneCards: TPSAB1
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p13.3Start1,240,705 bp[1]
End1,242,554 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

7177

17229

Ensembl

ENSG00000172236

ENSMUSG00000033825

UniProt

P20231
Q15661

P21845

RefSeq (mRNA)

NM_003294

NM_010781

RefSeq (protein)

NP_077078
NP_003285

NP_034911

Location (UCSC)Chr 16: 1.24 – 1.24 MbChr 17: 25.37 – 25.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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. These 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. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1.Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000172236 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000033825 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Miller JS, Moxley G, Schwartz LB (Oct 1990). "Cloning and characterization of a second complementary DNA for human tryptase". J Clin Invest. 86 (3): 864–70. doi:10.1172/JCI114786. PMC 296804. PMID 2203827.
  6. Pallaoro M, Fejzo MS, Shayesteh L, Blount JL, Caughey GH (Feb 1999). "Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3". J Biol Chem. 274 (6): 3355–62. doi:10.1074/jbc.274.6.3355. PMID 9920877.
  7. "Entrez Gene: TPSAB1 tryptase alpha/beta 1".

Further reading


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