Homo sapiens Gene: TPSAB1
Summary
InnateDB Gene IDBG-8673.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TPSAB1
Gene Name tryptase alpha/beta 1
Synonyms TPS1; TPS2; TPSB1
Species Homo sapiens
Ensembl Gene ENSG00000172236
Encoded Proteins
tryptase alpha/beta 1
tryptase alpha/beta 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
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. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 16:1240696-1242554
Strand Forward strand
Band p13.3
Transcripts
ENST00000338844 ENSP00000343577
ENST00000461509 ENSP00000418247
ENST00000561736 ENSP00000456821
ENST00000562432
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
GO:0008236 serine-type peptidase activity
Biological Process
GO:0006508 proteolysis
GO:0006952 defense response
GO:0022617 extracellular matrix disassembly
GO:0030198 extracellular matrix organization
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Pathways
NETPATH
REACTOME
Activation of Matrix Metalloproteinases pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt P20231 Q15661
TrEMBL J3QTS8
UniProt Splice Variant
Entrez Gene 7177
UniGene Hs.405479 Hs.592982
RefSeq NM_003294
HUGO HGNC:12019
OMIM 191080 191081
CCDS CCDS10431
HPRD
IMGT
EMBL AC120498 AF098328 AF099143 AF099144 AF099145 AF099146 AF206665 AF206666 AF206667 BC029356 BC074974 FJ931116 FJ931117 FJ931118 FJ931120 M30038 M33491 M33492 M33493 M33494 M37488 S55551
GenPept AAA36778 AAA36779 AAA36780 AAA51843 AAA86934 AAC83172 AAD13876 AAD17846 AAD17857 AAD17858 AAD17859 AAD17860 AAG35695 AAG35696 AAG35697 AAH29356 AAH74974 ACZ98910 ACZ98911 ACZ98912 ACZ98913
RNA Seq Atlas 7177