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TPSAB1 tryptase alpha/beta 1 [ Homo sapiens (human) ]

Gene ID: 7177, updated on 3-Jan-2019

Summary

Official Symbol
TPSAB1provided by HGNC
Official Full Name
tryptase alpha/beta 1provided by HGNC
Primary source
HGNC:HGNC:12019
See related
Ensembl:ENSG00000172236 MIM:191080
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TPS1; TPS2; TPSB1; TPSB2; Tryptase-2
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]
Expression
Biased expression in gall bladder (RPKM 111.8), lung (RPKM 108.7) and 13 other tissues See more
Orthologs

Genomic context

See TPSAB1 in Genome Data Viewer
Location:
16p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (1240677..1242554)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1290678..1292555)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene calcium voltage-gated channel subunit alpha1 H Neighboring gene tryptase gamma 1 Neighboring gene tryptase beta 2 (gene/pseudogene) Neighboring gene tryptase delta 1 Neighboring gene serine protease 29, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Activation of Matrix Metalloproteinases, organism-specific biosystem (from REACTOME)
    Activation of Matrix Metalloproteinases, organism-specific biosystemThe matrix metalloproteinases (MMPs), previously known as matrixins, are classically known to be involved in the turnover of extracellular matrix (ECM) components. However, recent high throughput pro...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104064

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
defense response TAS
Traceable Author Statement
more info
PubMed 
extracellular matrix disassembly IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tryptase alpha/beta-1
Names
Tryptase II
Tryptase beta-2
epididymis secretory sperm binding protein
mast cell alpha II tryptase
mast cell beta I tryptase
tryptase alpha II
tryptase alpha-1
tryptase beta I
tryptase beta-1
tryptase-1
tryptase-I
tryptase-III
NP_003285.2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003294.4NP_003285.2  tryptase alpha/beta-1 precursor

    See identical proteins and their annotated locations for NP_003285.2

    Status: REVIEWED

    Source sequence(s)
    AC120498
    Consensus CDS
    CCDS10431.1
    UniProtKB/Swiss-Prot
    P20231, Q15661
    Related
    ENSP00000343577.3, ENST00000338844.7
    Conserved Domains (2) summary
    smart00020
    Location:31267
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:31268
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    1240677..1242554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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