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

Gene ID: 7177, updated on 10-Dec-2024

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; AllianceGenome:HGNC:12019
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
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Genomic context

See TPSAB1 in Genome Data Viewer
Location:
16p13.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (1240705..1242554)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (1259422..1261271, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1290706..1292555)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903621 Neighboring gene tryptase gamma 1 Neighboring gene tryptase beta 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1288568-1289150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:1289151-1289731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:1299161-1299692 Neighboring gene tryptase delta 1 Neighboring gene serine protease 29, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

General gene information

Clone Names

  • MGC104064

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding PubMed 
enables protein binding PubMed 
enables serine-type endopeptidase activity  
enables serine-type endopeptidase activity PubMed 
enables serine-type peptidase activity PubMed 
Process Evidence Code Pubs
involved_in defense response PubMed 
involved_in extracellular matrix disassembly PubMed 
involved_in proteolysis  

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
mast cell 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)

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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
    D2E6R9, D2E6S1, P15157, Q15661, Q15663, Q6B052, Q9H2Y4, Q9H2Y5, Q9UQI1
    UniProtKB/TrEMBL
    A0A384MTT9, Q6B051
    Related
    ENSP00000343577.3, ENST00000338844.8
    Conserved Domains (1) summary
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    1240705..1242554
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    1259422..1261271 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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