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

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: all
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Genomic context

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_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals.
Title: Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals.
Heritable risk for severe anaphylaxis associated with increased alpha-tryptase-encoding germline copy number at TPSAB1.
Title: Heritable risk for severe anaphylaxis associated with increased α-tryptase-encoding germline copy number at TPSAB1.
Hereditary alpha tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.
Title: Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.
Mast Cell beta-Tryptase Is Enzymatically Stabilized by DNA.
Title: Mast Cell β-Tryptase Is Enzymatically Stabilized by DNA.
Adipose Tissue Mast Cells Promote Human Adipose Beiging in Response to Cold.
Title: Adipose Tissue Mast Cells Promote Human Adipose Beiging in Response to Cold.
Allosteric effects of alpha-tryptase protomers on neighboring beta-tryptase protomers likely result in the novel substrate repertoire of alpha/beta-tryptase tetramers that in turn cause some of the clinical features of hereditary alpha-tryptasemia and of other disorders involving mast cells.
Title: Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.
The patient-specific 3D microtissues reveal a cascade of interactions between prostatic cancer-associated fibroblast, their native extensive extracellular matrix and mast cell-derived tryptase, rendering them important microenvironmental drivers of prostate cancer progression.
Title: Tissue engineered human prostate microtissues reveal key role of mast cell-derived tryptase in potentiating cancer-associated fibroblast (CAF)-induced morphometric transition in vitro.
Basal serum tryptase in children with actual drug hypersensitivity is not a risk factor for severe systemic reactions
Title: Basal serum tryptase is not a risk factor for immediate-type drug hypersensitivity during childhood.
Increased TPSAB1 copy number is associated with multisystem disorder.
Title: Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
this study shows that active cow's milk-induced enterocolitis syndrome children have higher serum tryptase levels compared to resolved disease
Title: Humoral and cellular responses to casein in patients with food protein-induced enterocolitis to cow's milk.

Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH78261 (e-PCR)
- UniSTS:14684

RH78935 (e-PCR)
- UniSTS:60270

RH69115 (e-PCR)
- UniSTS:61561

RH80805 (e-PCR)
- UniSTS:89216

NoName (e-PCR)
- UniSTS:482183

NoName (e-PCR)
- UniSTS:480727

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in defense response	TAS Traceable Author Statement more info	PubMed
involved_in extracellular matrix disassembly	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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

EC 3.4.21.59

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)

NM_003294.4 → NP_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:31 → 268

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 ...