TPSD1 tryptase delta 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPSD1provided by HGNC
Official Full Name: tryptase delta 1provided by HGNC
Primary source: HGNC:HGNC:14118
See related: Ensembl:ENSG00000095917 MIM:609272; AllianceGenome:HGNC:14118
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: MCP7L1; MMCP-7L; MCP7-LIKE
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. Although this gene may be an exception, most of the tryptase 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. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be a functional gene that encodes a protein. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lung (RPKM 15.2), gall bladder (RPKM 13.3) and 13 other tissues See more
Orthologs: all
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Genomic context

Location:: 16p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (1256069..1259008)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (1271757..1275049)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (1306070..1309009)

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: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increase in TPSB2 and TPSD1 Expression in Synovium of Hip Osteoarthritis Patients Who Are Overweight.
Title: Increase in TPSB2 and TPSD1 Expression in Synovium of Hip Osteoarthritis Patients Who Are Overweight.
Delta tryptase transcripts have been detected in a wide variety of tissues including lung, heart, stomach, spleen, skin, and colon, and a recombinant form is proteolytically active.
Title: Delta tryptase is expressed in multiple human tissues, and a recombinant form has proteolytic activity.

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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

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-02-03) ClinGen Genome Curation Page Haploinsufficency Dosage sensitivity unlikely (Last evaluated 2021-02-03) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: tryptase delta

Names: delta-tryptase; hmMCP-3-like tryptase III; mMCP-7-like delta II tryptase; mMCP-7-like-1; mMCP-7-like-2; mast cell tryptase; tryptase-3

NP_036349.1

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_012217.3 → NP_036349.1 tryptase delta precursor

See identical proteins and their annotated locations for NP_036349.1

Status: REVIEWED

Source sequence(s)

AC120498

Consensus CDS

CCDS10432.1

UniProtKB/Swiss-Prot

O95824, Q8TDI6, Q96L36, Q96RZ5, Q9BZJ3, Q9H2Y6, Q9UQI8

UniProtKB/TrEMBL

A0A0C4DFZ7

Related

ENSP00000211076.3, ENST00000211076.5

Conserved Domains (2) summary

smart00020
Location:38 → 240

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:38 → 242

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 ...