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TPSD1 tryptase delta 1 [ Homo sapiens (human) ]

Gene ID: 23430, updated on 23-Nov-2021

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
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
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Genomic context

See TPSD1 in Genome Data Viewer
Location:
16p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (1256069..1259008)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (1306070..1309009)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene tryptase beta 2 Neighboring gene tryptase alpha/beta 1 Neighboring gene serine protease 29, pseudogene Neighboring gene tryptase pseudogene 1

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

Phenotypes

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

General gene information

Markers

Homology

Clone Names

  • MGC95428

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables serine-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

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_012217.3NP_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
    Q9BZJ3
    Related
    ENSP00000211076.3, ENST00000211076.5
    Conserved Domains (2) summary
    smart00020
    Location:38240
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:38242
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    1256069..1259008
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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