Human Gene TPSD1 (uc002clb.1)
  Description: Homo sapiens tryptase delta 1 (TPSD1), mRNA.
RefSeq Summary (NM_012217): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:1,306,273-1,308,494 Size: 2,222 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr16:1,306,282-1,308,377 Size: 2,096 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:1,306,273-1,308,494)mRNA (may differ from genome)Protein (242 aa)
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HGNCHPRDLynxMGIneXtProtOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRYD_HUMAN
DESCRIPTION: RecName: Full=Tryptase delta; EC=3.4.21.59; AltName: Full=Delta-tryptase; AltName: Full=HmMCP-3-like tryptase III; AltName: Full=Mast cell mMCP-7-like; AltName: Full=Tryptase-3; Flags: Precursor;
FUNCTION: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupled activation-degranulation response of this cell type (By similarity).
CATALYTIC ACTIVITY: Preferential cleavage: Arg-|-Xaa, Lys-|-Xaa, but with more restricted specificity than trypsin.
SUBUNIT: Homotetramer (By similarity).
SUBCELLULAR LOCATION: Secreted (By similarity). Note=Released from the secretory granules upon mast cell activation (By similarity).
TISSUE SPECIFICITY: Expressed in colon, lung, heart and synovial tissue. May be specific to mast cells.
SIMILARITY: Belongs to the peptidase S1 family. Tryptase subfamily.
SIMILARITY: Contains 1 peptidase S1 domain.
CAUTION: Although PubMed:11174199 reported this as a pseudogene, PubMed:12391231 showed it is expressed and has proteolytic activity when expressed in bacterial cells.
SEQUENCE CAUTION: Sequence=AAD17861.1; Type=Erroneous initiation; Sequence=AAK12909.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.20 RPKM in Bladder
Total median expression: 60.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -39.20117-0.335 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00089 - Trypsin
PF13365 - Trypsin-like peptidase domain

SCOP Domains:
50494 - Trypsin-like serine proteases

ModBase Predicted Comparative 3D Structure on Q9BZJ3
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis

Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  BC069143 - Homo sapiens tryptase delta 1, mRNA (cDNA clone MGC:95428 IMAGE:7217003), complete cds.
AF421357 - Homo sapiens delta I tryptase mRNA, partial cds, alternatively spliced.
DL490598 - Novel nucleic acids.
AF206664 - Homo sapiens mast cell mMCP-7-like delta II tryptase mRNA, partial cds.
AY055427 - Homo sapiens delta I tryptase mRNA, partial cds.
DL491383 - Novel nucleic acids.
DL490011 - Novel nucleic acids.
JD126238 - Sequence 107262 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: NM_012217, NP_036349, O95824, Q8TDI6, Q96L36, Q96RZ5, Q9BZJ3, Q9H2Y6, Q9UQI8, TRYD_HUMAN
UCSC ID: uc002clb.1
RefSeq Accession: NM_012217
Protein: Q9BZJ3 (aka TRYD_HUMAN)
CCDS: CCDS10432.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_012217.2
exon count: 5CDS single in 3' UTR: no RNA size: 855
ORF size: 729CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1658.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.