TPSD1 Gene
protein-coding GIFtS: 47
GCID: GC16P001307
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tryptase delta 1
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Aliases
for TPSD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Tryptase Delta 11 2 | | Mast Cell Tryptase2 | | HmMCP-3-Like Tryptase III2 3 | | MMCP-7-Like Delta II Tryptase2 | | EC 3.4.21.593 8 | | Tryptase Delta2 | | MCP7L12 5 | | Tryptase-33 | | MCP7-LIKE2 | | Delta-Tryptase1 | | MMCP-7L2 | | Tryptase-33 | | Delta-Tryptase1 | | Mast Cell MMCP-7-Like3 | | MMCP-7-Like-11 | | EC 3.4.218 | | MMCP-7-Like-21 | | |
Export aliases for TPSD1 gene to outside databasesPrevious GC identifers: GC16P001322 GC16P001246 GC16P001235 |
Summaries
for TPSD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TPSD1:
Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymaticallyactive 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 distinctfeatures. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which arethought to play a role in regulation of the mRNA stability. Although this gene may be an exception, most of thetryptase genes have an intron immediately upstream of the initiator Met codon, which separates the site oftranscription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual inother genes. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic andinflammatory disorders. This gene was once considered to be a pseudogene, although it is now believed to be afunctional gene that encodes a protein. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3Function: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupledactivation-degranulation response of this cell type (By similarity)
Gene Wiki entry for TPSD1
|
Genomic Views
for TPSD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000016.9 NC_018927.1 NT_010393.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TPSD1 gene promoter:
Bach1 CREB AhR CP2 deltaCREB ATF-2 ZIC2/Zic2 XBP-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for TPSD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TPSD1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3TPSD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 16 GeneLoc Exon Structure GeneLoc location for GC16P001307: view genomic region
(about GC identifiers)
Start:
|
1,306,060 bp from pter |
End:
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1,308,532 bp from pter |
Size:
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2,473 bases |
Orientation:
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plus strand |
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Proteins
for TPSD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3 (See
protein sequence)Recommended Name: Tryptase delta precursor Size: 242 amino acids; 26584 Da
Subunit: Homotetramer (By similarity)
Subcellular location: Secreted (By similarity). Note=Released from the secretory granules upon mast cell activation (Bysimilarity)
Caution: Although PubMed:11174199 reported this as a pseudogene, PubMed:12391231 showed it is expressed and hasproteolytic activity when expressed in bacterial cells
Sequence caution: Sequence=AAD17861.1; Type=Erroneous initiation; Sequence=AAK12909.1; Type=Erroneous initiation;
Secondary accessions: O95824 Q8TDI6 Q96L36 Q96RZ5 Q9H2Y6 Q9UQI8Alternative splicing: 2 isoforms: Q9BZJ3-1 Q9BZJ3-2 Explore the universe of human proteins at neXtProt for TPSD1: NX_Q9BZJ3
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9BZJ3
4/15 DME Specific Peptides for TPSD1 (Q9BZJ3) (see all 15)
TPSD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036349.1
ENSEMBL proteins: ENSP00000380668 ENSP00000211076
Human Recombinant Protein Products for TPSD1:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- |
TPSD1 for ontologies About GeneDecksing
TPSD1 Antibody Products:
Assay Products for TPSD1: |
Protein
Domains /
Families
for TPSD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TPSD1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9BZJ3ProtoNet protein and cluster: Q9BZJ3 2 Blocks protein families: IPB001254 Serine protease IPB001314 Chymotrypsin serine protease family (S1) signature
UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3Similarity: Belongs to the peptidase S1 family. Tryptase subfamilySimilarity: Contains 1 peptidase S1 domain |
Function
for TPSD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: TRYD_HUMAN, Q9BZJ3Function: Tryptase is the major neutral protease present in mast cells and is secreted upon the coupledactivation-degranulation response of this cell type (By similarity)Catalytic activity: Preferential cleavage: Arg- -Xaa, Lys- -Xaa, but with more restricted specificity than trypsin Enzyme Numbers (IUBMB): EC 3.4.21.591 2 EC 3.4.212
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004252 | serine-type endopeptidase activity |
IEA | -- | | GO:0008236 | serine-type peptidase activity |
TAS | 9920877 |
TPSD1 for ontologies About GeneDecksing
Animal Models:
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPSD1
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|
Pathways & Interactions
for TPSD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TPSD1
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006508 | proteolysis |
IEA | -- |
TPSD1 for ontologies About GeneDecksing
|
Drugs & Compounds
for TPSD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Compounds for TPSD1 available from Tocris Bioscience About this table
| Compound | Action |
CAS
# |
|---|
| APC 366 | Tryptase inhibitor | [178925-65-0] |
2 HMDB Compounds for TPSD1 About this table
Search CenterWatch for drugs/clinical trials and news about TPSD1 / TRYD
|
Transcripts
for TPSD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TPSD1 gene: NM_012217.2 Unigene Cluster for TPSD1: Tryptase delta 1 Hs.677789 [show with all ESTs]Unigene Representative Sequence: BM9192682 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000397534(uc010brm.1 uc002clb.1) ENST00000211076
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TPSD1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
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Additional cDNA sequence: AF206664.1 AF421357.1 AY055427.1 BC069143.1 3 DOTS entries: DT.446428 DT.100749578 DT.98131726 24/124 AceView cDNA sequences (see all 124): NM_003294 BM708916 AF206664 AI799627 NM_012217 M33491 BC065923 BG697540 M37488 AF206667 CA867461 BV207475 BV207482 M33492 BV183385 CD671891 BU073263 BI819421 CD672689 BV207480 BC074974 BV185679 BQ082929 AY055427
GeneLoc Exon Structure
|
Expression
for TPSD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TPSD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTGTGCGG
About this image
See TPSD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TPSD1
SOURCE GeneReport for Unigene cluster: Hs.677789
UniProtKB/Swiss-Prot: TRYD_HUMAN, Q9BZJ3Tissue specificity: Expressed in colon, lung, heart and synovial tissue. May be specific to mast cells
SABiosciences Custom PCR Arrays for TPSD1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TPSD1
Browse OriGene validated miRNA SYBR primer pairs
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Orthologs
for TPSD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TPSD1 gene from 1/12 species (see all 12) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG16326 |
-- |
4(a) |
possible ortholog |
X(8146705-8166495) |
ENSEMBL Gene Tree for TPSD1 (if available)
TreeFam Gene Tree for TPSD1 (if available) |
Paralogs
for TPSD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TPSD1 gene
- PRSS462 PRSS552 PRSS482 PRSS222 PRSS272 PRSS212 PRSS452 TPSG12
- PRSS382 TPSAB12 PRSS532 PRSS502 PRSS422 PRSS362 PRSS332 KLKB12
- PRSS82 F112 OVCH12
18/77 SIMAP similar genes for TPSD1 using alignment to 1 protein entry: TRYD_HUMAN(see all similar genes):TPSAB1 TPSB2 tryptaseB tryptaseC PRSS29P TPSG1
PRSS45 CELA1 CELA2B ELA2B PRSS33 CELA2A
CELA3A CTRB1 CTRB2 ELA3A OVCH1 PRSS22
TPSD1 for paralogs About GeneDecksing
|
Genomic Variants
for TPSD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 16 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TPSD1 (1306060 - 1308532 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for TPSD1
5 CNVs: 29991 5810 4915 5329 29995
1 Inversion: 37174 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TPSD1 |
|
Disorders
/ Diseases
for TPSD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TPSD1 for disorders About GeneDecksing
OMIM gene information: 609272
OMIM disorders: --
1  disease for TPSD1: About MalaCardsasthma
Export disorders for TPSD1 gene to outside databases
|
Publications
for TPSD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TPSD1 gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with TPSD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Characterization of genes encoding known and novel human mast cell tryptases on chromosome 16p13.3. (PubMed id 9920877)1, 2, 3 Pallaoro M....Caughey G.H. (1999)
- Delta tryptase is expressed in multiple human tissues, and a recombinant form has proteolytic activity. (PubMed id 12391231)1, 2, 9 Wang H.-W.... Hunt J.E. (2002)
- Alternate mRNA splicing in multiple human tryptase genes is predicted to regulate tetramer formation. (PubMed id 18854315)1, 2 Jackson N.E....Hunt J.E. (2008)
- Human mouse mast cell protease 7-like tryptase genes are pseudogenes. (PubMed id 11174199)1, 2 Min H.-K.... Schwartz L.B. (2001)
- Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (2001)
- Chimerism, point mutation, and truncation dramatically transformed mast cell delta-tryptases during primate evolution. (PubMed id 18325577)1, 9 Trivedi N.N....Caughey G.H. (2008)
- Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations. (PubMed id 19748655)1 Trivedi N.N....Caughey G.H. (2009)
- Mast cell alpha and beta tryptases changed rapidly during primate speciation and evolved from gamma-like transmembrane peptidases in ancestral vertebrates. (PubMed id 17947681)1 Trivedi N.N....Caughey G.H. (2007)
- Tryptase genetics and anaphylaxis. (PubMed id 16751005)1 Caughey G.H. (2006)
- The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (2004)
|
External Searches for TPSD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TPSD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TPSD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TPSD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TPSD1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TPSD1 gene:
Search GeneIP for patents involving TPSD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TPSD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
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