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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TASP1 Gene

protein-coding   GIFtS: 50
GCID: GC20M013319

Taspase, Threonine Aspartase, 1

(Previous name: chromosome 20 open reading frame 13)
(Previous symbol: C20orf13)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Taspase, Threonine Aspartase, 11 2     taspase-12
C20orf131 2 3 5     Threonine Aspartase 12
Chromosome 20 Open Reading Frame 131     EC 3.4.25.-3
dJ585I14.22     Taspase-13
Taspase 12     

External Ids:    HGNC: 158591   Entrez Gene: 556172   Ensembl: ENSG000000891237   OMIM: 6082705   UniProtKB: Q9H6P53   

Export aliases for TASP1 gene to outside databases


(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 TASP1 Gene:
This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded
protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which
reassemble into the active alpha2-beta2 heterotetramer. It is required to cleave MLL, a protein required for the
maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript
variants have been described, but their biological validity has not been determined. (provided by RefSeq, Jul
2008)

GeneCards Summary for TASP1 Gene: 
TASP1 (taspase, threonine aspartase, 1) is a protein-coding gene. Diseases associated with TASP1 include hepatocellular carcinoma, and leukemia. GO annotations related to this gene include threonine-type endopeptidase activity. An important paralog of this gene is AGA.

UniProtKB/Swiss-Prot: TASP1_HUMAN, Q9H6P5
Function: Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early
HOXA gene cluster

Gene Wiki entry for TASP1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TASP1 gene promoter:
         GR   STAT5B   GR-beta   CREB   FAC1   POU2F1   deltaCREB   POU2F1a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTASP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TASP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TASP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p12.1   Ensembl cytogenetic band:  20p12.1   HGNC cytogenetic band: 20p12

TASP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TASP1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M013319:  view genomic region     (about GC identifiers)

Start:
13,246,709 bp from pter      End:
13,619,587 bp from pter
Size:
372,879 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TASP1_HUMAN, Q9H6P5 (See protein sequence)
Recommended Name: Threonine aspartase 1  
Size: 420 amino acids; 44455 Da
Subunit: Intramolecular proteolysis generates 2 subunits, alpha and beta, which reassemble through a non-covalent
association to form the fully active enzyme
Sequence caution: Sequence=CAC01509.1; Type=Erroneous gene model prediction;
4 PDB 3D structures from and Proteopedia for TASP1:
2A8I (3D)        2A8J (3D)        2A8L (3D)        2A8M (3D)    
Secondary accessions: Q5TDU9 Q9BQN0 Q9NQ08 Q9NTS6 Q9NXJ2

Explore the universe of human proteins at neXtProt for TASP1: NX_Q9H6P5

Explore proteomics data for TASP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H6P5

  • TASP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TASP1 Protein Expression
    REFSEQ proteins: NP_060184.2  
    ENSEMBL proteins: 
     ENSP00000338624   ENSP00000400580   ENSP00000387574   ENSP00000444062   ENSP00000443603  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000246 Peptidase_T2

    Graphical View of Domain Structure for InterPro Entry Q9H6P5

    ProtoNet protein and cluster: Q9H6P5

    1 Blocks protein domain: IPB000246 Asparaginase 2 family

    UniProtKB/Swiss-Prot: TASP1_HUMAN, Q9H6P5
    Similarity: Belongs to the Ntn-hydrolase family


    TASP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TASP1_HUMAN, Q9H6P5
    Function: Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early
    HOXA gene cluster

         Enzyme Number (IUBMB): EC 3.4.25.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004298threonine-type endopeptidase activity IMP14636557
    GO:0016787hydrolase activity ----
         
    TASP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TASP1:
     Increased gamma-H2AX phosphory 

         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Tasp1):
     behavior/neurological  cellular  embryogenesis  growth/size  hematopoietic system 
     immune system  mortality/aging  skeleton 

    TASP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tasp1tm1.1Jjdh for TASP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TASP1 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TASP1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for TASP1 (Q9H6P53 ENSP000003386244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2A1P526553, ENSP000002981734I2D: score=1 STRING: ENSP00000298173
    KMT2AQ031643I2D: score=1 
    --ENSP000003522624STRING: ENSP00000352262
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0045893positive regulation of transcription, DNA-dependent IMP14636557

    TASP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TASP1

    Search CenterWatch for drugs/clinical trials and news about TASP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TASP1 gene: 
    NM_017714.2  

    Unigene Cluster for TASP1:

    Taspase, threonine aspartase, 1
    Hs.348297  [show with all ESTs]
    Unigene Representative Sequence: NM_017714
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480436 ENST00000337743(uc002woi.3 uc010zrj.1) ENST00000465381
    ENST00000455532 ENST00000476108 ENST00000483898 ENST00000434275 ENST00000539805(uc010zri.1)
    ENST00000544472(uc010zrk.2)
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    SwitchGear 3'UTR luciferase reporter plasmidTASP1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TASP1

    Additional mRNA sequence: 

    AK000219.1 AK025671.1 AK299940.1 AK304488.1 AK316311.1 BC025266.1 

    9 DOTS entries:

    DT.40117954  DT.91713048  DT.91713052  DT.97837989  DT.100785947  DT.120818420  DT.95282471  DT.100702800 
    DT.100800498 

    24/83 AceView cDNA sequences (see all 83):

    AL555799 CA418131 CK826387 CD643611 AI261690 BQ014676 AA261819 CA311191 
    BG563036 CR612407 BM842460 BP351952 BU789659 BX107020 BC025266 AI793006 
    CR598923 AA774542 AA328236 BX324479 BX393947 BU789931 BX442313 BG196906 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TASP1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -     -           -                                                         
    SP2:                                                                                                


    ECgene alternative splicing isoforms for TASP1

    (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

    TASP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTCGGAT
    TASP1 Expression
    About this image


    See TASP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TASP1

    SOURCE GeneReport for Unigene cluster: Hs.348297
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    In Situ
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    (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 eukaryotes.

    Orthologs for TASP1 gene from 8/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tasp11 , 5 taspase, threonine aspartase 11, 5 91.9(n)1
    94.52(a)1
      2 (69.20 cM)5
    758121  NM_001159640.11  NP_001153112.11 
     1398334805 
    chicken
    (Gallus gallus)
    Aves TASP11 taspase, threonine aspartase, 1 82.16(n)
    91.28(a)
      416741  NM_001012790.1  NP_001012808.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    94(a)
    90(a)
    1 ↔ many
    1 ↔ many
    AAWZ02037244(5258-13331)
    1(129148805-129218466)
    zebrafish
    (Danio rerio)
    Actinopterygii tasp11 taspase, threonine aspartase, 1 75.02(n)
    80.32(a)
      566980  NM_001100953.1  NP_001094423.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Taspase11 Taspase 1 46.97(n)
    42.9(a)
      39757  NM_140575.3  NP_648832.1 
    worm
    (Caenorhabditis elegans)
    Secernentea K01G5.96
    Protein K01G5.9
    25(a)
    1 ↔ 1
    III(10759350-10763013)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G005901 putative isoaspartyl peptidase/L-asparaginase 4 subunit more 45.48(n)
    38.42(a)
      827968  NM_116284.4  NP_191968.3 
    rice
    (Oryza sativa)
    Liliopsida Os04g06825001 hypothetical protein 44.94(n)
    40.37(a)
      4337439  NM_001060832.1  NP_001054297.1 


    ENSEMBL Gene Tree for TASP1 (if available)
    TreeFam Gene Tree for TASP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TASP1 gene
    AGA2  ASRGL12  
    1 SIMAP similar gene for TASP1 using alignment to 5 protein entries:     TASP1_HUMAN (see all proteins):
    ASRGL1

    TASP1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TASP1
    PGOHUM00000258816 PGOHUM00000258929


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/5067 SNPs in TASP1 are shown (see all 5067)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1919268431,2
    --13369613(+) ATGGTA/GCAGGG 1 -- ds50010--------
    rs1838000571,2
    --13369655(+) GTATCA/TTCTTG 1 -- ds50010--------
    rs1860044501,2
    --13369662(+) CTTGAC/TAACCA 1 -- ds50010--------
    rs1903321851,2
    --13369780(+) TATCGA/CGCTTT 1 -- ds50010--------
    rs61050821,2
    C,F,A,H--13369884(+) ATTGAG/CCATTC 1 -- ds500117Minor allele frequency- C:0.14NS EA NA WA 894
    rs1432688721,2
    --13369913(+) ACTTGC/TATCTT 1 -- ds50010--------
    rs61314691,2
    H--13369923(+) TGCCAG/ATGTCT 1 -- ds50014Minor allele frequency- A:0.00NS EA 420
    rs124795201,2
    C,F,H--13370707(+) TTTAAC/TCATTC 1 -- ut3112Minor allele frequency- T:0.01NS EA NA 1250
    rs1467046251,2
    C--13370747(+) ATCCAC/TGGAGA 1 -- ut310--------
    rs37479321,2
    C--13370791(-) GTATGC/TGCGCA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TASP1 (13246709 - 13496709 bp, first 250kb of TASP1)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for TASP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2674371CNV Deletion23128226
    esv1922220CNV Deletion18987734
    nsv912688CNV Loss21882294
    nsv912687CNV Loss21882294
    nsv520595CNV Loss19592680
    nsv178651CNV Loss16902084
    esv29075CNV Gain19812545
    nsv912689CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608270    OMIM disorders: --

    2 diseases for TASP1:    About MalaCards
    hepatocellular carcinoma    leukemia


    TASP1 for disorders           About GeneDecksing


    Export disorders for TASP1 gene to outside databases

    (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)
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    PubMed articles for TASP1 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with TASP1)
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    1. Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression. (PubMed id 14636557)1, 2, 3 Hsieh J.J.-D.... Korsmeyer S.J. (2003)
    2. Crystal structure of human Taspase1, a crucial protease regulating the function of MLL. (PubMed id 16216576)1, 2 Khan J.A.... Tong L. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas. (PubMed id 18395097)1, 9 Niehof M. and Borlak J. (2008)
    7. Overexpression of the catalytically impaired Taspase1 T234V or Taspase1 D233A variants does not have a dominant negative effect in T(4 ;11) leukemia cells. (PubMed id 22570686)1 Bier C....Stauber R.H. (2012)
    8. Cell-based analysis of structure-function activity of threonine aspartase 1. (PubMed id 21084304)1 Bier C....Stauber R.H. (2011)
    9. The importin-alpha/nucleophosmin switch controls tasp ase1 protease function. (PubMed id 21418451)1 Bier C....Stauber R.H. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55617 HGNC: 15859 AceView: C20orf13 Ensembl:ENSG00000089123 euGenes: HUgn55617
    ECgene: TASP1 H-InvDB: TASP1

    (According to HUGE)
    About This Section
      --

    (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
    NameDescription
    PharmGKB entry for TASP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TASP1 gene:
    Search GeneIP for patents involving TASP1

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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