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Aliases for TASP1 Gene

Aliases for TASP1 Gene

  • Taspase 1 2 3 5
  • Taspase-1 3 4
  • C20orf13 3 4
  • Chromosome 20 Open Reading Frame 13 2
  • Threonine Aspartase 2
  • EC 3.4.25.- 4
  • DJ585I14.2 3

External Ids for TASP1 Gene

Previous HGNC Symbols for TASP1 Gene

  • C20orf13

Previous GeneCards Identifiers for TASP1 Gene

  • GC20M013319

Summaries for TASP1 Gene

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 1) is a Protein Coding gene. GO annotations related to this gene include hydrolase activity and threonine-type endopeptidase activity. An important paralog of this gene is AGA.

UniProtKB/Swiss-Prot for TASP1 Gene

  • Protease involved in KMT2A/MLL1 processing and, consequently, in the correct expression of the early HOXA gene cluster.

Gene Wiki entry for TASP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TASP1 Gene

Genomics for TASP1 Gene

Regulatory Elements for TASP1 Gene

Enhancers for TASP1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TASP1 on UCSC Golden Path with GeneCards custom track

Promoters for TASP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TASP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TASP1 Gene

Chromosome:
20
Start:
13,389,389 bp from pter
End:
13,638,940 bp from pter
Size:
249,552 bases
Orientation:
Minus strand

Genomic View for TASP1 Gene

Genes around TASP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TASP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TASP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TASP1 Gene

Proteins for TASP1 Gene

  • Protein details for TASP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6P5-TASP1_HUMAN
    Recommended name:
    Threonine aspartase 1
    Protein Accession:
    Q9H6P5
    Secondary Accessions:
    • B7Z690
    • B7Z963
    • Q5TDU9
    • Q9BQN0
    • Q9NQ08
    • Q9NTS6
    • Q9NXJ2

    Protein attributes for TASP1 Gene

    Size:
    420 amino acids
    Molecular mass:
    44455 Da
    Quaternary structure:
    • Intramolecular proteolysis generates 2 subunits, alpha and beta, which reassemble through a non-covalent association to form the fully active enzyme.
    SequenceCaution:
    • Sequence=CAC01509.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TASP1 Gene

    Alternative splice isoforms for TASP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TASP1 Gene

Proteomics data for TASP1 Gene at MOPED

Post-translational modifications for TASP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TASP1 Gene

No data available for DME Specific Peptides for TASP1 Gene

Domains & Families for TASP1 Gene

Protein Domains for TASP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6P5

UniProtKB/Swiss-Prot:

TASP1_HUMAN :
  • Belongs to the Ntn-hydrolase family.
Family:
  • Belongs to the Ntn-hydrolase family.
genes like me logo Genes that share domains with TASP1: view

No data available for Gene Families for TASP1 Gene

Function for TASP1 Gene

Molecular function for TASP1 Gene

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

Enzyme Numbers (IUBMB) for TASP1 Gene

genes like me logo Genes that share phenotypes with TASP1: view

Animal Models for TASP1 Gene

MGI Knock Outs for TASP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TASP1

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TASP1 Gene

Localization for TASP1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TASP1 Gene COMPARTMENTS Subcellular localization image for TASP1 gene
Compartment Confidence
cytosol 2
nucleus 2
plasma membrane 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TASP1 Gene

Pathways & Interactions for TASP1 Gene

SuperPathways for TASP1 Gene

No Data Available

Interacting Proteins for TASP1 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000338624%0d%0a9606.ENSP00000452454%0d%0a9606.ENSP00000436786%0d%0a9606.ENSP00000382133%0d%0a
Selected Interacting proteins: ENSP00000338624 Q9H6P5-TASP1_HUMAN for TASP1 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with TASP1: view

No data available for Pathways by source and SIGNOR curated interactions for TASP1 Gene

Drugs & Compounds for TASP1 Gene

No Compound Related Data Available

Transcripts for TASP1 Gene

Unigene Clusters for TASP1 Gene

Taspase, threonine aspartase, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TASP1 Gene

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

Relevant External Links for TASP1 Gene

GeneLoc Exon Structure for
TASP1
ECgene alternative splicing isoforms for
TASP1

Expression for TASP1 Gene

mRNA expression in normal human tissues for TASP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TASP1 Gene

This gene is overexpressed in Artery - Tibial (x5.5).

Protein differential expression in normal tissues from HIPED for TASP1 Gene

This gene is overexpressed in Ovary (20.2), Lung (19.9), and Peripheral blood mononuclear cells (16.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TASP1 Gene



SOURCE GeneReport for Unigene cluster for TASP1 Gene Hs.348297

genes like me logo Genes that share expression patterns with TASP1: view

Protein tissue co-expression partners for TASP1 Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TASP1 Gene

Orthologs for TASP1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TASP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TASP1 35
  • 91.75 (n)
  • 97.38 (a)
C20ORF13 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TASP1 35
  • 94.6 (n)
  • 97.86 (a)
TASP1 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tasp1 35
  • 91.9 (n)
  • 94.52 (a)
Tasp1 16
Tasp1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TASP1 35
  • 99.44 (n)
  • 99.76 (a)
TASP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tasp1 35
  • 91.19 (n)
  • 94.05 (a)
oppossum
(Monodelphis domestica)
Mammalia TASP1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TASP1 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves TASP1 35
  • 82.16 (n)
  • 91.28 (a)
TASP1 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TASP1 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tasp1 35
  • 77.88 (n)
  • 84.62 (a)
zebrafish
(Danio rerio)
Actinopterygii tasp1 35
  • 74.1 (n)
  • 78.74 (a)
tasp1 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002531 35
  • 46.91 (n)
  • 46.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta Taspase1 35
  • 47.35 (n)
  • 42.9 (a)
Taspase1 36
  • 41 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K01G5.9 35
  • 44.5 (n)
  • 36.5 (a)
K01G5.9 36
  • 28 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G00590 35
  • 46.95 (n)
  • 40.29 (a)
rice
(Oryza sativa)
Liliopsida Os04g0682500 35
  • 45.83 (n)
  • 40.28 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01757 35
  • 46.49 (n)
  • 40.36 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC823.09c 35
  • 45.19 (n)
  • 35.28 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for TASP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TASP1 Gene

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

Paralogs for TASP1 Gene

Paralogs for TASP1 Gene

(1) SIMAP similar genes for TASP1 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for TASP1 Gene

genes like me logo Genes that share paralogs with TASP1: view

Variants for TASP1 Gene

Sequence variations from dbSNP and Humsavar for TASP1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1012242 -- 13,536,064(+) AATCT(C/T)GGGTA intron-variant
rs1024208 -- 13,554,099(+) GAATG(C/T)AGATG intron-variant
rs1028849 -- 13,553,274(+) aatat(G/T)taaag intron-variant
rs743183 -- 13,416,580(-) GTCTG(A/T)TACAG intron-variant
rs1812562 -- 13,393,533(+) AGTGA(C/T)ACCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TASP1 Gene

Variant ID Type Subtype PubMed ID
esv29075 CNV Gain 19812545
nsv178651 CNV Loss 16902084
nsv520595 CNV Loss 19592680
esv1922220 CNV Deletion 18987734
nsv912687 CNV Loss 21882294
nsv912688 CNV Loss 21882294
nsv912689 CNV Gain 21882294
esv2674371 CNV Deletion 23128226

Variation tolerance for TASP1 Gene

Residual Variation Intolerance Score: 43.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TASP1 Gene

HapMap Linkage Disequilibrium report
TASP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TASP1 Gene

Disorders for TASP1 Gene

Relevant External Links for TASP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TASP1

No disorders were found for TASP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TASP1 Gene

Publications for TASP1 Gene

  1. Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression. (PMID: 14636557) Hsieh J.J.-D. … Korsmeyer S.J. (Cell 2003) 2 3 4 67
  2. EPS15R, TASP1, and PRPF3 are novel disease candidate genes targeted by HNF4alpha splice variants in hepatocellular carcinomas. (PMID: 18395097) Niehof M. … Borlak J. (Gastroenterology 2008) 3 23
  3. Taspase1 processing alters TFIIA cofactor properties in the regulation of TFIID. (PMID: 25996597) MalecovA! B. … OelgeschlAoger T. (Transcription 2015) 3
  4. Overexpression of the catalytically impaired Taspase1 T234V or Taspase1 D233A variants does not have a dominant negative effect in T(4;11) leukemia cells. (PMID: 22570686) Bier C. … Stauber R.H. (PLoS ONE 2012) 3
  5. Chemico-genetic strategies to inhibit the leukemic potential of threonine aspartase-1. (PMID: 22829979) WA1nsch D. … Stauber R. (Blood Cancer J 2012) 3

Products for TASP1 Gene

Sources for TASP1 Gene

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