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 ba... See more...

Aliases for TASP1 Gene

Aliases for TASP1 Gene

  • Taspase 1 2 3 5
  • Threonine Aspartase 1 3 4
  • DJ585I14.2 2 3
  • C20orf13 3 4
  • Chromosome 20 Open Reading Frame 13 2
  • Threonine Aspartase 2
  • EC 3.4.25.- 4
  • Taspase-1 4
  • FLJ20212 2
  • TASP1 5

External Ids for TASP1 Gene

Previous HGNC Symbols for TASP1 Gene

  • C20orf13

Previous GeneCards Identifiers for TASP1 Gene

  • GC20M013319
  • GC20M013389

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. Diseases associated with TASP1 include Balantidiasis and Microcephaly. Gene Ontology (GO) annotations related to this gene include hydrolase activity and threonine-type endopeptidase activity. An important paralog of this gene is ASRGL1.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TASP1 Gene

Genomics for TASP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TASP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J013637 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 634.7 +0.4 407 2.7 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 POLR2A ZNF692 BACH1 TASP1 piR-57460-395 ISM1
GH20J014332 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -696.1 -696106 6.5 CREB1 GATAD2A CTCF ATF7 PRDM10 REST ZNF629 NFKBIZ RCOR2 ZNF143 FLRT3 GAPDHP2 TASP1 lnc-SEL1L2-3 RF00994-573 MACROD2 SEL1L2
GH20J013626 Enhancer 0.6 Ensembl ENCODE 34.7 +12.2 12235 3.4 POLR2A MEF2D SMAD5 FEZF1 TASP1 piR-32214-387 piR-37972-399 ISM1
GH20J013659 Enhancer 0.9 Ensembl ENCODE 18.7 -20.6 -20565 1 SP1 BACH1 IKZF2 EED DPF2 RELB RUNX3 CBFB BCL11A ELF1 TASP1 piR-43105-369 HSALNG0128774 ESF1
GH20J013649 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 9.3 -10.8 -10765 2.6 NFE2 FOXA2 MAFG POLR2A SPI1 RCOR1 SMARCA4 CHD2 TASP1 HSALNG0128774 piR-43105-369 ESF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TASP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TASP1

Top Transcription factor binding sites by QIAGEN in the TASP1 gene promoter:
  • CREB
  • deltaCREB
  • FAC1
  • GR
  • GR-alpha
  • GR-beta
  • POU2F1
  • POU2F1a
  • STAT5B

Genomic Locations for TASP1 Gene

Genomic Locations for TASP1 Gene
chr20:13,104,760-13,638,936
(GRCh38/hg38)
Size:
534,177 bases
Orientation:
Minus strand
chr20:13,246,709-13,619,587
(GRCh37/hg19)
Size:
372,879 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.

    Three dimensional structures from OCA and Proteopedia for TASP1 Gene

    Alternative splice isoforms for TASP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TASP1 Gene

Post-translational modifications for TASP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TASP1 Gene

Domains & Families for TASP1 Gene

Gene Families for TASP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TASP1 Gene

InterPro:
Blocks:
  • Asparaginase 2 family
ProtoNet:

Suggested Antigen Peptide Sequences for TASP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50393, moderately similar to Threonine aspartase 1 (EC 3.4.25.-) (B7Z690_HUMAN)
  • cDNA, FLJ79210, moderately similar to Threonine aspartase 1 (EC 3.4.25.-) (B7Z963_HUMAN)
  • Threonine aspartase 1 (TASP1_HUMAN)

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

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

Phenotypes From GWAS Catalog for TASP1 Gene

Gene Ontology (GO) - Molecular Function for TASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004298 threonine-type endopeptidase activity IEA,IMP 14636557
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0042802 identical protein binding IPI 16216576
genes like me logo Genes that share ontologies with TASP1: view
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TASP1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TASP1 Gene

Localization for TASP1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TASP1 gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with TASP1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TASP1 Gene

Pathways & Interactions for TASP1 Gene

PathCards logo

SuperPathways for TASP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TASP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IMP 22829979
GO:0045893 positive regulation of transcription, DNA-templated IMP 14636557
GO:0051604 protein maturation IBA 21873635
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

mRNA/cDNA for TASP1 Gene

4 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TASP1

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

Expression for TASP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TASP1 Gene



Protein tissue co-expression partners for TASP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TASP1

SOURCE GeneReport for Unigene cluster for TASP1 Gene:

Hs.348297

Evidence on tissue expression from TISSUES for TASP1 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with TASP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia TASP1 30 31
  • 99.44 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C20ORF13 31
  • 97 (a)
OneToOne
TASP1 30
  • 91.75 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TASP1 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia TASP1 30 31
  • 94.6 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TASP1 31
  • 93 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tasp1 30 17 31
  • 91.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tasp1 30
  • 91.19 (n)
Chicken
(Gallus gallus)
Aves TASP1 30 31
  • 82.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TASP1 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tasp1 30
  • 77.88 (n)
Zebrafish
(Danio rerio)
Actinopterygii tasp1 30 31
  • 74.1 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Taspase1 30 31
  • 47.35 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002531 30
  • 46.91 (n)
Worm
(Caenorhabditis elegans)
Secernentea K01G5.9 30 31
  • 44.5 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G00590 30
  • 46.95 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0682500 30
  • 45.83 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU01757 30
  • 46.49 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC823.09c 30
  • 45.19 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for TASP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TASP1: view image

Paralogs for TASP1 Gene

Paralogs for TASP1 Gene

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

  • TASP1_HUMAN
  • B7Z690_HUMAN
  • B7Z963_HUMAN
  • H7BZ38_HUMAN
  • Q5JWM4_HUMAN
genes like me logo Genes that share paralogs with TASP1: view

Variants for TASP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TASP1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1200336864 Pathogenic: Global developmental delay 13,625,199(-) G/A NONSENSE,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
rs904200599 Pathogenic: Global developmental delay; Abnormal facial shape; Happy demeanor 13,534,116(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for TASP1 Gene

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

Variant ID Type Subtype PubMed ID
dgv7462n54 CNV loss 21841781
esv1922220 CNV deletion 18987734
esv2674371 CNV deletion 23128226
esv29075 CNV gain 19812545
esv3645284 CNV loss 21293372
esv3645285 CNV loss 21293372
esv3645287 CNV gain 21293372
esv3645288 CNV loss 21293372
esv3645289 CNV gain 21293372
esv3645290 CNV loss 21293372
nsv1061303 CNV gain 25217958
nsv178651 CNV deletion 16902084
nsv520595 CNV loss 19592680
nsv962557 CNV duplication 23825009
nsv962558 CNV duplication 23825009

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)

Additional Variant Information for TASP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TASP1

SNP Genotyping and Copy Number Assay Products

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

Disorders for TASP1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TASP1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
balantidiasis
  • b coli infection
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search TASP1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with TASP1: view

No data available for 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 JJ … Korsmeyer SJ (Cell 2003) 2 3 4
  2. Taspase 1: A protease with many biological surprises. (PMID: 27308523) Niizuma H … Hsieh JJ (Molecular & cellular oncology 2015) 2 3
  3. 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
  4. Crystal structure of human Taspase1, a crucial protease regulating the function of MLL. (PMID: 16216576) Khan JA … Tong L (Structure (London, England : 1993) 2005) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TASP1 Gene

Sources for TASP1 Gene