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    TASP1 taspase 1 [ Homo sapiens (human) ]

    Gene ID: 55617, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TASP1provided by HGNC
    Official Full Name
    taspase 1provided by HGNC
    Primary source
    HGNC:HGNC:15859
    See related
    Ensembl:ENSG00000089123 MIM:608270; AllianceGenome:HGNC:15859
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SULEHS; C20orf13; dJ585I14.2
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 2.9), testis (RPKM 2.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TASP1 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13104772..13638932, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (13148109..13682349, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13370041..13619579, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1722 Neighboring gene Sharpr-MPRA regulatory region 3567 Neighboring gene long intergenic non-protein coding RNA 1723 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:12980521-12980692 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:13010129-13011328 Neighboring gene serine palmitoyltransferase long chain base subunit 3 Neighboring gene CENATAC pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17549 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17550 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12678 Neighboring gene Sharpr-MPRA regulatory region 1935 Neighboring gene Sharpr-MPRA regulatory region 7489 Neighboring gene ISM1 antisense RNA 1 Neighboring gene isthmin 1 Neighboring gene uncharacterized LOC124904872 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:13337123-13337628 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:13338225-13339146 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:13342069-13342904 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:13342905-13343739 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 6 Neighboring gene NANOG hESC enhancer GRCh37_chr20:13516637-13517168 Neighboring gene Sharpr-MPRA regulatory region 15076 Neighboring gene Sharpr-MPRA regulatory region 9064 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:13618936-13619436 Neighboring gene Sharpr-MPRA regulatory region 128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:13765895-13766584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12680 Neighboring gene ESF1 nucleolar pre-rRNA processing protein homolog Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. Suleiman J, et al. Clin Genet, 2018 Jul. PMID 29633245
    2. Taspase1 functions as a non-oncogene addiction protease that coordinates cancer cell proliferation and apoptosis. Chen DY, et al. Cancer Res, 2010 Jul 1. PMID 20516119, Free PMC Article
    3. Cell-based analysis of structure-function activity of threonine aspartase 1. Bier C, et al. J Biol Chem, 2011 Jan 28. PMID 21084304, Free PMC Article
    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. Bier C, et al. PLoS One, 2012. PMID 22570686, Free PMC Article
    5. Unraveling the Activation Mechanism of Taspase1 which Controls the Oncogenic AF4-MLL Fusion Protein. Sabiani S, et al. EBioMedicine, 2015 May. PMID 26137584, Free PMC Article

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Taspase1 Facilitates Topoisomerase IIbeta-Mediated DNA Double-Strand Breaks Driving Estrogen-Induced Transcription.
      Title: Taspase1 Facilitates Topoisomerase IIβ-Mediated DNA Double-Strand Breaks Driving Estrogen-Induced Transcription.
    2. Silencing of circTASP1 inhibits proliferation and induces apoptosis of acute myeloid leukaemia cells through modulating miR-515-5p/HMGA2 axis.
      Title: Silencing of circTASP1 inhibits proliferation and induces apoptosis of acute myeloid leukaemia cells through modulating miR-515-5p/HMGA2 axis.
    3. Structural insights into the function of the catalytically active human Taspase1.
      Title: Structural insights into the function of the catalytically active human Taspase1.
    4. TASP1 Promotes Proliferation and Migration in Gastric Cancer via EMT and AKT/P-AKT Pathway.
      Title: TASP1 Promotes Proliferation and Migration in Gastric Cancer via EMT and AKT/P-AKT Pathway.
    5. TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
      Title: TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
    6. TASP1 is a novel disease-related gene that is associated with a disease phenotype overlapping with Wiedemann-Steiner syndrome as both are caused by defects in the same pathway.
      Title: TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.
    7. Taspase 1 processing promotes TFIIA's nuclear accumulation by evolutionary conserved nuclear export signal (NES, amino acids 21VINDVRDIFL30) masking, and modulates its transcriptional activity.
      Title: TFIIA transcriptional activity is controlled by a 'cleave-and-run' Exportin-1/Taspase 1-switch.
    8. Proteolytic processing of TFIIA by Taspase1 was found to mask evolutionary conserved nuclear export signal, thereby promoting nuclear localization and transcriptional activation of TFIIA target genes, such as CDKN2A.
      Title: Disease-relevant signalling-pathways in head and neck cancer: Taspase1's proteolytic activity fine-tunes TFIIA function.
    9. Studies indicate that threonine Aspartase1 (Taspase1) is overexpressed in numerous liquid and solid malignancies and was characterized as a 'non-oncogene addiction' protease.
      Title: Taspase1: a 'misunderstood' protease with translational cancer relevance.
    10. simultaneous expression of the leukemogenic AF4-MLL and dnTASP1 causes the disappearance of the leukemogenic oncoprotein, because the uncleaved AF4-MLL protein (328 kDa) is subject to proteasomal degradation.
      Title: Unraveling the Activation Mechanism of Taspase1 which Controls the Oncogenic AF4-MLL Fusion Protein.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Suleiman-El-Hattab syndrome
    MedGen: C5436458 OMIM: 618950 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20212, MGC39159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables threonine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables threonine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables threonine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in epigenetic regulation of gene expression TAS
    Traceable Author Statement
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein maturation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    threonine aspartase 1
    NP_001310531.1
    NP_001310532.1
    NP_001310533.1
    NP_060184.2
    XP_016883418.1
    XP_016883420.1
    XP_047296223.1
    XP_047296224.1
    XP_047296225.1
    XP_047296226.1
    XP_047296227.1
    XP_047296228.1
    XP_047296229.1
    XP_047296230.1
    XP_047296231.1
    XP_047296232.1
    XP_047296233.1
    XP_054179622.1
    XP_054179623.1
    XP_054179624.1
    XP_054179625.1
    XP_054179626.1
    XP_054179627.1
    XP_054179628.1
    XP_054179629.1
    XP_054179630.1
    XP_054179631.1
    XP_054179632.1
    XP_054179633.1
    XP_054179634.1
    XP_054179635.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001323602.2 → NP_001310531.1  threonine aspartase 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, AL601028, CA418131
      Conserved Domains (1) summary
      cd04514
      Location:42 → 285
      Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

    2. NM_001323603.2 → NP_001310532.1  threonine aspartase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, CA418131
      Conserved Domains (1) summary
      cd04514
      Location:2 → 314
      Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

    3. NM_001323604.2 → NP_001310533.1  threonine aspartase 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, CA418131
      Conserved Domains (1) summary
      cd04514
      Location:2 → 314
      Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

    4. NM_017714.3 → NP_060184.2  threonine aspartase 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_060184.2

      Status: REVIEWED

      Source sequence(s)
      AL601028, BC025266, CA418131
      Consensus CDS
      CCDS13116.1
      UniProtKB/Swiss-Prot
      B7Z690, B7Z963, Q5TDU9, Q9BQN0, Q9H6P5, Q9NQ08, Q9NTS6, Q9NXJ2
      Related
      ENSP00000338624.4, ENST00000337743.9
      Conserved Domains (1) summary
      cd04514
      Location:42 → 416
      Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

    RNA

    1. NR_136628.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, CA418131

    2. NR_136629.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, AL601028, CA418131

    3. NR_136630.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, AL601028, CA418131

    4. NR_136631.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121754, AL121782, AL601028, CA418131

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      13104772..13638932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440269.1 → XP_047296225.1  threonine aspartase 1 isoform X2

    2. XM_047440275.1 → XP_047296231.1  threonine aspartase 1 isoform X7

    3. XM_047440268.1 → XP_047296224.1  threonine aspartase 1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z690, B7Z963, Q5TDU9, Q9BQN0, Q9H6P5, Q9NQ08, Q9NTS6, Q9NXJ2

    4. XM_047440267.1 → XP_047296223.1  threonine aspartase 1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z690, B7Z963, Q5TDU9, Q9BQN0, Q9H6P5, Q9NQ08, Q9NTS6, Q9NXJ2

    5. XM_047440273.1 → XP_047296229.1  threonine aspartase 1 isoform X6

    6. XM_047440274.1 → XP_047296230.1  threonine aspartase 1 isoform X6

    7. XM_047440276.1 → XP_047296232.1  threonine aspartase 1 isoform X9

    8. XM_047440271.1 → XP_047296227.1  threonine aspartase 1 isoform X4

      Related
      ENSP00000400580.1, ENST00000455532.5

    9. XM_047440270.1 → XP_047296226.1  threonine aspartase 1 isoform X3

    10. XM_047440272.1 → XP_047296228.1  threonine aspartase 1 isoform X5

    11. XM_017027929.3 → XP_016883418.1  threonine aspartase 1 isoform X8

    12. XM_017027931.3 → XP_016883420.1  threonine aspartase 1 isoform X10

    13. XM_047440277.1 → XP_047296233.1  threonine aspartase 1 isoform X10

    RNA

    1. XR_001754319.3 RNA Sequence

    2. XR_007067463.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      13148109..13682349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323648.1 → XP_054179623.1  threonine aspartase 1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z690, B7Z963, Q5TDU9, Q9BQN0, Q9H6P5, Q9NQ08, Q9NTS6, Q9NXJ2

    2. XM_054323647.1 → XP_054179622.1  threonine aspartase 1 isoform X1

      UniProtKB/Swiss-Prot
      B7Z690, B7Z963, Q5TDU9, Q9BQN0, Q9H6P5, Q9NQ08, Q9NTS6, Q9NXJ2

    3. XM_054323656.1 → XP_054179631.1  threonine aspartase 1 isoform X7

    4. XM_054323654.1 → XP_054179629.1  threonine aspartase 1 isoform X6

    5. XM_054323655.1 → XP_054179630.1  threonine aspartase 1 isoform X6

    6. XM_054323658.1 → XP_054179633.1  threonine aspartase 1 isoform X9

    7. XM_054323652.1 → XP_054179627.1  threonine aspartase 1 isoform X4

    8. XM_054323651.1 → XP_054179626.1  threonine aspartase 1 isoform X3

    9. XM_054323653.1 → XP_054179628.1  threonine aspartase 1 isoform X5

    10. XM_054323649.1 → XP_054179624.1  threonine aspartase 1 isoform X11

    11. XM_054323650.1 → XP_054179625.1  threonine aspartase 1 isoform X12

    12. XM_054323657.1 → XP_054179632.1  threonine aspartase 1 isoform X8

    13. XM_054323659.1 → XP_054179634.1  threonine aspartase 1 isoform X10

    14. XM_054323660.1 → XP_054179635.1  threonine aspartase 1 isoform X10

    RNA

    1. XR_008485269.1 RNA Sequence

    2. XR_008485268.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6P5.1 GenPept UniProtKB/Swiss-Prot:Q9H6P5

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