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TASP1 taspase 1 [ Homo sapiens (human) ]

Gene ID: 55617, updated on 19-Jun-2021

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
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
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Genomic context

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See TASP1 in Genome Data Viewer
Location:
20p12.1
Exon count:
24
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (13104760..13638932, complement)
105.20201022 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 long intergenic non-protein coding RNA 1723 Neighboring gene centrosomal AT-AC splicing factor pseudogene Neighboring gene serine palmitoyltransferase long chain base subunit 3 Neighboring gene uncharacterized LOC105372539 Neighboring gene Sharpr-MPRA regulatory region 1935 Neighboring gene ISM1 antisense RNA 1 Neighboring gene isthmin 1 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene 2 Neighboring gene mitochondrial ribosomal protein S36 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 9064 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
  • 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. Taspase 1: A protease with many biological surprises. Niizuma H, et al. Mol Cell Oncol, 2015 Oct-Dec. PMID 27308523, Free PMC Article
  3. Taspase1: a 'misunderstood' protease with translational cancer relevance. Wünsch D, et al. Oncogene, 2016 Jun 30. PMID 26657154
  4. 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
  5. 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

See all (31) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Our results provide first evidence that Taspase1 processing affects TFIIA regulation of TFIID and suggest that Taspase1 processing of TFIIA is required to establish INR-selective core promoter activity in the presence of NC2.
    Title: Taspase1 processing alters TFIIA cofactor properties in the regulation of TFIID.
  8. inefficient heterodimerization appears to be the mechanism by which inactive Taspase1 variants fail to inhibit wild type Taspase1's activity in trans.
    Title: Overexpression of the catalytically impaired Taspase1 T234V or Taspase1 D233A variants does not have a dominant negative effect in T(4;11) leukemia cells.
  9. Taspase1 appears to exploit the nuclear export activity of importin-alpha/nucleophosmin to gain transient access to the cytoplasm required to also cleave its cytoplasmic substrates.
    Title: The importin-alpha/nucleophosmin switch controls taspase1 protease function.
  10. Cell-based analysis of structure-function activity of threonine aspartase 1.
    Title: Cell-based analysis of structure-function activity of threonine aspartase 1.
Submit: New GeneRIF Correction See all GeneRIFs (14)

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
 PubMed 
enables threonine-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein maturation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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
 PubMed 

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_011527594.1
XP_011527596.1
XP_016883416.1
XP_016883417.1
XP_016883418.1
XP_016883419.1
XP_016883420.1

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
    Q9H6P5
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    13104760..13638932 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027930.1 → XP_016883419.1  threonine aspartase 1 isoform X3

  2. XM_011529292.1 → XP_011527594.1  threonine aspartase 1 isoform X1

    See identical proteins and their annotated locations for XP_011527594.1

    Conserved Domains (1) summary
    cd04514
    Location:2 → 314
    Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

  3. XM_011529294.1 → XP_011527596.1  threonine aspartase 1 isoform X1

    See identical proteins and their annotated locations for XP_011527596.1

    Conserved Domains (1) summary
    cd04514
    Location:2 → 314
    Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

  4. XM_017027927.1 → XP_016883416.1  threonine aspartase 1 isoform X1

    Conserved Domains (1) summary
    cd04514
    Location:2 → 314
    Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

  5. XM_017027928.1 → XP_016883417.1  threonine aspartase 1 isoform X1

    Conserved Domains (1) summary
    cd04514
    Location:2 → 314
    Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins

  6. XM_017027929.2 → XP_016883418.1  threonine aspartase 1 isoform X2

  7. XM_017027931.2 → XP_016883420.1  threonine aspartase 1 isoform X4

RNA

  1. XR_001754319.2 RNA Sequence

  2. XR_430268.2 RNA Sequence

    Related
    ENST00000480436.5

  3. XR_001754321.2 RNA Sequence

  4. XR_001754320.2 RNA Sequence

  5. XR_001754323.1 RNA Sequence

  6. XR_001754325.1 RNA Sequence

  7. XR_001754324.1 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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