TASP1 taspase 1 [Homo sapiens (human)] - Gene

Summary

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

Location:: 20p12.1

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (13104772..13638932, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (13432813..13682349, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (13370041..13619579, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Structural insights into the function of the catalytically active human Taspase1.
Title: Structural insights into the function of the catalytically active human Taspase1.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D20S172 (e-PCR)
- UniSTS:2062

D20S915 (e-PCR), detects polymorphism
- UniSTS:17982

D20S774 (e-PCR)
- UniSTS:44130

Z94458 (e-PCR)
- UniSTS:51615

D20S774 (e-PCR)
- UniSTS:64199

Homology

Homologs of the TASP1 gene: The TASP1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 473 organisms have orthologs with human gene TASP1
Orthologs

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 DNA-templated transcription	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

General protein information

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Preferred Names: threonine aspartase 1

NP_001310531.1

EC 3.4.25.-

NP_001310532.1

EC 3.4.25.-

NP_001310533.1

EC 3.4.25.-

NP_060184.2

EC 3.4.25.-

XP_016883418.1

EC 3.4.25.-

XP_016883420.1

EC 3.4.25.-

XP_047296223.1

EC 3.4.25.-

XP_047296224.1

EC 3.4.25.-

XP_047296225.1

EC 3.4.25.-

XP_047296226.1

EC 3.4.25.-

XP_047296227.1

EC 3.4.25.-

XP_047296228.1

EC 3.4.25.-

XP_047296229.1

EC 3.4.25.-

XP_047296230.1

EC 3.4.25.-

XP_047296231.1

EC 3.4.25.-

XP_047296232.1

EC 3.4.25.-

XP_047296233.1

EC 3.4.25.-

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)

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
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
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
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, Q9NXJ2

Related

ENSP00000338624.4, ENST00000337743.9

Conserved Domains (1) summary

cd04514
Location:42 → 416

Taspase1_like; Taspase 1 (threonine aspartase 1) and similar proteins