TASP1

TASP1
Identifiers
Aliases	TASP1, C20orf13, dJ585I14.2, taspase 1, SULEHS
External IDs	OMIM: 608270; MGI: 1923062; GeneCards: TASP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2A8I, 2A8J, 2A8L, 2A8M
Gene location (Human) Chr. Chromosome 20 (human) Band 20p12.1 Start 13,389,392 bp End 13,638,932 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F3 Start 139,675,400 bp End 139,908,725 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in popliteal artery tibial arteries testicle Achilles tendon secondary oocyte epithelium of nasopharynx Descending thoracic aorta tibia ascending aorta bronchial epithelial cell Top expressed in spermatid Region I of hippocampus proper pineal gland barrel cortex spermatocyte lacrimal gland dentate gyrus of hippocampal formation granule cell lens right kidney proximal tubule More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptidase activity hydrolase activity threonine-type endopeptidase activity identical protein binding Cellular component cytoplasm Biological process positive regulation of transcription, DNA-templated proteolysis protein maturation Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 55617 75812 Ensembl ENSG00000089123 ENSMUSG00000039033 UniProt Q9H6P5 Q8R1G1 RefSeq (mRNA) NM_017714 NM_001323602 NM_001323603 NM_001323604 NM_001159640 NM_001159641 NM_001289611 NM_175225 RefSeq (protein) NP_001310531 NP_001310532 NP_001310533 NP_060184 NP_001153112 NP_001153113 NP_001276540 NP_780434 Location (UCSC) Chr 20: 13.39 – 13.64 Mb Chr 2: 139.68 – 139.91 Mb PubMed search
Wikidata
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Threonine aspartase 1 is an enzyme that in humans is encoded by the TASP1 gene.

Function

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. Cleavage of TFIIA has been found to drive spermatogenesis.

Alternatively spliced transcript variants have been described, but their biological validity has not been determined.

Clinical significance

Taspase1 is overexpressed in primary human cancers and functions as a non-oncogene addiction protease that coordinates cancer cell proliferation and apoptosis. Therefore, Taspase1 may serve as a novel anti-cancer therapeutic target. A mutation of the TASP1 gene causes Suleiman-El-Hattab syndrome, a genetic disorder recently described in 2018.

Further reading

• Zhou H, Spicuglia S, Hsieh JJ, Mitsiou DJ, Høiby T, Veenstra GJ, et al. (April 2006). "Uncleaved TFIIA is a substrate for taspase 1 and active in transcription". Molecular and Cellular Biology. 26 (7): 2728–2735. doi:10.1128/MCB.26.7.2728-2735.2006. PMC 1430320. PMID 16537915.
• Khan JA, Dunn BM, Tong L (2006). "Crystal structure of human Taspase1, a crucial protease regulating the function of MLL". Structure. 13 (10). London: 1443–1452. doi:10.1016/j.str.2005.07.006. PMID 16216576.
• Hsieh JJ, Ernst P, Erdjument-Bromage H, Tempst P, Korsmeyer SJ (January 2003). "Proteolytic cleavage of MLL generates a complex of N- and C-terminal fragments that confers protein stability and subnuclear localization". Molecular and Cellular Biology. 23 (1): 186–194. doi:10.1128/MCB.23.1.186-194.2003. PMC 140678. PMID 12482972.