TASP1
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]
Full Name
taspase, threonine aspartase, 1
Function
Protease responsible for KMT2A/MLL1 processing and activation (PubMed:14636557).
It also activates KMT2D/MLL2 (By similarity).
Through substrate activation, it controls the expression of HOXA genes, and the expression of key cell cycle regulators including CCNA1, CCNB1, CCNE1 and CDKN2A (By similarity) (PubMed:14636557).
Biological Process
Biological Process positive regulation of DNA-templated transcriptionIMP:UniProtKB1 Publication
Biological Process protein maturationIBA:GO_Central1 Publication
Biological Process proteolysisIMP:CACAO1 Publication
Cellular Location
Cytoplasm
Involvement in disease
Suleiman-El-Hattab syndrome (SULEHS):
An autosomal recessive syndrome characterized by global developmental delay with poor expressive language, poor fine motor skills and hypotonia, microcephaly, feeding difficulties with failure to thrive, recurrent respiratory infections, cardiovascular malformations, cryptorchidism, happy demeanor, and facial dysmorphism. Distinctive facial features are excessive forehead hair, arched and thick eyebrows with synophrys, epicanthus, hypertelorism, thick eyelids with periorbital fullness, broad nasal bridge, long and smooth philtrum, thin upper lip, and low set prominent ears.