Entity Details

Primary name TASP1
Entity type gene
Source Source Link

Details

PrimaryID55617
RefseqGene
SymbolTASP1
Nametaspase 1
Chromosome20
Location20p12.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsTASP1_HUMAN

GO terms

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GOName
GO:0004298 threonine-type endopeptidase activity
GO:0005737 cytoplasm
GO:0006508 proteolysis
GO:0042802 identical protein binding
GO:0045893 positive regulation of transcription, DNA-templated
GO:0051604 protein maturation

Diseases

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Disease IDSourceNameDescription
618950 OMIMSuleiman-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. The disease is caused by variants affecting the gene represented in this entry.