Entity Details

Primary name TASP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H6P5
EntryNameTASP1_HUMAN
FullNameThreonine aspartase 1
TaxID9606
Evidenceevidence at protein level
Length420
SequenceStatuscomplete
DateCreated2003-02-28
DateModified2021-06-02

Ontological Relatives

GenesTASP1

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

Subcellular Location

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Domains

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DomainNameCategoryType
IPR000246 Peptidase T2, asparaginase 2FamilyFamily
IPR029055 Nucleophile aminohydrolases, N-terminalFamilyHomologous superfamily
IPR037464 Threonine aspartase 1FamilyFamily

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.