TASP1
entrez
55617
canonical
uniprot
Q9H6P5
canonical
ensembl
ENSG00000089123
resolver
ensp
ENSP00000338624
resolver
ensp
ENSP00000400580
resolver
ensp
ENSP00000531064
resolver
ensp
ENSP00000531066
resolver
ensp
ENSP00000531067
resolver
ensp
ENSP00000668574
resolver
ensp
ENSP00000725028
resolver
genesymbol
TASP1
resolver
genesymbol_syn
C20orf13
resolver
hgnc
HGNC:15859
resolver
uniprot
B7Z690
resolver
uniprot
B7Z963
resolver
uniprot
Q5TDU9
resolver
uniprot
Q9BQN0
resolver
uniprot
Q9NQ08
resolver
uniprot
Q9NTS6
resolver
uniprot
Q9NXJ2
resolver
uniprot_entry
TASP1_HUMAN
resolver
uniprot_sec
B7Z690
resolver
uniprot_sec
B7Z963
resolver
uniprot_sec
Q5TDU9
resolver
uniprot_sec
Q9BQN0
resolver
uniprot_sec
Q9NQ08
resolver
uniprot_sec
Q9NTS6
resolver
uniprot_sec
Q9NXJ2
resolver
amino_acid_sequence
MTMEKGMSSGEGLPSRSSQVSAGKITAKELETKQSYKEKRGGFVLVHAGAGYHSESKAKEYKHVCKRACQKAIEKLQAGALATDAVTAALVELEDSPFTNAGMGSNLNLLGEIECDASIMDGKSLNFGAVGALSGIKNPVSVANRLLCEGQKGKLSAGRIPPCFLVGEGAYRWAVDHGIPSCPPNIMTTRFSLAAFKRNKRKLELAERVDTDFMQLKKRRQSSEKENDSGTLDTVGAVVVDHEGNVAAAVSSGGLALKHPGRVGQAALYGCGCWAENTGAHNPYSTAVSTSGCGEHLVRTILARECSHALQAEDAHQALLETMQNKFISSPFLASEDGVLGGVIVLRSCRCSAEPDSSQNKQTLLVEFLWSHTTESMCVGYMSAQDGKAKTHISRLPPGAVAGQSVAIEGGVCRLESPVN
uniprot
proteins
disease_involvement
DISEASE: Suleiman-El-Hattab syndrome (SULEHS) [MIM:618950]: 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. {ECO:0000269|PubMed:31209944}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.25.-
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q8R1G1, ECO:0000269|PubMed:14636557}.
uniprot
proteins
mass_dalton
44455
uniprot
proteins
mutagenesis
MUTAGEN 233; /note="D->A: 0.1% enzymatic activity; no intramolecular processing."; /evidence="ECO:0000269|PubMed:14636557, ECO:0000269|PubMed:16216576"; MUTAGEN 234; /note="T->A: Complete loss of enzymatic activity; no intramolecular processing."; /evidence="ECO:0000269|PubMed:14636557
uniprot
proteins
protein_family
Ntn-hydrolase family
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14636557
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16216576
uniprot
proteins
pubmed
31209944
uniprot
proteins
sequence_length
420
uniprot
proteins