Entrez Gene ID | 55617 |
---|---|
Official Gene Symbol | TASP1 (GeneCards) |
Full name | taspase 1 |
Location | 20p12.1 |
Other ids | Vega : OTTHUMG00000031904 MIM : 608270 HGNC : HGNC:15859 Ensembl : ENSG00000089123 |
Other names | C20orf13, dJ585I14.2 |
Summary | 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, Jul 2008] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
21395 | 55617 | TASP1 | 20 | 13427909 | 13427909 | Asymptomatic | HiSeq X Ten |
21545 | 55617 | TASP1 | 20 | 13378364 | 13378364 | Xeroderma Pigmentosum | HiSeq X Ten |
24071 | 55617 | TASP1 | 20 | 13652477 | 13652477 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |