TASP1
taspase 1
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]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs75373697 | 20:13,179,270 | G/A | intergenic variant | — |
| rs8117046 | 20:13,192,510 | T/C | intergenic variant | — |
| rs1407335 | 20:13,222,858 | A/C | downstream gene variant | — |
| rs6109773 | 20:13,226,547 | C/G | upstream gene variant | — |
| rs1223271 | 20:13,296,912 | G/A | intron variant | — |
| rs537298290 | 20:13,330,198 | G/A | — | — |
| rs12479520 | 20:13,370,707 | C/T | upstream gene variant | — |
| rs755317412 | 20:13,371,072 | C/T | — | uncertain significance |
| rs2041230291 | 20:13,371,098 | G/C | — | uncertain significance |
| rs1568772197 | 20:13,398,142 | C/T | — | uncertain significance |
| rs183345191 | 20:13,408,009 | G/C | — | — |
| rs1406192422 | 20:13,415,724 | G/T | — | uncertain significance |
| rs1409260958 | 20:13,415,727 | C/T | — | uncertain significance |
| rs2042956671 | 20:13,415,760 | C/T | — | uncertain significance |
| rs141344120 | 20:13,463,882 | T/C | — | uncertain significance |
| rs774788668 | 20:13,463,956 | T/C | — | uncertain significance |
| rs2515050985 | 20:13,463,994 | C/T | — | uncertain significance |
| rs77527408 | 20:13,514,662 | T/C | — | benign |
| rs145022707 | 20:13,514,699 | C/T | — | benign |
| rs752040376 | 20:13,514,738 | G/A | — | likely benign |
| rs904200599 | 20:13,514,763 | G/A | — | likely pathogenic |
| rs946788478 | 20:13,514,773 | T/C | — | uncertain significance |
| rs2515530219 | 20:13,539,654 | C/A | — | likely pathogenic |
| rs770972601 | 20:13,539,685 | T/A | — | likely benign |
| rs764843924 | 20:13,539,689 | A/T | — | uncertain significance |
| rs6109947 | 20:13,543,564 | G/C | — | — |
| rs368102077 | 20:13,550,159 | G/A | — | uncertain significance |
| rs2515597016 | 20:13,550,214 | C/T | — | uncertain significance |
| rs35954536 | 20:13,555,710 | C/A | intron variant | — |
| rs867871906 | 20:13,561,630 | T/C | — | likely pathogenic |
| rs143872568 | 20:13,567,934 | T/C | — | likely benign |
| rs2147255774 | 20:13,567,940 | C/A | — | uncertain significance |
| rs117248024 | 20:13,567,973 | C/A | — | benign |
| rs1200336864 | 20:13,605,846 | G/A | — | pathogenic |
| rs2048847684 | 20:13,605,872 | G/A | — | uncertain significance |
| rs2070307 | 20:13,605,903 | A/T | — | benign |
| rs1042479531 | 20:13,610,583 | G/A | — | uncertain significance |
| rs188556337 | 20:13,610,619 | T/C | — | uncertain significance |
| rs148869724 | 20:13,610,664 | G/A | — | likely benign |
| rs773045537 | 20:13,610,669 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.