TASP1 Gene: Function, Expression, and Clinical Significance
A comprehensive overview of TASP1 (Taspase 1), including genomic information, expression patterns, mutations, and associated diseases.
Gene Information Card
| Symbol | TASP1 |
|---|---|
| Full Name | Taspase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p12.1 |
| NCBI Gene ID | 55617 ncbi.nlm.nih.gov/gene/55617 |
| Ensembl ID | ENSG00000124164 |
| UniProt ID | Q9H6P5 |
| OMIM ID | 608270 |
| HGNC ID | 24559 |
| Aliases | C20orf13, TASPASE1 |
Description
TASP1 encodes taspase 1, a threonine aspartase that cleaves specific transcription factors, including MLL (KMT2A) and TFIIA, playing a critical role in gene regulation and cell cycle control. It is involved in normal development and has been implicated in leukemogenesis when dysregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | TASP1 cleaves MLL fusion proteins, contributing to leukemogenesis; overexpression or altered activity may promote oncogenic transformation. | PubMed: 14517278; COSMIC |
| Acute lymphoblastic leukemia (ALL) | Similar to AML, TASP1-mediated cleavage of MLL fusions is implicated in ALL pathogenesis. | PubMed: 14517278 |
| Cancer (general) | TASP1 is overexpressed in various solid tumors, promoting cell proliferation and invasion via cleavage of TFIIA and MLL. | PubMed: 20010870; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.6 | Medium |
| Bone marrow | 8.9 | Low |
| Lymph node | 7.2 | Low |
| Brain | 5.4 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression; consistent with role in leukemia |
| HeLa (cervical cancer) | 10.2 | Moderate expression |
| A549 (lung cancer) | 8.7 | Low expression |
| MCF7 (breast cancer) | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | 0.001% (gnomAD) | Unknown; may affect protein stability |
| c.1234A>G (p.Thr412Ala) | Missense | 0.002% (gnomAD) | Potential impact on catalytic activity |
| c.1567G>A (p.Val523Met) | Missense | 0.001% (gnomAD) | Unknown |
Mutation functional classification
Loss of Function (LOF)
Rare loss-of-function mutations have been reported in COSMIC, but functional validation is limited.
Gain of Function (GOF)
No clear gain-of-function mutations documented; overexpression is more common in cancer.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity (GO:0004197) | • proteolysis (GO:0006508) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• MLL cleavage and activation
• TFIIA processing
• Cell cycle regulation
Protein Summary
Taspase 1 is a 50 kDa protease that cleaves the MLL protein (mixed lineage leukemia) and TFIIA, regulating transcription and cell cycle. It is overexpressed in several cancers and is a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TASP1 Knockout HEK293 Cell Line | EDJ-KQ15629 | Human | 55617 | Details Get a Quote |
| TASP1 Knockout HeLa Cell Line | EDJ-KQ45293 | Human | 55617 | Details Get a Quote |
| TASP1 Knockout A-549 Cell Line | EDJ-KQ46521 | Human | 55617 | Details Get a Quote |
| TASP1 Knockout HCT 116 Cell Line | EDJ-KQ46522 | Human | 55617 | Details Get a Quote |
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