ASPG (Asparaginase) Gene
Gene encoding a lysosomal asparaginase involved in asparagine metabolism and potential tumor suppression
Gene Information Card
| Symbol | ASPG |
|---|---|
| Full Name | Asparaginase |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q32.33 |
| NCBI Gene ID | 374569 ncbi.nlm.nih.gov/gene/374569 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | Q86U10 |
| OMIM ID | 612908 |
| HGNC ID | 25266 |
| Aliases | ASPG1, L-asparaginase, lysosomal asparaginase |
Description
The ASPG gene encodes a lysosomal asparaginase enzyme that hydrolyzes L-asparagine to L-aspartate and ammonia. It plays a role in asparagine metabolism and has been implicated in tumor suppression, particularly in acute lymphoblastic leukemia (ALL) and other cancers. The gene is located on chromosome 14q32.33 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Lymphoblastic Leukemia (ALL) | Loss of ASPG expression may contribute to asparagine dependence of leukemic cells; enzyme replacement with bacterial asparaginase is a therapeutic strategy. | ClinVar, COSMIC |
| Pancreatic Cancer | Reduced ASPG expression correlates with poor prognosis; potential tumor suppressor role. | COSMIC, NCBI Gene |
| Colorectal Cancer | Epigenetic silencing of ASPG observed in tumor tissues. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Pancreas | 6.1 | Low |
| Brain | 2.4 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.2 | Embryonic kidney cells |
| HepG2 | 10.1 | Hepatocellular carcinoma cells |
| MCF7 | 3.0 | Breast cancer cells |
| K562 | 1.5 | Chronic myeloid leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Nonsense | <0.01% | Premature truncation, loss of function |
| c.200_201del | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ASPG lead to truncated or absent protein, reducing asparaginase activity and potentially contributing to asparagine dependence in cancer cells.
Gain of Function (GOF)
No gain-of-function mutations reported in ASPG.
Dominant Negative (DN)
No dominant-negative mutations reported in ASPG.
View complete mutation data：
Gene Ontology (GO)
| • asparaginase activity | • asparagine metabolic process |
| • lysosome | • hydrolase activity |
Pathways
• Asparagine metabolism
• Lysosomal degradation pathway
Protein Summary
The ASPG protein is a lysosomal asparaginase (EC 3.5.1.1) that catalyzes the hydrolysis of L-asparagine to L-aspartate and ammonia. It is involved in cellular asparagine homeostasis and has been implicated as a tumor suppressor in several cancers. The protein is localized to the lysosome and is expressed in multiple tissues, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPG Knockout HEK293 Cell Line | EDJ-KQ11739 | Human | 374569 | Details Get a Quote |
| ASPG Knockout HeLa Cell Line | EDJ-KQ59897 | Human | 374569 | Details Get a Quote |
| ASPG Knockout A-549 Cell Line | EDJ-KQ68359 | Human | 374569 | Details Get a Quote |
| ASPG Knockout HCT 116 Cell Line | EDJ-KQ76735 | Human | 374569 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
