ASRGL1
Asparaginase Like 1
Gene Information Card
| Symbol | ASRGL1 |
|---|---|
| Full Name | Asparaginase Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q12.3 |
| NCBI Gene ID | 80150 ncbi.nlm.nih.gov/gene/80150 |
| Ensembl ID | ENSG00000162174 |
| UniProt ID | Q7L266 |
| OMIM ID | 609212 |
| HGNC ID | 24148 |
| Aliases | ALP, hLAA, CRASH, L-asparaginase |
Description
ASRGL1 encodes a protein with L-asparaginase activity, catalyzing the hydrolysis of L-asparagine to L-aspartate and ammonia. It is involved in asparagine metabolism and may play a role in cellular stress responses. The gene is expressed in various tissues, with highest levels in testis and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Asparaginase deficiency | Loss of enzyme activity leads to impaired asparagine metabolism | ClinVar |
| Cancer (potential therapeutic target) | Overexpression in certain tumors may confer growth advantage | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Brain | 15.2 | Medium |
| Kidney | 10.8 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 8.7 | Low expression |
| K562 | 5.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Reduced enzyme activity |
| c.200C>T | nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish enzymatic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • asparaginase activity | • L-asparagine metabolic process |
| • cytoplasm |
Pathways
• Asparagine metabolism
Protein Summary
ASRGL1 is a 308-amino acid protein that functions as a cytosolic L-asparaginase. It is structurally related to bacterial L-asparaginases and is involved in the regulation of intracellular asparagine levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASRGL1 Knockout HEK293 Cell Line | EDJ-KQ9463 | Human | 80150 | Details Get a Quote |
| ASRGL1 Knockout A-549 Cell Line | EDJ-KQ36162 | Human | 80150 | Details Get a Quote |
| ASRGL1 Knockout HCT 116 Cell Line | EDJ-KQ36163 | Human | 80150 | Details Get a Quote |
| ASRGL1 Knockout HeLa Cell Line | EDJ-KQ36164 | Human | 80150 | Details Get a Quote |
