ASNSD1
Asparagine Synthetase Domain Containing 1
Gene Information Card
| Symbol | ASNSD1 |
|---|---|
| Full Name | Asparagine Synthetase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q33.1 |
| NCBI Gene ID | 54529 ncbi.nlm.nih.gov/gene/54529 |
| Ensembl ID | ENSG00000115966 |
| UniProt ID | Q9NWL6 |
| OMIM ID | 611676 |
| HGNC ID | 25272 |
| Aliases | ASNSD1, FLJ12529, dJ1181N3.1 |
Description
ASNSD1 (Asparagine Synthetase Domain Containing 1) is a protein-coding gene located on chromosome 2q33.1. It encodes a protein that contains an asparagine synthetase domain, though its precise enzymatic function remains under investigation. The gene is ubiquitously expressed in human tissues and has been implicated in cellular metabolism and potential roles in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Brain | 8.1 | Low |
| Heart | 7.3 | Low |
| Lung | 6.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 12.5 | Moderate expression |
| K562 | 9.8 | Low expression |
| A549 | 8.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
| c.200G>A (p.Gly67Asp) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • asparagine synthetase activity (GO:0004066) | • ATP binding (GO:0005524) |
| • asparagine biosynthetic process (GO:0006529) |
Pathways
• Metabolic pathways (KEGG:01100)
• Alanine
• aspartate and glutamate metabolism (KEGG:00250)
Protein Summary
The ASNSD1 protein (UniProt Q9NWL6) is a 561-amino acid polypeptide that contains an asparagine synthetase domain. It is predicted to localize to the cytoplasm and may participate in amino acid biosynthesis. Structural studies suggest it binds ATP and catalyzes the conversion of aspartate to asparagine, though experimental validation is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASNSD1 Knockout HEK293 Cell Line | EDJ-KQ51370 | Human | 54529 | Details Get a Quote |
| ASNSD1 Knockout HeLa Cell Line | EDJ-KQ56430 | Human | 54529 | Details Get a Quote |
| ASNSD1 Knockout A-549 Cell Line | EDJ-KQ64925 | Human | 54529 | Details Get a Quote |
| ASNSD1 Knockout HCT 116 Cell Line | EDJ-KQ73367 | Human | 54529 | Details Get a Quote |
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