AARSD1
Alanyl-tRNA Synthetase Domain Containing 1
Gene Information Card
| Symbol | AARSD1 |
|---|---|
| Full Name | Alanyl-tRNA Synthetase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 80755 ncbi.nlm.nih.gov/gene/80755 |
| Ensembl ID | ENSG00000187772 |
| UniProt ID | Q9BTE6 |
| OMIM ID | 617541 |
| HGNC ID | 28337 |
| Aliases | ALADIN, AARS2, AARSD1, FLJ20291 |
Description
AARSD1 (Alanyl-tRNA Synthetase Domain Containing 1) is a protein-coding gene located on chromosome 17q21.31. It encodes a protein that contains a domain homologous to alanyl-tRNA synthetase, which is involved in aminoacylation of tRNA with alanine. The gene is expressed in various tissues and may play a role in protein synthesis and cellular metabolism. Mutations in AARSD1 have been associated with certain diseases, including cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect protein synthesis and cell proliferation | COSMIC database reports somatic mutations in multiple cancer types |
| Metabolic disorders | Potential role in amino acid metabolism and tRNA charging | Limited evidence from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.3 | Low expression |
| MCF7 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.567G>A (p.Gly189Arg) | Missense | 0.005% (gnomAD) | Potential loss of function |
| c.890_891insA | Frameshift | 0.001% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • tRNA binding |
| • aminoacyl-tRNA ligase activity | • cytoplasm |
| • protein biosynthesis |
Pathways
• Aminoacyl-tRNA biosynthesis
Protein Summary
The AARSD1 protein contains an alanyl-tRNA synthetase domain and is predicted to localize to the cytoplasm. It may catalyze the attachment of alanine to its cognate tRNA, playing a role in protein translation. The protein is expressed in multiple tissues, with highest levels in testis. Its exact physiological function and disease relevance are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AARSD1 Knockout HEK293 Cell Line | EDJ-KQ51748 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout HEK293 Cell Line | EDJ-KQ52517 | Human | 100885850 | Details Get a Quote |
| AARSD1 Knockout HeLa Cell Line | EDJ-KQ57342 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout HeLa Cell Line | EDJ-KQ60985 | Human | 100885850 | Details Get a Quote |
| AARSD1 Knockout A-549 Cell Line | EDJ-KQ65848 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout A-549 Cell Line | EDJ-KQ69459 | Human | 100885850 | Details Get a Quote |
| AARSD1 Knockout HCT 116 Cell Line | EDJ-KQ74272 | Human | 80755 | Details Get a Quote |
| PTGES3L-AARSD1 Knockout HCT 116 Cell Line | EDJ-KQ77810 | Human | 100885850 | Details Get a Quote |
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