ASPDH (Aspartate Dehydrogenase)
A gene encoding an enzyme involved in aspartate metabolism and NAD biosynthesis.
Gene Information Card
| Symbol | ASPDH |
|---|---|
| Full Name | Aspartate Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 253982 ncbi.nlm.nih.gov/gene/253982 |
| Ensembl ID | ENSG00000188229 |
| UniProt ID | A6ND91 |
| OMIM ID | 617745 |
| HGNC ID | 26408 |
| Aliases | FLJ23861, MGC15619 |
Description
The ASPDH gene encodes aspartate dehydrogenase, an enzyme that catalyzes the reversible conversion of L-aspartate to oxaloacetate and ammonia, with NAD+ as a cofactor. This reaction is part of the aspartate metabolic pathway and contributes to NAD biosynthesis. The gene is located on chromosome 19q13.33 and is expressed in various tissues, with highest levels in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.8 | Medium |
| Kidney | 8.5 | Medium |
| Testis | 4.2 | Low |
| Brain | 2.1 | Low |
| Heart | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma |
| HEK293 | 9.7 | Embryonic kidney |
| K562 | 3.4 | Leukemia |
| HeLa | 2.8 | Cervical cancer |
| A549 | 1.9 | Lung cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized in ASPDH.
Gain of Function (GOF)
No gain-of-function mutations have been characterized in ASPDH.
Dominant Negative (DN)
No dominant-negative mutations have been characterized in ASPDH.
View complete mutation data：
Gene Ontology (GO)
| • aspartate dehydrogenase activity (GO:0004070) | • cellular amino acid metabolic process (GO:0006520) |
| • NAD metabolic process (GO:0019674) | • cytoplasm (GO:0005737) |
Pathways
• Aspartate metabolism
• NAD biosynthesis
Protein Summary
Aspartate dehydrogenase (ASPDH) is a 299-amino acid protein localized to the cytoplasm. It catalyzes the NAD+-dependent oxidation of L-aspartate to oxaloacetate and ammonia. The enzyme is involved in amino acid metabolism and contributes to the cellular NAD pool. Structural studies indicate a Rossmann fold for NAD binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ASPDH Knockout HEK293 Cell Line | EDJ-KQ12458 | Human | 554235 | Details Get a Quote |
| ASPDH Knockout HeLa Cell Line | EDJ-KQ60505 | Human | 554235 | Details Get a Quote |
| ASPDH Knockout A-549 Cell Line | EDJ-KQ68975 | Human | 554235 | Details Get a Quote |
| ASPDH Knockout HCT 116 Cell Line | EDJ-KQ77333 | Human | 554235 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
