DGLUCY (D-Glutamate Cyclase)
Gene encoding a mitochondrial enzyme involved in D-glutamate metabolism
Gene Information Card
| Symbol | DGLUCY |
|---|---|
| Full Name | D-Glutamate Cyclase |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 123872 ncbi.nlm.nih.gov/gene/123872 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q8N6M3 |
| OMIM ID | 617061 |
| HGNC ID | 28333 |
| Aliases | C14orf159, FLJ22662, DGLUCY |
Description
DGLUCY encodes a mitochondrial enzyme that catalyzes the cyclization of D-glutamate to 5-oxo-D-proline. This gene is involved in D-amino acid metabolism and may play a role in mitochondrial function and cellular redox balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not yet characterized | Unknown | No disease associations currently reported in OMIM or ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Low |
| Kidney | 10.2 | Low |
| Heart | 8.7 | Low |
| Brain | 6.3 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma |
| HEK293 | 11.8 | Embryonic kidney |
| K562 | 7.2 | Leukemia |
| HeLa | 6.5 | Cervical carcinoma |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • D-glutamate cyclase activity | • mitochondrion |
| • D-amino acid metabolic process |
Pathways
• D-glutamate and D-glutamine metabolism
Protein Summary
D-glutamate cyclase is a mitochondrial enzyme that converts D-glutamate to 5-oxo-D-proline. It is involved in the metabolism of D-amino acids, which are non-proteinogenic amino acids. The enzyme may contribute to mitochondrial redox homeostasis and detoxification of D-glutamate.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DGLUCY Knockout HEK293 Cell Line | EDJ-KQ9434 | Human | 80017 | Details Get a Quote |
| DGLUCY Knockout A-549 Cell Line | EDJ-KQ36111 | Human | 80017 | Details Get a Quote |
| DGLUCY Knockout HCT 116 Cell Line | EDJ-KQ36112 | Human | 80017 | Details Get a Quote |
| DGLUCY Knockout HeLa Cell Line | EDJ-KQ36113 | Human | 80017 | Details Get a Quote |