UEVLD: UEV and Lactate/Malate Dehydrogenase Domain-Containing Protein
A multifunctional enzyme implicated in cellular metabolism and potential roles in cancer and developmental disorders.
Gene Information Card
| Symbol | UEVLD |
|---|---|
| Full Name | UEV and lactate/malate dehydrogenase domain containing |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 55293 ncbi.nlm.nih.gov/gene/55293 |
| Ensembl ID | ENSG00000148719 |
| UniProt ID | Q9BQ24 |
| OMIM ID | 616723 |
| HGNC ID | 28363 |
| Aliases | UEV3, C11orf2, HSPC245, MDS032 |
Description
UEVLD encodes a protein containing an N-terminal UEV (ubiquitin-conjugating enzyme E2 variant) domain and a C-terminal lactate/malate dehydrogenase domain. The UEV domain is involved in ubiquitination and protein trafficking, while the dehydrogenase domain suggests a role in metabolic processes, particularly in the interconversion of lactate and malate. The gene is widely expressed and has been implicated in cellular stress responses and tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect metabolic reprogramming and ubiquitin-mediated signaling. | COSMIC database reports somatic mutations in multiple cancer types; limited functional validation. |
| Developmental disorders (potential) | UEVLD mutations may disrupt protein function during embryogenesis. | ClinVar lists a few missense variants of uncertain significance in patients with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.2 | Low |
| Brain | 5.1 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression in embryonic kidney cells |
| HepG2 | 11.2 | Medium expression in liver cancer cells |
| K562 | 6.5 | Low expression in leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | <0.01% | Unknown; predicted benign by in silico tools |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
| c.1345_1347del (p.Lys449del) | In-frame deletion | <0.01% | Unknown; may affect dehydrogenase domain |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in curated databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin-mediated proteolysis (via UEV domain)
• Lactate/malate metabolism (via dehydrogenase domain)
Protein Summary
The UEVLD protein is a 509-amino-acid polypeptide with a molecular weight of approximately 56 kDa. It contains an N-terminal UEV domain that may interact with ubiquitin-conjugating enzymes, and a C-terminal lactate/malate dehydrogenase domain that catalyzes the reversible conversion of lactate to pyruvate or malate to oxaloacetate. The protein is localized in the cytoplasm and potentially at membranes, suggesting roles in both metabolic and ubiquitin-related signaling pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UEVLD Knockout HEK293 Cell Line | EDJ-KQ16018 | Human | 55293 | Details Get a Quote |
| UEVLD Knockout HCT 116 Cell Line | EDJ-KQ45894 | Human | 55293 | Details Get a Quote |
| UEVLD Knockout A-549 Cell Line | EDJ-KQ47113 | Human | 55293 | Details Get a Quote |
| UEVLD Knockout HeLa Cell Line | EDJ-KQ47114 | Human | 55293 | Details Get a Quote |
