ETNPPL Gene (Ethanolamine-Phosphate Phospho-Lyase)
Gene encoding a key enzyme in phosphoethanolamine catabolism and glycine biosynthesis
Gene Information Card
| Symbol | ETNPPL |
|---|---|
| Full Name | Ethanolamine-Phosphate Phospho-Lyase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 648791 ncbi.nlm.nih.gov/gene/648791 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q8TBG4 |
| OMIM ID | 616530 |
| HGNC ID | 26706 |
| Aliases | AGXT2L1, MGC10986 |
Description
ETNPPL encodes ethanolamine-phosphate phospho-lyase, a pyridoxal phosphate-dependent enzyme that catalyzes the irreversible cleavage of phosphoethanolamine to acetaldehyde, phosphate, and ammonia. This reaction is a key step in the catabolism of ethanolamine and contributes to glycine biosynthesis via the reverse reaction. The enzyme is primarily expressed in liver and kidney and plays a role in phospholipid metabolism and one-carbon metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glycine encephalopathy (nonketotic hyperglycinemia) | Deficiency in ETNPPL may impair glycine degradation, leading to elevated glycine levels; however, direct causal evidence is limited. | ClinVar; OMIM |
| Ethanolamine metabolism disorder | Loss-of-function variants may disrupt phosphoethanolamine catabolism, potentially causing accumulation of toxic intermediates. | UniProt; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Small intestine | 4.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 3.5 | Embryonic kidney cells |
| HeLa | 0.8 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Likely loss of function; associated with glycine encephalopathy in ClinVar |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Uncertain significance; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg339Trp) reduce enzyme activity, impairing phosphoethanolamine cleavage and glycine homeostasis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • lyase activity (GO:0016829) |
| • cellular amino acid biosynthetic process (GO:0008652) | • L-serine catabolic process (GO:0006565) |
| • cytoplasm (GO:0005737) |
Pathways
• Glycine
• serine and threonine metabolism (KEGG: hsa00260)
• Ethanolamine metabolism (Reactome: R-HSA-6798695)
Protein Summary
The ETNPPL protein (UniProt Q8TBG4) is a 476-amino acid homodimeric enzyme localized to the cytoplasm. It belongs to the class-V pyridoxal phosphate-dependent aminotransferase family. The enzyme catalyzes the conversion of phosphoethanolamine to acetaldehyde, phosphate, and ammonia, and can also synthesize glycine from L-serine and acetaldehyde. Its expression is highest in liver and kidney, consistent with roles in amino acid and phospholipid metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETNPPL Knockout HEK293 Cell Line | EDJ-KQ13337 | Human | 64850 | Details Get a Quote |
| ETNPPL Knockout HeLa Cell Line | EDJ-KQ42812 | Human | 64850 | Details Get a Quote |
| ETNPPL Knockout A-549 Cell Line | EDJ-KQ65600 | Human | 64850 | Details Get a Quote |
| ETNPPL Knockout HCT 116 Cell Line | EDJ-KQ74028 | Human | 64850 | Details Get a Quote |
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