ETNPPL (ethanolamine-phosphate phospho-lyase)

Gene

• Entrez ID: 64850
• Gene name: Ethanolamine-phosphate phospho-lyase
• Gene symbol: ETNPPL
• Synonyms (NCBI Gene): AGXT2L1
• Chromosome: 4
• Chromosome location: 4q25

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022622	hsa-miR-124-3p	Microarray	18668037

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006649	Process	Phospholipid transfer to membrane	IEA
GO:0008483	Function	Transaminase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0032094	Process	Response to food	IEA
GO:0050459	Function	Ethanolamine-phosphate phospho-lyase activity	IBA
GO:0050459	Function	Ethanolamine-phosphate phospho-lyase activity	IDA	22241472
GO:0050459	Function	Ethanolamine-phosphate phospho-lyase activity	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0071385	Process	Cellular response to glucocorticoid stimulus	IEA
GO:1905372	Process	Ceramide phosphoethanolamine catabolic process	IEA

Other IDs

• MIM: 614682
• HGNC: 14404
• e!Ensembl: ENSG00000164089

Protein

• UniProt ID: Q8TBG4
• Protein name: Ethanolamine-phosphate phospho-lyase (EC 4.2.3.2) (Alanine--glyoxylate aminotransferase 2-like 1)
• Protein function: Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.
• PDB: 6TOR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00202	Aminotran_3	26 → 433	Aminotransferase class-III	Domain

• Sequence:

  MCELYSKRDTLGLRKKHIGPSCKVFFASDPIKIVRAQRQYMFDENGEQYLDCINNVAHVG
  HCHPGVVKAALKQMELLNTNSRFLHDNIVEYAKRLSATLPEKLSVCYFTNSGSEANDLAL
  RLARQFRGHQDVITLDHAYHGHLSSLIEISPYKFQKGKDVKKEFVHVAPTPDTYRGKYRE
  DHADSASAYADEVKKIIEDAHNSGRKIAAFIAESMQSCGGQIIPPAGYFQKVAEYVHGAG
  GVFIADEVQVGFGRVGKHFWSFQMYGEDFVPDIVTMGKPMGNGHPVACVVTTKEIAEAFS
  SSGMEYFNTYGGNPVSCAVGLAVLDIIENEDLQGNAKRVGNYLTELLKKQKAKHTLIGDI
  RGIGLFIGIDLVKDHLKRTPATAEAQHIIYKMKEKRVLLSADGPHRNVLKIKPPMCFTEE
  DAKFMVDQLDRILTVLEEAMGTKTESVTSENTPCKTKMLKEAHIELLRDSTTDSKENPSR
  KRNGMCTDTHSLLSKRLKT

• Sequence length: 499

Pathways

KEGG:

Glycerophospholipid metabolism
Metabolic pathways

Reactome:

Synthesis of PE

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar disorder	Pubtator	18191109	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	22241472		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	18191109		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	18191109		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37637156	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40154596	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26352407	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32647207	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32218467	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	26294768		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	40154596	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26294768		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	40154596	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26294768		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	39684817	Associate	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	36050999	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18191109, 22241472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18191109, 22241472		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	18191109	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	31783151		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34549263	Inhibit	★☆☆☆☆ Found in Text Mining only