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Aliases for ETNPPL Gene

Aliases for ETNPPL Gene

  • Ethanolamine-Phosphate Phospho-Lyase 2 3 5
  • Alanine--Glyoxylate Aminotransferase 2-Like 1 3 4
  • AGXT2L1 3 4
  • Alanine-Glyoxylate Aminotransferase 2-Like 1 2
  • EC 56
  • EC 56
  • EC 4
  • EC 2.6.1 56

External Ids for ETNPPL Gene

Previous HGNC Symbols for ETNPPL Gene

  • AGXT2L1

Previous GeneCards Identifiers for ETNPPL Gene

  • GC04M109664

Summaries for ETNPPL Gene

GeneCards Summary for ETNPPL Gene

ETNPPL (Ethanolamine-Phosphate Phospho-Lyase) is a Protein Coding gene. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and ethanolamine-phosphate phospho-lyase activity. An important paralog of this gene is PHYKPL.

UniProtKB/Swiss-Prot for ETNPPL Gene

  • Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.

Additional gene information for ETNPPL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETNPPL Gene

Genomics for ETNPPL Gene

GeneHancer (GH) Regulatory Elements for ETNPPL Gene

Promoters and enhancers for ETNPPL Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I108762 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 +0.2 178 1 ARID4B ZNF76 SIN3A DMAP1 ZNF2 THRB ZNF48 YY1 ZNF335 GLIS2 ETNPPL SEC24B-AS1 GC04P108682
GH04I108830 Enhancer 0.8 ENCODE 10.4 -67.7 -67701 0.2 ZSCAN26 ZBTB6 ZNF529 INSM2 MZF1 FEZF1 ZNF335 ZSCAN5C ZNF391 ZNF600 SEC24B-AS1 CYP2U1 RBMXP4 COL25A1 ZCCHC23 RRH ETNPPL GC04M108805 GC04M108908
GH04I109078 Enhancer 0.7 ENCODE 9.6 -316.5 -316477 1.8 BCOR JUN ZMYM3 RAD21 ZNF600 FOS CEBPB EP300 ZSCAN21 OSR2 ETNPPL GC04M108908 GC04P109269 GC04P109270 COL25A1
GH04I108833 Enhancer 0.6 ENCODE 5.1 -71.0 -71038 2.1 CTCF ZNF654 SOX6 REST RAD21 CC2D1A ARID2 SMC3 ZNF143 ETNPPL GC04M108805 GC04M108908 COL25A1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETNPPL on UCSC Golden Path with GeneCards custom track

Genomic Locations for ETNPPL Gene

Genomic Locations for ETNPPL Gene
21,040 bases
Minus strand

Genomic View for ETNPPL Gene

Genes around ETNPPL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETNPPL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETNPPL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETNPPL Gene

Proteins for ETNPPL Gene

  • Protein details for ETNPPL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Ethanolamine-phosphate phospho-lyase
    Protein Accession:
    Secondary Accessions:
    • B7Z1Y0
    • E9PBY0
    • Q9H174

    Protein attributes for ETNPPL Gene

    499 amino acids
    Molecular mass:
    55671 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer.

    Alternative splice isoforms for ETNPPL Gene


neXtProt entry for ETNPPL Gene

Selected DME Specific Peptides for ETNPPL Gene


Post-translational modifications for ETNPPL Gene

No Post-translational modifications

Domains & Families for ETNPPL Gene

Gene Families for ETNPPL Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ETNPPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ETNPPL: view

Function for ETNPPL Gene

Molecular function for ETNPPL Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=680 uM for phosphoethanolamine (at pH 7.4) {ECO:0000269 PubMed:22241472}; Vmax=1.46 umol/min/mg enzyme (at pH 7.4) {ECO:0000269 PubMed:22241472};
UniProtKB/Swiss-Prot CatalyticActivity:
Ethanolamine phosphate + H(2)O = acetaldehyde + NH(3) + phosphate.
UniProtKB/Swiss-Prot Function:
Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.

Enzyme Numbers (IUBMB) for ETNPPL Gene

Phenotypes From GWAS Catalog for ETNPPL Gene

Gene Ontology (GO) - Molecular Function for ETNPPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008453 alanine-glyoxylate transaminase activity IBA --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016829 lyase activity IEA --
GO:0030170 pyridoxal phosphate binding IBA,IEA --
genes like me logo Genes that share ontologies with ETNPPL: view
genes like me logo Genes that share phenotypes with ETNPPL: view

miRNA for ETNPPL Gene

miRTarBase miRNAs that target ETNPPL

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ETNPPL Gene

Localization for ETNPPL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETNPPL Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETNPPL gene
Compartment Confidence
mitochondrion 4
peroxisome 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ETNPPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IBA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ETNPPL: view

Pathways & Interactions for ETNPPL Gene

genes like me logo Genes that share pathways with ETNPPL: view

Pathways by source for ETNPPL Gene

Gene Ontology (GO) - Biological Process for ETNPPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006646 phosphatidylethanolamine biosynthetic process TAS --
genes like me logo Genes that share ontologies with ETNPPL: view

No data available for SIGNOR curated interactions for ETNPPL Gene

Drugs & Compounds for ETNPPL Gene

(6) Drugs for ETNPPL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ammonia Approved Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Pyridoxal Phosphate Approved, Investigational Nutra 17
Phosphorylcolamine Experimental Pharma 0
genes like me logo Genes that share compounds with ETNPPL: view

Transcripts for ETNPPL Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ETNPPL Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP5: - -
SP6: -

Relevant External Links for ETNPPL Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ETNPPL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETNPPL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETNPPL Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x7.6), Brain - Nucleus accumbens (basal ganglia) (x7.2), Brain - Amygdala (x7.1), and Brain - Putamen (basal ganglia) (x6.8).

Protein differential expression in normal tissues from HIPED for ETNPPL Gene

This gene is overexpressed in Nasal epithelium (34.9) and Cervix (25.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ETNPPL Gene

NURSA nuclear receptor signaling pathways regulating expression of ETNPPL Gene:


Evidence on tissue expression from TISSUES for ETNPPL Gene

  • Nervous system(4.9)
  • Kidney(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with ETNPPL: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETNPPL Gene

Orthologs for ETNPPL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ETNPPL Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AGXT2L1 33
  • 99.4 (n)
  • 99 (a)
(Bos Taurus)
Mammalia ETNPPL 33 34
  • 89.81 (n)
(Canis familiaris)
Mammalia ETNPPL 33 34
  • 88.5 (n)
(Mus musculus)
Mammalia Etnppl 33 16 34
  • 83.83 (n)
(Rattus norvegicus)
Mammalia Etnppl 33
  • 83.5 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
-- 34
  • 77 (a)
(Monodelphis domestica)
Mammalia ETNPPL 34
  • 73 (a)
(Gallus gallus)
Aves ETNPPL 34
  • 73 (a)
AGXT2L1 33
  • 72.41 (n)
(Anolis carolinensis)
Reptilia ETNPPL 34
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia etnppl 33
  • 72.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21131 33
(Danio rerio)
Actinopterygii etnppl 33 34
  • 69.63 (n)
zgc63486 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9344 33
fruit fly
(Drosophila melanogaster)
Insecta CG8745 33 34
  • 57.59 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000313 33
  • 56.97 (n)
(Caenorhabditis elegans)
Secernentea CELE_T01B11.2 33
  • 55.32 (n)
T01B11.2 34
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 34
  • 22 (a)
(Oryza sativa)
Liliopsida Os05g0475400 33
  • 53.47 (n)
(Zea mays)
Liliopsida Zm.2987 33
bread mold
(Neurospora crassa)
Ascomycetes NCU07623 33
  • 43 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1039.07c 33
  • 41.88 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1073 33
Species where no ortholog for ETNPPL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ETNPPL Gene

Gene Tree for ETNPPL (if available)
Gene Tree for ETNPPL (if available)

Paralogs for ETNPPL Gene

Paralogs for ETNPPL Gene

(2) SIMAP similar genes for ETNPPL Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ETNPPL: view

Variants for ETNPPL Gene

Sequence variations from dbSNP and Humsavar for ETNPPL Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs1000082968 -- 108,743,513(-) A/G intron_variant
rs1000138048 -- 108,756,511(-) G/C intron_variant
rs10002058 -- 108,759,930(-) C/T intron_variant
rs1000216775 -- 108,748,427(-) C/G intron_variant
rs1000367064 -- 108,755,048(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ETNPPL Gene

Variant ID Type Subtype PubMed ID
dgv163n6 CNV deletion 16902084
esv1523098 CNV deletion 17803354
esv2728120 CNV deletion 23290073
esv2728121 CNV deletion 23290073
esv991206 CNV deletion 20482838
nsv1000660 CNV gain 25217958
nsv290185 CNV deletion 16902084
nsv519226 CNV loss 19592680
nsv830034 CNV loss 17160897

Variation tolerance for ETNPPL Gene

Residual Variation Intolerance Score: 14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.78; 83.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETNPPL Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETNPPL Gene

Disorders for ETNPPL Gene

Additional Disease Information for ETNPPL

No disorders were found for ETNPPL Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ETNPPL Gene

Publications for ETNPPL Gene

  1. Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine. (PMID: 22241472) Veiga-da-Cunha M … Van Schaftingen E (The Journal of biological chemistry 2012) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Molecular cloning and sequencing of a cDNA encoding alanine-glyoxylate aminotransferase 2 from rat kidney. (PMID: 7592550) Lee IS … Kido R (Journal of biochemistry 1995) 2 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. AGXT2L1 is down-regulated in heptocellular carcinoma and associated with abnormal lipogenesis. (PMID: 26294768) Ding Q … Yu H (Journal of clinical pathology 2016) 3 58

Products for ETNPPL Gene

Sources for ETNPPL Gene

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