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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
  • Alanine-Glyoxylate Aminotransferase 2-Like 1 2 3
  • AGXT2L1 3 4
  • EC 2.6.1.11 63
  • EC 2.6.1.44 63
  • EC 4.2.3.2 4
  • EC 2.6.1 63

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 Glycerophospholipid biosynthesis and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and ethanolamine-phosphate phospho-lyase activity. An important paralog of this gene is AGXT2.

UniProtKB/Swiss-Prot for ETNPPL Gene

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

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

Genomics for ETNPPL Gene

Regulatory Elements for ETNPPL Gene

Enhancers for ETNPPL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ETNPPL on UCSC Golden Path with GeneCards custom track

Promoters for ETNPPL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ETNPPL on UCSC Golden Path with GeneCards custom track

Genomic Location for ETNPPL Gene

Chromosome:
4
Start:
108,742,040 bp from pter
End:
108,763,079 bp from pter
Size:
21,040 bases
Orientation:
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:
    Q8TBG4-AT2L1_HUMAN
    Recommended name:
    Ethanolamine-phosphate phospho-lyase
    Protein Accession:
    Q8TBG4
    Secondary Accessions:
    • B7Z1Y0
    • E9PBY0
    • Q9H174

    Protein attributes for ETNPPL Gene

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

    Alternative splice isoforms for ETNPPL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETNPPL Gene

Proteomics data for ETNPPL Gene at MOPED

Post-translational modifications for ETNPPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ETNPPL Gene

Suggested Antigen Peptide Sequences for ETNPPL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TBG4

UniProtKB/Swiss-Prot:

AT2L1_HUMAN :
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ETNPPL: view

No data available for Gene Families for ETNPPL Gene

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

Gene Ontology (GO) - Molecular Function for ETNPPL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030170 pyridoxal phosphate binding IEA,IBA --
GO:0042802 identical protein binding IBA --
genes like me logo Genes that share ontologies with ETNPPL: view
genes like me logo Genes that share phenotypes with ETNPPL: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ETNPPL

CRISPR Products

miRNA for ETNPPL Gene

miRTarBase miRNAs that target ETNPPL

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

Mitochondrion.

Gene Ontology (GO) - Cellular Components for ETNPPL Gene

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

No data available for Subcellular locations from COMPARTMENTS for ETNPPL Gene

Pathways & Interactions for ETNPPL Gene

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

Pathways by source for ETNPPL Gene

Interacting Proteins 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

(3) Drugs for ETNPPL Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
O-Phosphoethanolamine Experimental Pharma 0
ACETALDEHYDE Pharma Activation, Activator 0
Pyridoxal Phosphate Nutra 14

(3) Additional Compounds for ETNPPL Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with ETNPPL: view

Transcripts for ETNPPL Gene

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: - - - -
SP4:
SP5: - -
SP6: -

Relevant External Links for ETNPPL Gene

GeneLoc Exon Structure for
ETNPPL
ECgene alternative splicing isoforms for
ETNPPL

Expression for ETNPPL Gene

mRNA expression in normal human tissues 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



genes like me logo Genes that share expression patterns with ETNPPL: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ETNPPL 35
  • 89.81 (n)
  • 90.14 (a)
ETNPPL 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETNPPL 35
  • 88.5 (n)
  • 88.05 (a)
ETNPPL 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etnppl 35
  • 83.83 (n)
  • 83.97 (a)
Etnppl 16
Etnppl 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etnppl 35
  • 83.5 (n)
  • 83.37 (a)
oppossum
(Monodelphis domestica)
Mammalia ETNPPL 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 77 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia ETNPPL 36
  • 99 (a)
OneToOne
AGXT2L1 35
  • 99.4 (n)
  • 99.4 (a)
chicken
(Gallus gallus)
Aves AGXT2L1 35
  • 72.41 (n)
  • 73.55 (a)
ETNPPL 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETNPPL 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etnppl 35
  • 72.26 (n)
  • 75.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21131 35
zebrafish
(Danio rerio)
Actinopterygii etnppl 35
  • 69.63 (n)
  • 72.6 (a)
etnppl 36
  • 66 (a)
OneToOne
zgc63486 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9344 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000313 35
  • 56.97 (n)
  • 60.91 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8745 35
  • 57.59 (n)
  • 56.25 (a)
CG8745 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea CELE_T01B11.2 35
  • 55.32 (n)
  • 49.54 (a)
T01B11.2 36
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 36
  • 22 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os05g0475400 35
  • 53.47 (n)
  • 46.35 (a)
corn
(Zea mays)
Liliopsida Zm.2987 35
bread mold
(Neurospora crassa)
Ascomycetes NCU07623 35
  • 43 (n)
  • 32.79 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1039.07c 35
  • 41.88 (n)
  • 30.15 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1073 35
Species with no ortholog for ETNPPL:
  • 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

ENSEMBL:
Gene Tree for ETNPPL (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1377210 - 108,752,960(-) CAGAC(C/T)CAGCC nc-transcript-variant, reference, missense
rs716394 -- 108,751,603(+) GGAAA(C/T)AGATA intron-variant
rs752302 -- 108,749,833(-) CTACT(C/G)GGGAG intron-variant
rs752303 -- 108,749,470(-) TTTGC(C/T)TTTCA intron-variant
rs1078132 -- 108,749,156(+) AGCTT(C/T)ATTCT intron-variant

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)

Relevant External Links for ETNPPL Gene

HapMap Linkage Disequilibrium report
ETNPPL
Human Gene Mutation Database (HGMD)
ETNPPL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ETNPPL Gene

Disorders for ETNPPL Gene

Relevant External Links for ETNPPL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 2012) 2 3 4 67
  2. Kinetic characterization of the human O-phosphoethanolamine phospho-lyase reveals unconventional features of this specialized pyridoxal phosphate-dependent lyase. (PMID: 25327712) Schiroli D. … Peracchi A. (FEBS J. 2015) 3
  3. Strict reaction and substrate specificity of AGXT2L1, the human O-phosphoethanolamine phospho-lyase. (PMID: 23761375) Schiroli D. … Peracchi A. (IUBMB Life 2013) 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  5. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3

Products for ETNPPL Gene

Sources for ETNPPL Gene

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