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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 2.6.1.11 58
  • EC 2.6.1.44 58
  • EC 4.2.3.2 4
  • EC 2.6.1 58

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. 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

Regulatory Elements for ETNPPL Gene

Enhancers for ETNPPL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H108830 0.8 ENCODE 10.4 -67.7 -67701 0 ZSCAN26 INSM2 FEZF1 ZSCAN5C ZNF600 ZNF391 GFI1B ZNF501 ZNF843 NR2F2 CYP2U1 COL25A1 ZCCHC23 ETNPPL SEC24B-AS1 GC04M108805 GC04M108908
GH04H109078 0.7 ENCODE 9.6 -316.5 -316478 1 BCOR JUN ZMYM3 RAD21 FOS ZNF600 MAFK CEBPB EP300 ZSCAN21 ETNPPL GC04M108908 GC04P109269 GC04P109270
GH04H108833 0.6 ENCODE 5.1 -71.0 -71039 2 CC2D1A CTCF ZNF654 SOX6 SMC3 ZNF143 REST RAD21 ETNPPL GC04M108805 GC04M108908
GH04H108762 0.9 ENCODE 0.7 +0.3 252 0 ARID4B ZNF76 DMAP1 ZNF2 THRB YY1 GLIS2 ZNF366 MXD4 ZEB2 SEC24B-AS1 ETNPPL GC04P108682
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000171745 179 1001 ARID4B ZNF76 DMAP1 ZNF2 THRB YY1 ZNF366 MXD4 ZEB2 REST

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

Selected DME Specific Peptides for ETNPPL Gene

Q8TBG4:
  • GPSCKVFF
  • PDIVTMGK
  • KQMELLNTNSRFLHD
  • NSGSEANDLALRLA
  • GMEYFNT
  • LLSADGPHRNVLK
  • IKPPMCFT
  • IAAFIAESMQSCGGQIIPPAGYFQKV
  • YFNTYGGNPV
  • HIGPSCK
  • YLDCINNVAHVGH

Post-translational modifications for ETNPPL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

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 IEA,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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ETNPPL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

Subcellular locations from

COMPARTMENTS
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
Phosphorylcolamine Experimental Pharma 0
ACETALDEHYDE Pharma Activation, Activator 0
genes like me logo Genes that share compounds with ETNPPL: view

Transcripts for ETNPPL Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ETNPPL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

ETNPPL

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia AGXT2L1 33
  • 99.4 (n)
ETNPPL 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETNPPL 33 34
  • 89.81 (n)
dog
(Canis familiaris)
Mammalia ETNPPL 33 34
  • 88.5 (n)
mouse
(Mus musculus)
Mammalia Etnppl 33 16 34
  • 83.83 (n)
rat
(Rattus norvegicus)
Mammalia Etnppl 33
  • 83.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
-- 34
  • 77 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ETNPPL 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETNPPL 34
  • 73 (a)
OneToOne
AGXT2L1 33
  • 72.41 (n)
lizard
(Anolis carolinensis)
Reptilia ETNPPL 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etnppl 33
  • 72.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21131 33
zebrafish
(Danio rerio)
Actinopterygii etnppl 34 33
  • 69.63 (n)
OneToOne
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)
worm
(Caenorhabditis elegans)
Secernentea CELE_T01B11.2 33
  • 55.32 (n)
T01B11.2 34
  • 45 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ARG8 34
  • 22 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os05g0475400 33
  • 53.47 (n)
corn
(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

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
rs1000082968 -- 108,743,513(+) TCTAT(A/G)TATAT intron-variant
rs1000138048 -- 108,756,511(+) ATAGA(C/G)AGAGA intron-variant
rs10002058 -- 108,759,930(+) AAAAG(C/T)CCAAG intron-variant
rs1000216775 -- 108,748,427(+) AAAAG(C/G)AGACA intron-variant
rs1000367064 -- 108,755,048(+) TGCAA(C/T)ACTTT 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)

Relevant External Links for ETNPPL Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 (The Journal of biological chemistry 2012) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  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 60

Products for ETNPPL Gene

Sources for ETNPPL Gene

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