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    ETNPPL ethanolamine-phosphate phospho-lyase [ Homo sapiens (human) ]

    Gene ID: 64850, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ETNPPLprovided by HGNC
    Official Full Name
    ethanolamine-phosphate phospho-lyaseprovided by HGNC
    Primary source
    HGNC:HGNC:14404
    See related
    Ensembl:ENSG00000164089 MIM:614682; AllianceGenome:HGNC:14404
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGXT2L1
    Summary
    Enables ethanolamine-phosphate phospho-lyase activity. Predicted to be located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in liver (RPKM 37.5), brain (RPKM 36.7) and 3 other tissues See more
    Orthologs
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    Genomic context

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    See ETNPPL in Genome Data Viewer
    Location:
    4q25
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (108742053..108763053, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (112045047..112066004, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (109663209..109684209, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:109541270-109542469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21799 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21800 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:109574151-109574665 Neighboring gene RNA, U6 small nuclear 431, pseudogene Neighboring gene ribosomal protein L34 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:109634746-109635604 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:109635605-109636463 Neighboring gene oligosaccharyltransferase complex non-catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:109708719-109709219 Neighboring gene regulator of chromosome condensation 2 pseudogene 8 Neighboring gene collagen type XXV alpha 1 chain Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:109852739-109853343 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_71593 Neighboring gene uncharacterized LOC124900756

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes. Chen X, et al. J Cell Physiol, 2023 May. PMID 36924049
    2. Lipidomic analysis of human primary hepatocytes following LXR activation with GW3965 identifies AGXT2L1 as a main target associated to changes in phosphatidylethanolamine. Santinha D, et al. J Steroid Biochem Mol Biol, 2020 Apr. PMID 31783151
    3. AGXT2L1 is down-regulated in heptocellular carcinoma and associated with abnormal lipogenesis. Ding Q, et al. J Clin Pathol, 2016 Mar. PMID 26294768
    4. Kinetic characterization of the human O-phosphoethanolamine phospho-lyase reveals unconventional features of this specialized pyridoxal phosphate-dependent lyase. Schiroli D, et al. FEBS J, 2015 Jan. PMID 25327712
    5. Strict reaction and substrate specificity of AGXT2L1, the human O-phosphoethanolamine phospho-lyase. Schiroli D, et al. IUBMB Life, 2013 Jul. PMID 23761375

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes.
      Title: ETNPPL modulates hyperinsulinemia-induced insulin resistance through the SIK1/ROS-mediated inactivation of the PI3K/AKT signaling pathway in hepatocytes.
    2. Transformation Foci in IDH1-mutated Gliomas Show STAT3 Phosphorylation and Downregulate the Metabolic Enzyme ETNPPL, a Negative Regulator of Glioma Growth.
      Title: Transformation Foci in IDH1-mutated Gliomas Show STAT3 Phosphorylation and Downregulate the Metabolic Enzyme ETNPPL, a Negative Regulator of Glioma Growth.
    3. Lipidomic analysis of human primary hepatocytes following LXR activation with GW3965 identifies AGXT2L1 as a main target associated to changes in phosphatidylethanolamine.
      Title: Lipidomic analysis of human primary hepatocytes following LXR activation with GW3965 identifies AGXT2L1 as a main target associated to changes in phosphatidylethanolamine.
    4. AGXT2L1 is down-regulated in hepatocellular carcinoma and its low expression indicates a poor prognosis. AGXT2L1 is a crucial gene in the abnormal lipogenesis of HCC tissue.
      Title: AGXT2L1 is down-regulated in heptocellular carcinoma and associated with abnormal lipogenesis.
    5. The pH dependence of the catalytic parameters and the pattern of inhibition by the product phosphate and by other anionic compounds suggest that the active site of PEA phospho-lyase is optimized to bind dianionic groups.
      Title: Kinetic characterization of the human O-phosphoethanolamine phospho-lyase reveals unconventional features of this specialized pyridoxal phosphate-dependent lyase.
    6. AGXT2L1 function appears to be rigidly confined to phospholipid metabolism, which is altered in neuropsychiatric disturbances.
      Title: Strict reaction and substrate specificity of AGXT2L1, the human O-phosphoethanolamine phospho-lyase.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ethanolamine-phosphate phospho-lyase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ethanolamine-phosphate phospho-lyase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transaminase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ethanolamine-phosphate phospho-lyase
    Names
    alanine--glyoxylate aminotransferase 2-like 1
    NP_001140062.1
    NP_001140099.1
    NP_001317960.1
    NP_001317961.1
    NP_001317962.1
    NP_112569.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001146590.2 → NP_001140062.1  ethanolamine-phosphate phospho-lyase isoform 2

      See identical proteins and their annotated locations for NP_001140062.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      AJ298293, DC327590
      Consensus CDS
      CCDS54793.1
      UniProtKB/TrEMBL
      B7Z224
      Related
      ENSP00000392269.2, ENST00000411864.6
      Conserved Domains (2) summary
      cd00610
      Location:24 → 427
      OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
      COG0160
      Location:14 → 431
      GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]

    2. NM_001146627.2 → NP_001140099.1  ethanolamine-phosphate phospho-lyase isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK294072, BC022526, DC327590
      Consensus CDS
      CCDS54792.1
      UniProtKB/TrEMBL
      B7Z224
      Related
      ENSP00000427065.1, ENST00000512646.5
      Conserved Domains (1) summary
      PRK06148
      Location:2 → 383
      PRK06148; hypothetical protein; Provisional

    3. NM_001331031.2 → NP_001317960.1  ethanolamine-phosphate phospho-lyase isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in its 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (4) that has a shorter N-terminus, compared to isoform 1. Variants 4 and 6 encode the same isoform (3).
      Source sequence(s)
      AC097473, BC022526, DC327590
      Consensus CDS
      CCDS82944.1
      UniProtKB/TrEMBL
      B7Z224, E7ENR6
      Conserved Domains (2) summary
      cd00610
      Location:1 → 393
      OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
      TIGR00707
      Location:1 → 400
      argD; transaminase, acetylornithine/succinylornithine family

    4. NM_001331032.2 → NP_001317961.1  ethanolamine-phosphate phospho-lyase isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in its 5' terminal exon compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (4) that has a shorter N-terminus, compared to isoform 1. Variants 4 and 6 encode the same isoform (3).
      Source sequence(s)
      AK294235, BC022526
      Consensus CDS
      CCDS82944.1
      UniProtKB/TrEMBL
      B7Z224, E7ENR6
      Related
      ENSP00000423240.1, ENST00000510706.5
      Conserved Domains (2) summary
      cd00610
      Location:1 → 393
      OAT_like; Acetyl ornithine aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to ornithine aminotransferase, acetylornithine aminotransferase, ...
      TIGR00707
      Location:1 → 400
      argD; transaminase, acetylornithine/succinylornithine family

    5. NM_001331033.2 → NP_001317962.1  ethanolamine-phosphate phospho-lyase isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR and lacks a portion of the 5' coding region compared to variant 1. This variant represents translation initiation at a downstream start codon compared to variant 1; the 5'-most initiation codon, as used in variant 1, is associated with a truncated ORF that would render the transcript a candidate for nonsense-mediated decay (NMD). Leaky scanning may allow translation initiation at the downstream start codon to encode an isoform (5) that has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      BC022526, DC311077
      UniProtKB/TrEMBL
      B7Z224

    6. NM_031279.4 → NP_112569.2  ethanolamine-phosphate phospho-lyase isoform 1

      See identical proteins and their annotated locations for NP_112569.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC022526, DC327590
      Consensus CDS
      CCDS3682.1
      UniProtKB/Swiss-Prot
      B7Z1Y0, E9PBY0, Q8TBG4, Q9H174
      UniProtKB/TrEMBL
      B7Z224
      Related
      ENSP00000296486.3, ENST00000296486.8
      Conserved Domains (1) summary
      PRK06148
      Location:6 → 441
      PRK06148; hypothetical protein; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      108742053..108763053 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      112045047..112066004 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TBG4.1 GenPept UniProtKB/Swiss-Prot:Q8TBG4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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