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

Gene ID: 64850, updated on 13-Aug-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (108742053..108763053, complement)
110 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 RNA, U6 small nuclear 431, pseudogene Neighboring gene ribosomal protein L34 Neighboring gene oligosaccharyltransferase complex non-catalytic subunit Neighboring gene regulator of chromosome condensation 2 pseudogene 8 Neighboring gene collagen type XXV alpha 1 chain 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. 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
  2. AGXT2L1 is down-regulated in heptocellular carcinoma and associated with abnormal lipogenesis. Ding Q, et al. J Clin Pathol, 2016 Mar. PMID 26294768
  3. 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
  4. Strict reaction and substrate specificity of AGXT2L1, the human O-phosphoethanolamine phospho-lyase. Schiroli D, et al. IUBMB Life, 2013 Jul. PMID 23761375
  5. Transformation Foci in IDH1-mutated Gliomas Show STAT3 Phosphorylation and Downregulate the Metabolic Enzyme ETNPPL, a Negative Regulator of Glioma Growth. Leventoux N, et al. Sci Rep, 2020 Mar 26. PMID 32218467, Free PMC Article

See all (14) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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
 PubMed 
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/Swiss-Prot
    Q8TBG4
    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/Swiss-Prot
    Q8TBG4
    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/Swiss-Prot
    Q8TBG4
    UniProtKB/TrEMBL
    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/Swiss-Prot
    Q8TBG4
    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/Swiss-Prot
    Q8TBG4

  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
    Q8TBG4, Q9H174
    Related
    ENSP00000296486.3, ENST00000296486.8
    Conserved Domains (1) summary
    PRK06148
    Location:6 → 441
    PRK06148; hypothetical protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

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