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

Summary

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, Dec 2024]
Expression: Biased expression in liver (RPKM 37.5), brain (RPKM 36.7) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q25

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (108742053..108763053, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (112045047..112066004, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (109663209..109684209, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 protein binding	IPI Inferred from Physical Interaction 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
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

EC 4.2.3.2

NP_001140099.1

EC 4.2.3.2

NP_001317960.1

EC 4.2.3.2

NP_001317961.1

EC 4.2.3.2

NP_001317962.1

EC 4.2.3.2

NP_112569.2

EC 4.2.3.2

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)

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]
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
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
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
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
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