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

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

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, 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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001146590.2NP_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:24427
    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:14431
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
  2. NM_001146627.2NP_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:2383
    PRK06148; hypothetical protein; Provisional
  3. NM_001331031.2NP_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:1393
    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:1400
    argD; transaminase, acetylornithine/succinylornithine family
  4. NM_001331032.2NP_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:1393
    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:1400
    argD; transaminase, acetylornithine/succinylornithine family
  5. NM_001331033.2NP_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_031279.4NP_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:6441
    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)