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

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

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    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 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)

    NEW Try the new Transcript table

    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/TrEMBL
      B7Z224
      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/TrEMBL
      B7Z224
      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/TrEMBL
      B7Z224, 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/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/TrEMBL
      B7Z224
    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
      B7Z1Y0, E9PBY0, Q8TBG4, Q9H174
      UniProtKB/TrEMBL
      B7Z224
      Related
      ENSP00000296486.3, ENST00000296486.8
      Conserved Domains (1) summary
      PRK06148
      Location:6441
      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)