LOCUS       NM_031279               2086 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ethanolamine-phosphate phospho-lyase (ETNPPL),
            transcript variant 1, mRNA.
ACCESSION   NM_031279
VERSION     NM_031279.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2086)
  AUTHORS   Chen,X., Liu,P., Zhang,W., Li,X., Wang,C., Han,F., Liu,W.,
            Huang,Y., Li,M., Li,Y., Sun,X., Fan,X., Li,W., Xiong,Y. and Qian,L.
  TITLE     ETNPPL modulates hyperinsulinemia-induced insulin resistance
            through the SIK1/ROS-mediated inactivation of the PI3K/AKT
            signaling pathway in hepatocytes
  JOURNAL   J Cell Physiol 238 (5), 1046-1062 (2023)
   PUBMED   36924049
  REMARK    GeneRIF: ETNPPL modulates hyperinsulinemia-induced insulin
            resistance through the SIK1/ROS-mediated inactivation of the
            PI3K/AKT signaling pathway in hepatocytes.
REFERENCE   2  (bases 1 to 2086)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2086)
  AUTHORS   Santinha,D., Klopot,A., Marques,I., Ellis,E., Jorns,C.,
            Johansson,H., Melo,T., Antonson,P., Jakobsson,T., Felix,V.,
            Gustafsson,J.A., Domingues,M.R., Mode,A. and Helguero,L.A.
  TITLE     Lipidomic analysis of human primary hepatocytes following LXR
            activation with GW3965 identifies AGXT2L1 as a main target
            associated to changes in phosphatidylethanolamine
  JOURNAL   J Steroid Biochem Mol Biol 198, 105558 (2020)
   PUBMED   31783151
  REMARK    GeneRIF: Lipidomic analysis of human primary hepatocytes following
            LXR activation with GW3965 identifies AGXT2L1 as a main target
            associated to changes in phosphatidylethanolamine.
REFERENCE   4  (bases 1 to 2086)
  AUTHORS   Leventoux,N., Augustus,M., Azar,S., Riquier,S., Villemin,J.P.,
            Guelfi,S., Falha,L., Bauchet,L., Goze,C., Ritchie,W., Commes,T.,
            Duffau,H., Rigau,V. and Hugnot,J.P.
  TITLE     Transformation Foci in IDH1-mutated Gliomas Show STAT3
            Phosphorylation and Downregulate the Metabolic Enzyme ETNPPL, a
            Negative Regulator of Glioma Growth
  JOURNAL   Sci Rep 10 (1), 5504 (2020)
   PUBMED   32218467
  REMARK    GeneRIF: Transformation Foci in IDH1-mutated Gliomas Show STAT3
            Phosphorylation and Downregulate the Metabolic Enzyme ETNPPL, a
            Negative Regulator of Glioma Growth.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2086)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   6  (bases 1 to 2086)
  AUTHORS   Ding,Q., Kang,J., Dai,J., Tang,M., Wang,Q., Zhang,H., Guo,W.,
            Sun,R. and Yu,H.
  TITLE     AGXT2L1 is down-regulated in heptocellular carcinoma and associated
            with abnormal lipogenesis
  JOURNAL   J Clin Pathol 69 (3), 215-220 (2016)
   PUBMED   26294768
  REMARK    GeneRIF: 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.
REFERENCE   7  (bases 1 to 2086)
  AUTHORS   Schiroli,D., Ronda,L. and Peracchi,A.
  TITLE     Kinetic characterization of the human O-phosphoethanolamine
            phospho-lyase reveals unconventional features of this specialized
            pyridoxal phosphate-dependent lyase
  JOURNAL   FEBS J 282 (1), 183-199 (2015)
   PUBMED   25327712
  REMARK    GeneRIF: 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.
REFERENCE   8  (bases 1 to 2086)
  AUTHORS   Schiroli,D., Cirrincione,S., Donini,S. and Peracchi,A.
  TITLE     Strict reaction and substrate specificity of AGXT2L1, the human
            O-phosphoethanolamine phospho-lyase
  JOURNAL   IUBMB Life 65 (7), 645-650 (2013)
   PUBMED   23761375
  REMARK    GeneRIF: AGXT2L1 function appears to be rigidly confined to
            phospholipid metabolism, which is altered in neuropsychiatric
            disturbances.
REFERENCE   9  (bases 1 to 2086)
  AUTHORS   Veiga-da-Cunha,M., Hadi,F., Balligand,T., Stroobant,V. and Van
            Schaftingen,E.
  TITLE     Molecular identification of hydroxylysine kinase and of
            ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and
            phosphoethanolamine
  JOURNAL   J Biol Chem 287 (10), 7246-7255 (2012)
   PUBMED   22241472
REFERENCE   10 (bases 1 to 2086)
  AUTHORS   Kalsi,G., Kuo,P.H., Aliev,F., Alexander,J., McMichael,O.,
            Patterson,D.G., Walsh,D., Zhao,Z., Schuckit,M., Nurnberger,J. Jr.,
            Edenberg,H., Kramer,J., Hesselbrock,V., Tischfield,J.A.,
            Vladimirov,V., Prescott,C.A., Dick,D.M., Kendler,K.S. and
            Riley,B.P.
  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
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
            Victor [added]; Tischfield, Jay A [added]]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC327590.1 and BC022526.1.
            
            On Nov 23, 2018 this sequence version replaced NM_031279.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC022526.1, SRR3476690.916595.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968832,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000296486.8/ ENSP00000296486.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               DC327590.1         29-176
            149-2086            BC022526.1         149-2086
FEATURES             Location/Qualifiers
     source          1..2086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..2086
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /note="ethanolamine-phosphate phospho-lyase"
                     /db_xref="GeneID:64850"
                     /db_xref="HGNC:HGNC:14404"
                     /db_xref="MIM:614682"
     exon            1..211
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             156..1655
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /EC_number="4.2.3.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     alanine--glyoxylate aminotransferase 2-like 1"
                     /codon_start=1
                     /product="ethanolamine-phosphate phospho-lyase isoform 1"
                     /protein_id="NP_112569.2"
                     /db_xref="CCDS:CCDS3682.1"
                     /db_xref="GeneID:64850"
                     /db_xref="HGNC:HGNC:14404"
                     /db_xref="MIM:614682"
                     /translation="MCELYSKRDTLGLRKKHIGPSCKVFFASDPIKIVRAQRQYMFDE
                     NGEQYLDCINNVAHVGHCHPGVVKAALKQMELLNTNSRFLHDNIVEYAKRLSATLPEK
                     LSVCYFTNSGSEANDLALRLARQFRGHQDVITLDHAYHGHLSSLIEISPYKFQKGKDV
                     KKEFVHVAPTPDTYRGKYREDHADSASAYADEVKKIIEDAHNSGRKIAAFIAESMQSC
                     GGQIIPPAGYFQKVAEYVHGAGGVFIADEVQVGFGRVGKHFWSFQMYGEDFVPDIVTM
                     GKPMGNGHPVACVVTTKEIAEAFSSSGMEYFNTYGGNPVSCAVGLAVLDIIENEDLQG
                     NAKRVGNYLTELLKKQKAKHTLIGDIRGIGLFIGIDLVKDHLKRTPATAEAQHIIYKM
                     KEKRVLLSADGPHRNVLKIKPPMCFTEEDAKFMVDQLDRILTVLEEAMGTKTESVTSE
                     NTPCKTKMLKEAHIELLRDSTTDSKENPSRKRNGMCTDTHSLLSKRLKT"
     exon            212..330
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            331..490
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            491..565
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            566..656
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            657..773
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            774..856
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            857..1082
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1083..1237
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1238..1327
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1458
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1459..1526
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..2086
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1800..1805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /note="hexamer: AATAAA"
     polyA_site      1821
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
     regulatory      1924..1929
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /note="hexamer: AATAAA"
     polyA_site      1948
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /note="major polyA site"
     regulatory      2068..2073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
                     /note="hexamer: AATAAA"
     polyA_site      2086
                     /gene="ETNPPL"
                     /gene_synonym="AGXT2L1"
ORIGIN      
        1 acgccaccgg tgacctccga cgccccgggc aagagaacgc caggagggat aacgggagga
       61 aggccggccg gggccgccaa ggcagtccca ggctcgcgta ggaggcgcgc agaccttgca
      121 ccttgcacct tcgcagcgcc ctgcaccccg ccaccatgtg cgagctgtac agtaagcggg
      181 acactctggg gctgaggaag aagcacatcg ggccctcatg caaagttttc tttgcatcgg
      241 atcccatcaa aatagtgaga gcccagaggc agtacatgtt tgatgagaac ggtgaacagt
      301 acttggactg catcaacaat gttgcccatg tgggacactg tcacccagga gtggtcaaag
      361 ctgccctgaa acagatggaa ctgctaaata caaattctcg attcctccac gacaacattg
      421 ttgagtatgc caaacgcctt tcagcaactc tgccggagaa actctctgtt tgttatttta
      481 caaattcagg atccgaagcc aacgacttag ccttacgcct ggctcggcag ttcagaggcc
      541 accaggatgt gatcactctt gaccatgctt accatggtca cctatcatcc ttaattgaga
      601 ttagcccata taagtttcag aaaggaaaag atgtcaaaaa agaatttgta catgtggcac
      661 caactccaga tacttacaga ggaaaatata gagaagacca tgcagactca gccagtgctt
      721 atgcagatga agtgaagaaa atcattgaag atgctcataa cagtggaagg aagattgctg
      781 cctttattgc tgaatccatg cagagttgtg gcggacaaat aattcctcca gcaggctact
      841 tccagaaagt ggcagaatat gtacacggtg cagggggtgt gtttatagct gatgaagttc
      901 aagtgggctt tggcagagtt gggaaacatt tctggagctt ccagatgtat ggtgaagact
      961 ttgttccaga catcgtcaca atgggaaaac cgatgggcaa cggccacccg gtggcatgtg
     1021 tggtaacaac caaagaaatt gcagaagcct tcagcagctc tgggatggaa tattttaata
     1081 cgtatggagg aaatccagta tcttgtgctg ttggtttggc tgtcctggat ataattgaaa
     1141 atgaagacct tcaaggaaat gccaagagag tagggaatta tctcactgag ttactgaaaa
     1201 aacagaaggc taaacacact ttgataggag atattagggg cattggcctt tttattggaa
     1261 ttgatttagt gaaggaccat ctgaaaagga cccctgccac agctgaagct cagcacatca
     1321 tctacaagat gaaagaaaaa cgagtgcttc tcagtgccga tggacctcat agaaatgtac
     1381 ttaaaataaa accacctatg tgcttcactg aagaagatgc aaagttcatg gtggaccaac
     1441 ttgataggat tctaacagtt ttagaagaag ctatgggaac caaaaccgaa agtgtgacct
     1501 ctgagaatac tccatgcaaa acaaagatgc tgaaagaagc ccacatagaa ctgcttaggg
     1561 acagcaccac tgactccaaa gaaaatccca gcagaaagag aaatggaatg tgcacggata
     1621 cacattcact gctcagtaag aggctcaaga catgactgat ttgcatttta aagcaagatg
     1681 cgatgtccag agttacagag aatgagtaga tgtgtctcat cggttaatag ctctattata
     1741 cctctaaagg tggaattgtc agtttagatt cataaatgaa aaggtaaatg agtaatcaga
     1801 ataaaccaag tgataatcaa accatgtcaa gattattagt tcagactcta gcctgttaat
     1861 tttcttagtt gatttctgaa gctacctgat ttattctatt aaattgtaag cttgcaaact
     1921 caaaataaat tggcagattt acctctcatg ttttaatgtg tcaaattaga gagcaaagta
     1981 taacaggtgc cttcactttt gagacttagt gccttaaaat atgtattcta taatgatttc
     2041 atatataaaa gtatatttat tgactgtaat aaaataaaat atgatg
//
