LOCUS       NM_002861               5089 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens phosphate cytidylyltransferase 2, ethanolamine
            (PCYT2), transcript variant 2, mRNA.
ACCESSION   NM_002861 XM_001714257
VERSION     NM_002861.5
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 5089)
  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   2  (bases 1 to 5089)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 5089)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 5089)
  AUTHORS   Vaz,F.M., McDermott,J.H., Alders,M., Wortmann,S.B., Kolker,S.,
            Pras-Raves,M.L., Vervaart,M.A.T., van Lenthe,H., Luyf,A.C.M.,
            Elfrink,H.L., Metcalfe,K., Cuvertino,S., Clayton,P.E., Yarwood,R.,
            Lowe,M.P., Lovell,S., Rogers,R.C., van Kampen,A.H.C.,
            Ruiter,J.P.N., Wanders,R.J.A., Ferdinandusse,S., van Weeghel,M.,
            Engelen,M. and Banka,S.
  CONSRTM   Deciphering Developmental Disorders Study
  TITLE     Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a
            complex hereditary spastic paraplegia
  JOURNAL   Brain 142 (11), 3382-3397 (2019)
   PUBMED   31637422
  REMARK    GeneRIF: our data establish PCYT2 as a disease gene for a new
            complex hereditary spastic paraplegia and confirm that etherlipid
            homeostasis is important for the development and function of the
            brain
REFERENCE   5  (bases 1 to 5089)
  AUTHORS   Bakovic,M., Fullerton,M.D. and Michel,V.
  TITLE     Metabolic and molecular aspects of ethanolamine phospholipid
            biosynthesis: the role of CTP:phosphoethanolamine
            cytidylyltransferase (Pcyt2)
  JOURNAL   Biochem Cell Biol 85 (3), 283-300 (2007)
   PUBMED   17612623
  REMARK    Review article
REFERENCE   6  (bases 1 to 5089)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   7  (bases 1 to 5089)
  AUTHORS   Johnson,C.M., Yuan,Z. and Bakovic,M.
  TITLE     Characterization of transcription factors and cis-acting elements
            that regulate human CTP: phosphoethanolamine cytidylyltransferase
            (Pcyt2)
  JOURNAL   Biochim Biophys Acta 1735 (3), 230-235 (2005)
   PUBMED   16023412
  REMARK    GeneRIF: The Pcyt2 promoter is driven by a functional CAAT box
            (-90/-73) and by negative (-385/-255) and positive regulatory
            elements (-255/-153) in the upstream regions.
REFERENCE   8  (bases 1 to 5089)
  AUTHORS   Poloumienko,A., Cote,A., Quee,A.T., Zhu,L. and Bakovic,M.
  TITLE     Genomic organization and differential splicing of the mouse and
            human Pcyt2 genes
  JOURNAL   Gene 325, 145-155 (2004)
   PUBMED   14697519
REFERENCE   9  (bases 1 to 5089)
  AUTHORS   Bladergroen,B.A. and van Golde,L.M.
  TITLE     CTP:phosphoethanolamine cytidylyltransferase
  JOURNAL   Biochim Biophys Acta 1348 (1-2), 91-99 (1997)
   PUBMED   9370320
  REMARK    Review article
REFERENCE   10 (bases 1 to 5089)
  AUTHORS   Nakashima,A., Hosaka,K. and Nikawa,J.
  TITLE     Cloning of a human cDNA for CTP-phosphoethanolamine
            cytidylyltransferase by complementation in vivo of a yeast mutant
  JOURNAL   J Biol Chem 272 (14), 9567-9572 (1997)
   PUBMED   9083101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC010075.2, AC145207.2 and
            CA411562.1.
            
            On Jun 2, 2019 this sequence version replaced NM_002861.4.
            
            Summary: This gene encodes an enzyme that catalyzes the formation
            of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy
            pathway of phospholipid synthesis. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, May 2010].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (2) that is shorter than isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853558.11449.1,
                                           SRR18074968.3567548.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000538936.7/ ENSP00000439245.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-773               BC010075.2         30-802
            774-774             AC145207.2         80487-80487
            775-1815            BC010075.2         804-1844
            1816-2737           AC145207.2         82749-83670
            2738-3146           CA411562.1         18-426              c
            3147-5089           AC145207.2         84080-86022
FEATURES             Location/Qualifiers
     source          1..5089
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..5089
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /note="phosphate cytidylyltransferase 2, ethanolamine"
                     /db_xref="GeneID:5833"
                     /db_xref="HGNC:HGNC:8756"
                     /db_xref="MIM:602679"
     exon            1..133
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     CDS             45..1214
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /EC_number="2.7.7.14"
                     /note="isoform 2 is encoded by transcript variant 2;
                     phosphorylethanolamine transferase;
                     CTP:phosphoethanolamine cytidylyltransferase"
                     /codon_start=1
                     /product="ethanolamine-phosphate cytidylyltransferase
                     isoform 2"
                     /protein_id="NP_002852.1"
                     /db_xref="CCDS:CCDS11791.1"
                     /db_xref="GeneID:5833"
                     /db_xref="HGNC:HGNC:8756"
                     /db_xref="MIM:602679"
                     /translation="MIRNGRGAAGGAEQPGPGGRRAVRVWCDGCYDMVHYGHSNQLRQ
                     ARAMGDYLIVGVHTDEEIAKHKGPPVFTQEERYKMVQAIKWVDEVVPAAPYVTTLETL
                     DKYNCDFCVHGNDITLTVDGRDTYEEVKQAGRYRECKRTQGVSTTDLVGRMLLVTKAH
                     HSSQEMSSEYREYADSFGKCPGGRNPWTGVSQFLQTSQKIIQFASGKEPQPGETVIYV
                     AGAFDLFHIGHVDFLEKVHRLAERPYIIAGLHFDQEVNHYKGKNYPIMNLHERTLSVL
                     ACRYVSEVVIGAPYAVTAELLSHFKVDLVCHGKTEIIPDRDGSDPYQEPKRRGIFRQI
                     DSGSNLTTDLIVQRIITNRLEYEARNQKKEAKELAFLEAARQQAAQPLGERDGDF"
     exon            134..222
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            223..384
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            385..451
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            452..536
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            537..581
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            582..720
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            721..803
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            804..881
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            882..947
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1013
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            1014..1102
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..5089
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1794
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /note="major polyA site"
     polyA_site      1844
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /note="major polyA site"
     polyA_site      3140
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /note="major polyA site"
     regulatory      5064..5069
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /note="hexamer: AATAAA"
     polyA_site      5089
                     /gene="PCYT2"
                     /gene_synonym="ET; SPG82"
                     /note="major polyA site"
ORIGIN      
        1 gtcgccggga gctgccaggc tgtccgcgcc gccgctgcgg ggccatgatc cggaacgggc
       61 gcggggctgc aggcggcgca gagcagccgg gcccgggggg caggcgcgcc gtgagggtgt
      121 ggtgcgatgg ctgctatgac atggtgcatt acggccactc caaccagctg cgccaggcac
      181 gggccatggg tgactacctc atcgtaggcg tgcacaccga tgaggagatc gccaagcaca
      241 aggggccccc ggtgttcact caggaggaga gatacaagat ggtgcaggcc atcaaatggg
      301 tggacgaggt ggtgccagcg gctccctacg tcactacact agagaccctg gacaaataca
      361 actgtgactt ctgtgttcac ggcaatgaca tcaccctgac tgtagatggc cgggacacct
      421 atgaggaagt aaagcaggct gggaggtaca gagaatgcaa gcgcacgcaa ggggtgtcca
      481 ccacagacct cgtgggccgc atgctgctgg taaccaaagc ccatcacagc agccaggaga
      541 tgtcctctga gtaccgggag tatgcagaca gttttggcaa gtgccctggt gggcggaacc
      601 cctggaccgg ggtatcccag ttcctgcaga catctcagaa gatcatccag tttgcttctg
      661 ggaaggagcc ccagccaggg gagacagtca tctatgtggc tggtgccttc gacctgttcc
      721 acatcgggca tgtggacttc ctggagaagg tgcacaggct ggcagagagg ccctacatca
      781 tcgcgggctt acactttgac caggaggtca atcactacaa ggggaagaac taccccatca
      841 tgaatctgca tgaacggact ctgagcgtgc tggcctgccg gtacgtgtca gaagtggtga
      901 ttggagcccc gtacgcggtc acagcagagc tcctaagtca cttcaaggtg gacctggtgt
      961 gtcacggcaa gacagaaatt atccctgaca gggatggctc cgacccatac caggagccca
     1021 agagaagggg catcttccgt cagattgaca gtggcagcaa cctcaccaca gacctcatcg
     1081 tccagcggat catcaccaac aggttggagt atgaggcgcg aaaccagaag aaggaagcca
     1141 aggagctggc cttcctggag gctgccaggc agcaggcggc acagcccctg ggggagcgcg
     1201 atggtgactt ctaacctggc agaggccctg gccggccctc cccctgctct gcttctgcgc
     1261 cttctgcgtt tggacatagg actctgcagg gccgccctct ctaactggcc tggctctgga
     1321 agggctggtg aggactctgc ctccttgcct gcctacaagg tgcctggttt gcagcaggct
     1381 ctccgctctt tccagcaaag ctgctcagag agggtgtcca gcacagtgga gaggccggaa
     1441 gtgagacggg cagacggcac ctgcagcctg aaacgcaccg ctcctgcgtg cgcccccacc
     1501 tggtccccgg atgcccccac cacctggaca gaggccacac tgactgccca cccagctgtg
     1561 gcgggaggtg cagagcagag ggctttaggg agcagtgact gcggtcaccc ctttagttct
     1621 ctgggtgtag accacaccac ctcccactgg gcacccccca acacggtgtc ctgccaccca
     1681 gcgcctggct ccaggaaaac acgcttgcct tccttcccgg cagcttcgcc actctcctta
     1741 tggactctgt tctgtttgta catggctgac ggaaatctct ttggtacaac cgaataaagc
     1801 ctggtggcag tgctgcgcgg ggctcccagc cctgctggga aggaccaggg aaccactcag
     1861 caaggagacc ctcttggccc tgcccccacc atgcacccag cagccgggag tgcagcgggc
     1921 agcctggcag tgagtgaaac ccaggcctcc agccctccaa agcctggggc caccccctgt
     1981 agcaggcgat gctagaataa ggaggagagc cagagctgag gctccttgcc ccttggcccc
     2041 tccaggggcc atgggatctc tgtctcccac acccctgtca cggcccgcct ggagcagccc
     2101 agaggccgaa gaggttctta ctgcagcctc cgggaggtgt ctagggaggc catagattgc
     2161 ctggtctcgc cgcattcaaa atgaggctta tgatcagtac ttttttcagc cccacattcc
     2221 tctccagaat ggcctctgcc ctacagcacc tggcccatgt ggcaccccat gggcctgtcc
     2281 tctgctgttg tgaggtcgac ctcacgaccc agcacaggag ctggaggcga ggtgcacgcg
     2341 aggctctcca cagcccagga aggcagcctg tcaccctgct ctccgagcca ggggccaagg
     2401 tgtggggggc acaggccatc ctcatcctgc caggcccccg ctttcaggag tggggtggtg
     2461 ccaatgctcc cactcagaac cctggactgc ggggtcccct gagcagaggg accagccagt
     2521 tccccataga cagattggtg ctggacaggg gctgcctggg ccccaggctt ggggagggta
     2581 gaaaggccct gcagtgctgc tgcctgggcc cggaggtggg cctggccccg tagcagcatt
     2641 ggaggccaga gcccaagcca gttccggagt cacacccaac ggcggaggga gaacctaccc
     2701 atctcccacc ttcagctctg gggaggcatg ctctgggcct ctggagccag ggctcaggcc
     2761 cccaactctc ctccttgccc ctgcaccctc ggacttggcc tggccagaag ggatgggggc
     2821 aagaggaagg cagccagggg ctccagccca tgccctcaca gatttggctc tcgagttggg
     2881 gagcgaaggg ctgggggagg acactgggaa ccgggccagc cgtggccctg cacttccccc
     2941 agggagcacc aaggctaggc gcggcttcac cgcggggctg ggtcgtggcc agcttcgccc
     3001 ctgggtctga agacctctgg gcggcccagg ccaaccttgc cctgccgccg cacactcggc
     3061 tgccttctca tacccaggct tggggatttc caggtcccgt tcccctcgtg gcctggctgc
     3121 cagtcctcca gcacccctca ctccgaggcc gcctcattta tttattcgtt tgccattaac
     3181 tgcggggtga gcggagtagg ggagacctgg ggcgccatcc cgcgccggag gggcctgggg
     3241 tcaccgagtg ggacggtggg ggcggggggc ccccagcggt gccaggagag gtccgggctc
     3301 aggcggcgag gcagtcggct gcgcgcaggg acaggaagac gttcgccttg cactggtagg
     3361 tcccgcggcc gtcggggagc cgctcgcacc tctgcaggtt tggggcgacg tcctggacgc
     3421 acacagcctg gggggcaggc aagcaaaggc tgaggggccg ccgcaccccc acccacgtcc
     3481 tgccgccgcc ccccatcagt ccccggcacg ccggactcac gaggctccgc agcctggggt
     3541 gcagttgcag ctccggggag gcgccggccc cgcccggggg ttccgcccct ctgtagggct
     3601 gggagcgccg cgcgtacggg gacctgcgga ggccggacag cagccccgcg gcgcggccca
     3661 ccgagtagga gctgtgcccc gccgctggct tgtaccacgc gaggccaggc ggcgccagca
     3721 gcaggcacag cgccagggcg gcggccgcca gtgtcgcgga ccgggccatg gggacgccgg
     3781 ctgactggtg ggcggcggcg tccgggctcg gagcagccac cgcctgggcc gccttatatc
     3841 tgcggcgagg gcgggccgag gctgcggagg gccgggaggg gcggcgggcg ggctggggtg
     3901 cagcgggcgc gcgcggagga gccgtcgcac ctccgcatcc caaaggaacc agccgcgcgg
     3961 gcgagcgctg gaggcgcgca aggatctggc gcttggtggg agcccaacgc cccctcaagc
     4021 tccccaccca tgccgctcgc gcccttcagg cccggcttgc gtgggccgca gtggcagcag
     4081 gggagggccc acgggcgccc agccctagga gtcgtccccc aggcaatccc cagtactcct
     4141 gatgctggag agccagccac actgcacagt gccccggggg cggtttctac caccctaagg
     4201 ggtattcttg gctccaggca tcagagtcca tgtggcttgt ggggccctca tttctttcat
     4261 gcccactggg gaaggttcca ccagcagggc tgttactggc ggggtcctct gggagggggg
     4321 caagaaggcc agccacacca aggcactgga gctccacgac tcctggcctt cgattggagg
     4381 cccctctctg ccagctctgc cccttggggg gcaccaggca ggactgccag ccgctctcct
     4441 ggcaggtgac atcagccttc aagctcactg tgccctcacc atttcatgct cccccaaggt
     4501 cctggtcatg tcttctcttg ggtatcttcc caggacaggc actggcactg gagccctggc
     4561 acttgtttct gggttccatg cttcccaggt gtgatggtga atgctgagtg tcagcttgac
     4621 tggattgaag gatgcaaagt attgtcactg ggtgtgtctg tgagggtgtt gccagaggag
     4681 attcccattt gagtcagtgg gctgggagag gcagacccac cctcaatcca ggtgggcacc
     4741 acctaatcgg ctgccagcac agccaggata caagcaggca gaggaacgtg gaaagactag
     4801 actggctgaa tctggcctcc atctttctcc catgctggat gcttcccgcc ctcgcacgtc
     4861 ggcctccagg ttcttcagct tttggactct cggacctaca ccagtggctt gccaggggct
     4921 ctgcagcctt tggccacagg atgaaggctg cactatcggc ttctctactt ttgttttggg
     4981 actcagactg gcttccttgc tcctcacctt gcacatggct tattgtggga cttcaccttg
     5041 tgatcacgtg agtcaatact cccaataaac tcttcatata tactcttca
//
