LOCUS       NM_006319               1843 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase
            (CDIPT), transcript variant 1, mRNA.
ACCESSION   NM_006319
VERSION     NM_006319.5
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 1843)
  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   2  (bases 1 to 1843)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   3  (bases 1 to 1843)
  AUTHORS   Kaur,J., Sawhney,M., Dattagupta,S., Shukla,N.K., Srivastava,A. and
            Ralhan,R.
  TITLE     Clinical significance of phosphatidyl inositol synthase
            overexpression in oral cancer
  JOURNAL   BMC Cancer 10, 168 (2010)
   PUBMED   20426864
  REMARK    GeneRIF: Increased CDIPT expression was found to be an early event
            in oral cancer and a target for smokeless tobacco.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1843)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   5  (bases 1 to 1843)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 1843)
  AUTHORS   de Serres,F.J., Luisetti,M., Ferrarotti,I., Blanco,I. and
            Fernandez-Bustillo,E.
  TITLE     Alpha-1 antitrypsin deficiency in Italy: regional differences of
            the PIS and PIZ deficiency alleles
  JOURNAL   Monaldi Arch Chest Dis 63 (3), 133-141 (2005)
   PUBMED   16312203
  REMARK    GeneRIF: AAT Deficiency affects at least 120.5 million carriers and
            deficient subjects worldwide for the two most prevalent deficiency
            alleles PIZ.
REFERENCE   7  (bases 1 to 1843)
  AUTHORS   Lykidis,A., Jackson,P.D., Rock,C.O. and Jackowski,S.
  TITLE     The role of CDP-diacylglycerol synthetase and phosphatidylinositol
            synthase activity levels in the regulation of cellular
            phosphatidylinositol content
  JOURNAL   J Biol Chem 272 (52), 33402-33409 (1997)
   PUBMED   9407135
REFERENCE   8  (bases 1 to 1843)
  AUTHORS   Antonsson,B.
  TITLE     Phosphatidylinositol synthase from mammalian tissues
  JOURNAL   Biochim Biophys Acta 1348 (1-2), 179-186 (1997)
   PUBMED   9370331
  REMARK    Review article
REFERENCE   9  (bases 1 to 1843)
  AUTHORS   Antonsson,B.E.
  TITLE     Purification and characterization of phosphatidylinositol synthase
            from human placenta
  JOURNAL   Biochem J 297 (Pt 3) (Pt 3), 517-522 (1994)
   PUBMED   8110188
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK097691.1 and AI696848.1.
            
            On Nov 23, 2018 this sequence version replaced NM_006319.4.
            
            Summary: Phosphatidylinositol breakdown products are ubiquitous
            second messengers that function downstream of many G
            protein-coupled receptors and tyrosine kinases regulating cell
            growth, calcium metabolism, and protein kinase C activity. Two
            enzymes, CDP-diacylglycerol synthase and phosphatidylinositol
            synthase, are involved in the biosynthesis of phosphatidylinositol.
            Phosphatidylinositol synthase, a member of the CDP-alcohol
            phosphatidyl transferase class-I family, is an integral membrane
            protein found on the cytoplasmic side of the endoplasmic reticulum
            and the Golgi apparatus. Several transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Nov 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC001444.2, AK097691.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000219789.11/ ENSP00000219789.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1842              AK097691.1         509-2350
            1843-1843           AI696848.1         24-24               c
FEATURES             Location/Qualifiers
     source          1..1843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..1843
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /note="CDP-diacylglycerol--inositol
                     3-phosphatidyltransferase"
                     /db_xref="GeneID:10423"
                     /db_xref="HGNC:HGNC:1769"
                     /db_xref="MIM:605893"
     exon            1..412
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             370..1011
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /EC_number="2.7.8.11"
                     /note="isoform 1 is encoded by transcript variant 1;
                     PtdIns synthase; PI synthase; phosphatidylinositol
                     synthase"
                     /codon_start=1
                     /product="CDP-diacylglycerol--inositol
                     3-phosphatidyltransferase isoform 1"
                     /protein_id="NP_006310.1"
                     /db_xref="CCDS:CCDS10657.1"
                     /db_xref="GeneID:10423"
                     /db_xref="HGNC:HGNC:1769"
                     /db_xref="MIM:605893"
                     /translation="MPDENIFLFVPNLIGYARIVFAIISFYFMPCCPLTASSFYLLSG
                     LLDAFDGHAARALNQGTRFGAMLDMLTDRCSTMCLLVNLALLYPGATLFFQISMSLDV
                     ASHWLHLHSSVVRGSESHKMIDLSGNPVLRIYYTSRPALFTLCAGNELFYCLLYLFHF
                     SEGPLVGSVGLFRMGLWVTAPIALLKSLISVIHLITAARNMAALDAADRAKKK"
     exon            413..547
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /inference="alignment:Splign:2.1.0"
     exon            548..701
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /inference="alignment:Splign:2.1.0"
     exon            702..783
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /inference="alignment:Splign:2.1.0"
     exon            784..865
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /inference="alignment:Splign:2.1.0"
     exon            866..1843
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1821..1826
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /note="hexamer: AATAAA"
     polyA_site      1843
                     /gene="CDIPT"
                     /gene_synonym="PIS; PIS1"
                     /note="major polyA site"
ORIGIN      
        1 aagccacttt ttcctctctc caattttgca acgacgggcg cggaggagga ggttcccgga
       61 agccacgcgc agctggagca gcggcgaccg cagctggagg cccggagcgc ctgcggggct
      121 ggcagaggcg agggaggttg cgggtaggaa gggcggactg cgcgcgcccc ctgcgtcccg
      181 cgcacctcgg ggccggtcca tgctcccgac ggctgcgggc ttcagcatct ggggccaggt
      241 tggggcggcg gggtccaggg cgcaggtggt gcggccgatg cgccgggccg gaggctgagg
      301 ccgcgctgcg gggctgggac agcactggca tctccagagc aggcccgggg cagcaaggga
      361 ggcgccgcga tgccagacga aaatatcttc ctgttcgtgc ccaacctcat cggttatgcc
      421 cggattgtct tcgccatcat ttctttctac ttcatgccct gctgccccct cacggcctcc
      481 tccttctacc tgctcagcgg cctgctggac gctttcgatg gacacgctgc tcgcgctctt
      541 aatcaaggaa cccggtttgg ggccatgctg gacatgctga cggaccgctg ctccaccatg
      601 tgcctgttgg tcaacctggc cctgctgtac cctggagcca cgctgttctt ccaaatcagc
      661 atgagtttgg atgtggccag tcactggctg cacctccaca gttctgtggt ccgaggcagt
      721 gagagtcaca agatgatcga cttgtccggg aatccggtgc ttcggatcta ctacacctcg
      781 aggcctgctc tgttcacctt gtgtgctggg aatgagctct tctactgcct cctctacctg
      841 ttccatttct ctgagggacc tttagttggc tctgtgggac tgttccggat gggcctctgg
      901 gtcactgccc ccatcgcctt gctgaagtcg ctcatcagcg tcatccacct gatcacggcc
      961 gcccgcaaca tggctgccct ggacgcagca gaccgcgcca agaagaagtg acgctggagc
     1021 cccgggtcct ggctgcccac ctgccctggg agtcttgctg tgccacacag ctccccaccc
     1081 cctgctagga ggtcccagtc tcacgccttc ctcatgtgtt gttctacctg ctgggatggg
     1141 ggtcagcctc tctttggtga cgtcacgttc tctgggatcc tgaggacccg ggcctcaaat
     1201 cagggaggat acgcgggagg ccccctccat ccaggcggtg ctcctggggt gccgggaccg
     1261 ggcagtgtca caccctgcct gctcagtcct ggggtccgag atgctaggga cgcttgagtg
     1321 agggaggtgg tgtgagggcc aggtttcctg aaaggcggga gtcagacctc cgcccccagc
     1381 cagagcaagc ttggggcacc atgcccagga gggaagaagc catccacagc cttccctgtc
     1441 accggctcct ctgtcctgcc taccctggtc ctggcgggac ttcactattt gacttggttt
     1501 cctttcagat attcttggct cagggcctgg gttgagggag cttagggaag gacgtccgtc
     1561 tgggtgcttt tcctccagtt tgctggctgg cttctccgtc tacccacagt gacctcacag
     1621 agaggccctc ctgccaccca tgctcatgtg gtgtccccac cgcccacttg tttgatgtca
     1681 ctgactgtct acatgtattt atattcttga tattttctac cctcactaga atgtaaactc
     1741 catgaaggca cagacttttc ttgttctctt ctctatccct agagtaagac caacttgaac
     1801 ctggcatata gtagctgctt aataaatact cgtctgtcaa tga
//
