LOCUS       NM_006224               3888 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens phosphatidylinositol transfer protein alpha (PITPNA),
            mRNA.
ACCESSION   NM_006224
VERSION     NM_006224.4
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 3888)
  AUTHORS   Yeh,Y.T., Sona,C., Yan,X., Li,Y., Pathak,A., McDermott,M.I.,
            Xie,Z., Liu,L., Arunagiri,A., Wang,Y., Cazenave-Gassiot,A.,
            Ghosh,A., von Meyenn,F., Kumarasamy,S., Najjar,S.M., Jia,S.,
            Wenk,M.R., Traynor-Kaplan,A., Arvan,P., Barg,S., Bankaitis,V.A. and
            Poy,M.N.
  TITLE     Restoration of PITPNA in Type 2 diabetic human islets reverses
            pancreatic beta-cell dysfunction
  JOURNAL   Nat Commun 14 (1), 4250 (2023)
   PUBMED   37460527
  REMARK    GeneRIF: Restoration of PITPNA in Type 2 diabetic human islets
            reverses pancreatic beta-cell dysfunction.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3888)
  AUTHORS   Lambert,M.R., Spinazzola,J.M., Widrick,J.J., Pakula,A.,
            Conner,J.R., Chin,J.E., Owens,J.M. and Kunkel,L.M.
  TITLE     PDE10A Inhibition Reduces the Manifestation of Pathology in DMD
            Zebrafish and Represses the Genetic Modifier PITPNA
  JOURNAL   Mol Ther 29 (3), 1086-1101 (2021)
   PUBMED   33221436
  REMARK    GeneRIF: PDE10A Inhibition Reduces the Manifestation of Pathology
            in DMD Zebrafish and Represses the Genetic Modifier PITPNA.
REFERENCE   3  (bases 1 to 3888)
  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   4  (bases 1 to 3888)
  AUTHORS   Jing,L., Song,F., Liu,Z., Li,J., Wu,B., Fu,Z., Jiang,J. and Chen,Z.
  TITLE     MLKL-PITPalpha signaling-mediated necroptosis contributes to
            cisplatin-triggered cell death in lung cancer A549 cells
  JOURNAL   Cancer Lett 414, 136-146 (2018)
   PUBMED   29104146
  REMARK    GeneRIF: Data show that phosphatidylinositol transfer protein alpha
            (PITPalpha) is involved in the function of mixed lineage kinase
            domain-like protein (MLKL) in necroptosis.
REFERENCE   5  (bases 1 to 3888)
  AUTHORS   Garner,K., Hunt,A.N., Koster,G., Somerharju,P., Groves,E., Li,M.,
            Raghu,P., Holic,R. and Cockcroft,S.
  TITLE     Phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1)
            binds and transfers phosphatidic acid
  JOURNAL   J Biol Chem 287 (38), 32263-32276 (2012)
   PUBMED   22822086
REFERENCE   6  (bases 1 to 3888)
  AUTHORS   Kauffmann-Zeh,A., Thomas,G.M., Ball,A., Prosser,S., Cunningham,E.,
            Cockcroft,S. and Hsuan,J.J.
  TITLE     Requirement for phosphatidylinositol transfer protein in epidermal
            growth factor signaling
  JOURNAL   Science 268 (5214), 1188-1190 (1995)
   PUBMED   7761838
REFERENCE   7  (bases 1 to 3888)
  AUTHORS   Dickeson,S.K., Helmkamp,G.M. Jr. and Yarbrough,L.R.
  TITLE     Sequence of a human cDNA encoding phosphatidylinositol transfer
            protein and occurrence of a related sequence in widely divergent
            eukaryotes
  JOURNAL   Gene 142 (2), 301-305 (1994)
   PUBMED   8194769
REFERENCE   8  (bases 1 to 3888)
  AUTHORS   Fitzgibbon,J., Pilz,A., Gayther,S., Appukuttan,B., Dulai,K.S.,
            Delhanty,J.D., Helmkamp,G.M. Jr., Yarbrough,L.R. and Hunt,D.M.
  TITLE     Localization of the gene encoding human phosphatidylinositol
            transfer protein (PITPN) to 17p13.3: a gene showing homology to the
            Drosophila retinal degeneration B gene (rdgB)
  JOURNAL   Cytogenet Cell Genet 67 (3), 205-207 (1994)
   PUBMED   7914867
REFERENCE   9  (bases 1 to 3888)
  AUTHORS   Hay,J.C. and Martin,T.F.
  TITLE     Phosphatidylinositol transfer protein required for ATP-dependent
            priming of Ca(2+)-activated secretion
  JOURNAL   Nature 366 (6455), 572-575 (1993)
   PUBMED   8255295
REFERENCE   10 (bases 1 to 3888)
  AUTHORS   Wirtz,K.W.
  TITLE     Phospholipid transfer proteins
  JOURNAL   Annu Rev Biochem 60, 73-99 (1991)
   PUBMED   1883207
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL542612.3, BC082976.1 and
            AC100748.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_006224.3.
            
            Summary: This gene encodes a member of a family of lipid-binding
            proteins that transfer molecules of phosphatidylinositol or
            phosphatidylcholine between membrane surfaces. The protein is
            implicated in phospholipase C signaling and in the production of
            phosphatidylinositol 3,4,5-trisphosphate (PIP3) by
            phosphoinositide-3-kinase.[provided by RefSeq, Sep 2009].
            
            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 :: BC082976.1, EU794647.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313486.12/ ENSP00000316809.7
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-61                AL542612.3         25-85
            62-3617             BC082976.1         1-3556
            3618-3888           AC100748.2         51985-52255
FEATURES             Location/Qualifiers
     source          1..3888
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17p13.3"
     gene            1..3888
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /note="phosphatidylinositol transfer protein alpha"
                     /db_xref="GeneID:5306"
                     /db_xref="HGNC:HGNC:9001"
                     /db_xref="MIM:600174"
     exon            1..252
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     CDS             233..1045
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /note="PI-TP-alpha; ptdInsTP alpha; epididymis secretory
                     protein Li 36; ptdIns transfer protein alpha"
                     /codon_start=1
                     /product="phosphatidylinositol transfer protein alpha
                     isoform"
                     /protein_id="NP_006215.1"
                     /db_xref="CCDS:CCDS45563.1"
                     /db_xref="GeneID:5306"
                     /db_xref="HGNC:HGNC:9001"
                     /db_xref="MIM:600174"
                     /translation="MVLLKEYRVILPVSVDEYQVGQLYSVAEASKNETGGGEGVEVLV
                     NEPYEKDGEKGQYTHKIYHLQSKVPTFVRMLAPEGALNIHEKAWNAYPYCRTVITNEY
                     MKEDFLIKIETWHKPDLGTQENVHKLEPEAWKHVEAVYIDIADRSQVLSKDYKAEEDP
                     AKFKSIKTGRGPLGPNWKQELVNQKDCPYMCAYKLVTVKFKWWGLQNKVENFIHKQER
                     RLFTNFHRQLFCWLDKWVDLTMDDIRRMEEETKRQLDEMRQKDPVKGMTADD"
     exon            253..283
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            284..429
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            430..521
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            522..529
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            530..604
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            605..688
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            689..766
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            767..877
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1000
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1067
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..3888
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1393
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /note="major polyA site"
     regulatory      3599..3604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /note="hexamer: AATAAA"
     polyA_site      3617
                     /gene="PITPNA"
                     /gene_synonym="HEL-S-36; PI-TPalpha; PITPN; VIB1A"
                     /note="major polyA site"
ORIGIN      
        1 gcgcggcgct gcggaaccgg agctccgggc ggcgtcggca gcggcgcgag aggcgacgag
       61 gcccgggcgg caggagccgg cgcggcgacc gcggcgaggg cggcggggac ggagcagagc
      121 acgacgaaga cgcacaggca gccgggccgg gccgggccac ggggagagcg gccggcgggc
      181 agcgggcggg aggccgggcg ggccgcgggc agccaccgag ccgcgaagcg acatggtgct
      241 gctcaaggag tatcgagtaa tcctgcctgt gtctgtagat gagtatcaag tggggcagct
      301 gtattctgtg gctgaggcca gtaaaaatga aacgggtggt ggcgaaggcg tggaggtcct
      361 ggtgaatgag ccctacgaga aggacggtga gaaaggccag tacacacaca agatctacca
      421 cctgcagagc aaagtaccca cgtttgttcg aatgctggcc ccagagggag ccctgaatat
      481 acacgagaaa gcctggaatg cttaccccta ctgcagaacc gttattacaa atgagtacat
      541 gaaagaagac tttctgatta aaattgaaac ctggcacaaa ccagatcttg gcacgcagga
      601 gaatgtgcat aagctggagc ctgaggcgtg gaaacacgtg gaagccgtat atatagacat
      661 tgcagatcga agccaagtgc tcagcaagga ttacaaggca gaggaagacc cagcaaaatt
      721 taaatctatc aaaacaggcc gaggaccctt gggccccaat tggaagcaag agcttgtaaa
      781 ccagaaggac tgcccatata tgtgtgcata caaactggtg accgtcaagt tcaagtggtg
      841 gggcctgcag aacaaagtgg agaacttcat ccataagcaa gagaggcgtc tgtttacaaa
      901 cttccacagg cagctgttct gttggctcga taagtgggtt gacctgacca tggacgacat
      961 tcgaaggatg gaagaagaga cgaagagaca gctggatgaa atgagacaaa aggacccagt
     1021 gaaaggaatg acagcagatg actaaagccg cctttcccct ctgcactttt tgcaagacag
     1081 tggtcaacag gaagacccag cagctccacc ctcccaagtg acaggccatt ttcggacgca
     1141 gccgttctgt gcccattctt caggcaactt tcgattcctt actgtagcta attctagatg
     1201 cccttcagta ttgtgaacaa atagaccgtc tggtgtcaca gagcccgcgt gtgcaggagc
     1261 ctgctcctcc gagatacgtg gcgtgtaggt tgctgtagtt acagcgcctc cgtctctctc
     1321 cattgtgttc cgatccattt ctgtgtgttc ccccaacctt tatttccaag tgacattttc
     1381 agtctttcaa atagctgcct tttgtgatgt ggtgatttaa atgatttaag ttcatttgtt
     1441 ctcaaccttg gggtaaactg aggtattttg cttcctggga agatcttcgc aattttgagt
     1501 gctcctgtgg ggagcgggga tgagctaaag atacaatgtt tccctgcccc gcaccgcttc
     1561 cacaaaatag caatgtggtt ttgcagctct gacttctgct cccagtaacc catcgttagg
     1621 gcactctagc actatggagg tacccaaggc tcagccagtc tctatttaag aaaatttaac
     1681 aaatacgagt aaccctgtcc caatcactga atctctagtt actactctta gaaacacctg
     1741 tggcttcttg gccctcctgt tgcccgctct gaatctctct gcagtctaca aaatcgcccc
     1801 agtcaactct ccacttggag ggaattgtcc agtgtggccc ctagaattga gtcaccccct
     1861 agataccaac tgtctgaccc cgaggagctc tgtaagtccc tgctcctcct cttccctttg
     1921 gggctggtgc tgccactcag caataatcct cttttctctg tgctttctta ggtccctgtc
     1981 ctctgtcttt gaggctggtt aggaagcaag agtcctgatc tttcatgctg cacaatatga
     2041 gcatgcaaaa agctttttcc agcagaacat gttccctcgt ctccagttgc cggaaaggaa
     2101 tttggggatc aagaacttag ctcgtcctac ccccatgttg agttctgccc tggaaaaccc
     2161 aaagcaagta gtgatcatag tacagaaccc gaccaaagta ggctggtgag gaagtccagg
     2221 ctccagggga acagacgctg cccagtgttc atagcttcct gcaacttgac agagcctgag
     2281 tttgcctctt agtgggagaa tgagagagag ctgtagtgtc acctgacatt ccccaaacct
     2341 tgtgaagcac gttggcctaa gtgtgccgtg atcccagccc acactagcct gggtgcatct
     2401 gctaatggga gaccaaatct ttgtccggga agcaagaagt gggtgggaga atgtatcctg
     2461 tttttgtcag tttgtttgcc ttactcattt ctaagtgcaa taagggagtg tctcacagga
     2521 ttgcacctgt gacatcctga tggatgcttc cctgtggccc tcctggggca agggtggaca
     2581 gactcagacc cccagcatgg ttagcgctga ccttcattga ggtccctttg gaaccagatg
     2641 tcttgttaca gacaccttcc tctgtgtaag tctcctcacc ttgaggggtc tttagtaatg
     2701 catctgggta gcatctcaac tgctggtagc atttatctga cttggaaagt tggagaagag
     2761 gcattcctac tggagaaaaa tgtcagtgtt ttcctataag ctctgtgtta gctattcatt
     2821 atatttgtgc ttaaagatgt tccttcattc atcaactagg ggaagtccag atgcgggtta
     2881 tcttgaaaga aacaaactga cattctaggc agacagttgt ctatgtggtc tgagggtcag
     2941 cagctgttag tctccttcct ttggctcttg agacccacac atatcacttt agccctaaca
     3001 agggctcctc ccacctccac ctgttgcccc agttgaaaag catccattat gagctgaggt
     3061 cagcctggat ctggaattgc agcccacata aacataaagg aggatgtccc tggtctgttc
     3121 catccccacg gatggtgttg ctgctgggca acagtgttgg cttcttttaa gtaccccctt
     3181 tcctcctcac ccacctccaa actgactagc actcagaggg acttatgata aaggttcagc
     3241 tccaggggta gtacctgagt gtgtgccatg ccccttcaga ccagctgctt ccatcagaat
     3301 tccagggtca cagccccaac agaagcagca gtgcctctgt aggaggggtg ctgggctctg
     3361 gccttctcat gcagagaggt ccgggacagg gtcagtatcg tgggcatgtg tatagcttcc
     3421 caagttcttt tacagtccct gctgggactc cctgacttac tttggttggt tcctagtgct
     3481 acttgtttta caaactacac tttgtagaat tgattagatt accttgttta tttaatgtga
     3541 gtttgtgcct ttttgtctca atcttccaat acaggtatat tgagaaaaaa agcagtctaa
     3601 taaaatccta gacagaactt tctggagtcc agtttggtga tgtccatttt ccagctgtat
     3661 gtatcctcaa acttgcactg ataaccgcca ttttaccagg gcaggattag gaagaggtac
     3721 aaaggtgtgt ctgaaaattt ttgcacgtgg atttctgcat ataatagtcc cgtgtcagtt
     3781 tacttatgca aacattgcac atctgaattg taattcggcc gtttcctact gacaggatgt
     3841 ccttttgctt ttgtctgcct cctcttcaca tcttcctctt tatccacc
//
