LOCUS       NM_021213               1972 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens phosphatidylcholine transfer protein (PCTP),
            transcript variant 1, mRNA.
ACCESSION   NM_021213
VERSION     NM_021213.4
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 1972)
  AUTHORS   Abraham,S., Ma,L., Kong,X., Askari,S., Edelstein,L.C. and
            McKenzie,S.E.
  TITLE     PCTP contributes to human platelet activation by enhancing dense
            granule secretion
  JOURNAL   Thromb Res 202, 67-73 (2021)
   PUBMED   33770537
  REMARK    GeneRIF: PCTP contributes to human platelet activation by enhancing
            dense granule secretion.
REFERENCE   2  (bases 1 to 1972)
  AUTHORS   Kong,X., Simon,L.M., Holinstat,M., Shaw,C.A., Bray,P.F. and
            Edelstein,L.C.
  TITLE     Identification of a functional genetic variant driving racially
            dimorphic platelet gene expression of the thrombin receptor
            regulator, PCTP
  JOURNAL   Thromb Haemost 117 (5), 962-970 (2017)
   PUBMED   28251237
  REMARK    GeneRIF: Identified the variant rs2912553 as contributing to
            racially differential expression of PCTP.
REFERENCE   3  (bases 1 to 1972)
  AUTHORS   Hunter,S.M., Rowley,S.M., Clouston,D., Li,J., Lupat,R.,
            Krishnananthan,N., Risbridger,G., Taylor,R., Bolton,D.,
            Campbell,I.G. and Thorne,H.
  CONSRTM   KCon Fab Investigators
  TITLE     Searching for candidate genes in familial BRCAX mutation carriers
            with prostate cancer
  JOURNAL   Urol Oncol 34 (3), 120 (2016)
   PUBMED   26585945
  REMARK    GeneRIF: Mutations in PCTP gene is associated with prostate cancer
REFERENCE   4  (bases 1 to 1972)
  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   5  (bases 1 to 1972)
  AUTHORS   Kang,H.W., Ribich,S., Kim,B.W., Hagen,S.J., Bianco,A.C. and
            Cohen,D.E.
  TITLE     Mice lacking Pctp /StarD2 exhibit increased adaptive thermogenesis
            and enlarged mitochondria in brown adipose tissue
  JOURNAL   J Lipid Res 50 (11), 2212-2221 (2009)
   PUBMED   19502644
REFERENCE   6  (bases 1 to 1972)
  AUTHORS   Kanno,K., Wu,M.K., Agate,D.S., Fanelli,B.J., Wagle,N., Scapa,E.F.,
            Ukomadu,C. and Cohen,D.E.
  TITLE     Interacting proteins dictate function of the minimal START domain
            phosphatidylcholine transfer protein/StarD2
  JOURNAL   J Biol Chem 282 (42), 30728-30736 (2007)
   PUBMED   17704541
  REMARK    GeneRIF: Yeast two-hybrid screening using libraries prepared from
            mouse liver and embryo identified Them2 (thioesterase superfamily
            member 2) and the homeodomain transcription factor Pax3 (paired box
            gene 3), respectively, as PC-TP-interacting proteins.
REFERENCE   7  (bases 1 to 1972)
  AUTHORS   Roderick,S.L., Chan,W.W., Agate,D.S., Olsen,L.R., Vetting,M.W.,
            Rajashankar,K.R. and Cohen,D.E.
  TITLE     Structure of human phosphatidylcholine transfer protein in complex
            with its ligand
  JOURNAL   Nat Struct Biol 9 (7), 507-511 (2002)
   PUBMED   12055623
  REMARK    GeneRIF: crystal structures of human PC-TP in complex with
            dilinoleoyl-PtdCho or palmitoyl-linoleoyl-PtdCho reveal that a
            single well-ordered PtdCho molecule occupies a centrally located
            tunnel
REFERENCE   8  (bases 1 to 1972)
  AUTHORS   Chan,W.W., Roderick,S.L. and Cohen,D.E.
  TITLE     Human phosphatidylcholine transfer protein: purification,
            crystallization and preliminary X-ray diffraction data
  JOURNAL   Biochim Biophys Acta 1596 (1), 1-5 (2002)
   PUBMED   11983415
REFERENCE   9  (bases 1 to 1972)
  AUTHORS   Cohen,D.E., Green,R.M., Wu,M.K. and Beier,D.R.
  TITLE     Cloning, tissue-specific expression, gene structure and chromosomal
            localization of human phosphatidylcholine transfer protein
  JOURNAL   Biochim Biophys Acta 1447 (2-3), 265-270 (1999)
   PUBMED   10542325
REFERENCE   10 (bases 1 to 1972)
  AUTHORS   van Helvoort,A., de Brouwer,A., Ottenhoff,R., Brouwers,J.F.,
            Wijnholds,J., Beijnen,J.H., Rijneveld,A., van der Poll,T., van der
            Valk,M.A., Majoor,D., Voorhout,W., Wirtz,K.W., Elferink,R.P. and
            Borst,P.
  TITLE     Mice without phosphatidylcholine transfer protein have no defects
            in the secretion of phosphatidylcholine into bile or into lung
            airspaces
  JOURNAL   Proc Natl Acad Sci U S A 96 (20), 11501-11506 (1999)
   PUBMED   10500206
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BM153142.1, BC012084.1, AC009837.13, AC091155.5 and BX648199.1.
            
            On May 17, 2019 this sequence version replaced NM_021213.3.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: BC012084.1, AK024667.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000268896.10/ ENSP00000268896.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-10                BM153142.1         73-82
            11-535              BC012084.1         1-525
            536-564             AC009837.13        165289-165317
            565-632             AC009837.13        166214-166281
            633-1685            AC009837.13        167457-168509
            1686-1961           AC091155.5         37439-37714         c
            1962-1972           BX648199.1         3909-3919
FEATURES             Location/Qualifiers
     source          1..1972
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q22"
     gene            1..1972
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /note="phosphatidylcholine transfer protein"
                     /db_xref="GeneID:58488"
                     /db_xref="HGNC:HGNC:8752"
                     /db_xref="MIM:606055"
     exon            1..194
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             54..698
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     StAR-related lipid transfer (START) domain containing 2;
                     START domain-containing protein 2; stAR-related lipid
                     transfer protein 2"
                     /codon_start=1
                     /product="phosphatidylcholine transfer protein isoform 1"
                     /protein_id="NP_067036.2"
                     /db_xref="CCDS:CCDS11588.1"
                     /db_xref="GeneID:58488"
                     /db_xref="HGNC:HGNC:8752"
                     /db_xref="MIM:606055"
                     /translation="MELAAGSFSEEQFWEACAELQQPALAGADWQLLVETSGISIYRL
                     LDKKTGLYEYKVFGVLEDCSPTLLADIYMDSDYRKQWDQYVKELYEQECNGETVVYWE
                     VKYPFPMSNRDYVYLRQRRDLDMEGRKIHVILARSTSMPQLGERSGVIRVKQYKQSLA
                     IESDGKKGSKVFMYYFDNPGGQIPSWLINWAAKNGVPNFLKDMARACQNYLKKT"
     exon            195..312
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /inference="alignment:Splign:2.1.0"
     exon            313..392
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /inference="alignment:Splign:2.1.0"
     exon            393..564
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /inference="alignment:Splign:2.1.0"
     exon            565..632
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /inference="alignment:Splign:2.1.0"
     exon            633..1972
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1951..1956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /note="hexamer: AATAAA"
     polyA_site      1972
                     /gene="PCTP"
                     /gene_synonym="PC-TP; STARD2"
                     /note="major polyA site"
ORIGIN      
        1 ctaagggtgt ccgcggcctg ccctccaggc ggaggagccc ggactgcgga aggatggagc
       61 tggccgccgg aagcttctcg gaggagcagt tctgggaggc ctgcgccgag ctccagcagc
      121 ccgctctggc cggggccgac tggcagctcc tagtggagac ctcgggcatc agcatctacc
      181 ggctgctgga caagaagact ggactttatg agtataaagt ctttggtgtt ctggaggact
      241 gctcaccaac tctactggca gacatctata tggactcaga ttacagaaaa caatgggacc
      301 agtatgttaa agaactctat gaacaagaat gcaacggaga gactgtggtc tactgggaag
      361 tgaagtaccc ttttcccatg tccaacagag actatgtcta ccttcggcag cggcgagacc
      421 tggacatgga agggaggaag atccatgtga tcctggcccg gagcacctcc atgcctcagc
      481 ttggcgagag gtctggggtg atccgggtga agcaatacaa gcagagcctg gcgatcgaga
      541 gtgacggcaa gaaggggagc aaagttttca tgtattactt cgataacccg ggtggccaaa
      601 ttccgtcctg gctcattaac tgggccgcca agaatggagt tcctaacttc ttgaaagaca
      661 tggcaagagc ctgtcagaac tacctcaaga aaacctaaga aagagaactg ggaacattgc
      721 atccatgggt tgatgtctct ggaagtgcaa ccacccaatg tctctggaag tgccacctgg
      781 aagtgccacc tggaagtgtc tctggaagag cacccaccac tgttcagcct tcccctgctg
      841 tttctgtctt cagaggccta cacactacca catcctttct aagcatgttt gcctgacatc
      901 cagctcactc gtctgcttcc tttctcgctc cccccatcct gggctgggct gccttcttct
      961 acagttcaat atggggcaga ctagggaaac ctttgcttgc ttactattag gaggggaagt
     1021 cttcagtagg gaacacgatc attccattgt gcaattttac ggggatgggt gggcggaggg
     1081 acacaacaaa atttaagaat gactatttgg gcgggctggc tcttttgcag cttgtgattt
     1141 cttccagctt gggaggggct gctggaagtg gcatttcgtt cagagctgac tttcagtgca
     1201 cccaaactgg atgacgtgcc aatgtccatt tgccttatgc tttgtggagc tgattaggct
     1261 gggatttgag gtgataatcc agtaagtctt tcctcgttcc tacttgtgga ggatcagtag
     1321 ctgttatgat gccagaccat ttggagaagt atcagaggcc tgaccggaca cataatatga
     1381 caaccacatt tttcctcatc atccatgagg aaatggatga tttctctttt ccatatgtca
     1441 ctgggggaaa ggctgcctgt acctctcaag ctttgcattt tactggaaac tgaggcgtca
     1501 agatggctgt ggcagctagc aaaagcaaag atgctttgtg catagccttg tgaaaaagta
     1561 tctttctatg caataagatg aattttcctc ccagaatatt tagaaatgta gaagggataa
     1621 cagttcacag ccaggtaaaa tttaactggt ggcttaatga ctctgcacct ttttctcagg
     1681 aattctgcct aagttgtctg ccttttctac caccaaaaag acttttagtt ttctatgctt
     1741 tctcctgaat tttggtaggg taaggtattt ctatgtcaaa ggcacagcct tgatgatctc
     1801 agggaaaaat tttaatcact gtgtataatg atactgaacc ttgattaata acagaaattc
     1861 aggatgtaaa gccacagaat gggatttatt aatgtgggat acctcagact gtttgttttc
     1921 tttctgggaa gaaaagtgtg ttctataatg aataaatata gagtggtttt ta
//
