LOCUS       NM_012399               2914 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens phosphatidylinositol transfer protein beta (PITPNB),
            transcript variant sp1, mRNA.
ACCESSION   NM_012399
VERSION     NM_012399.5
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 2914)
  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   2  (bases 1 to 2914)
  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   3  (bases 1 to 2914)
  AUTHORS   Carvou,N., Holic,R., Li,M., Futter,C., Skippen,A. and Cockcroft,S.
  TITLE     Phosphatidylinositol- and phosphatidylcholine-transfer activity of
            PITPbeta is essential for COPI-mediated retrograde transport from
            the Golgi to the endoplasmic reticulum
  JOURNAL   J Cell Sci 123 (Pt 8), 1262-1273 (2010)
   PUBMED   20332109
  REMARK    GeneRIF: Phosphatidylinositol and phosphatidylcholine exchange
            activity of PITPbeta is essential for COPI-mediated retrograde
            transport from the Golgi to the endoplasmic reticulum.
REFERENCE   4  (bases 1 to 2914)
  AUTHORS   Kim,W.K., Cho,H.J., Ryu,S.I., Hwang,H.R., Kim,D.H., Ryu,H.Y.,
            Chung,J.W., Kim,T.Y., Park,B.C., Bae,K.H., Ko,Y. and Lee,S.C.
  TITLE     Comparative proteomic analysis of peripheral blood mononuclear
            cells from atopic dermatitis patients and healthy donors
  JOURNAL   BMB Rep 41 (8), 597-603 (2008)
   PUBMED   18755076
REFERENCE   5  (bases 1 to 2914)
  AUTHORS   Morgan,C.P., Allen-Baume,V., Radulovic,M., Li,M., Skippen,A. and
            Cockcroft,S.
  TITLE     Differential expression of a C-terminal splice variant of
            phosphatidylinositol transfer protein beta lacking the
            constitutive-phosphorylated Ser262 that localizes to the Golgi
            compartment
  JOURNAL   Biochem J 398 (3), 411-421 (2006)
   PUBMED   16780419
  REMARK    GeneRIF: The presence of PITPbeta splice variants adds an extra
            level of proteome complexity
REFERENCE   6  (bases 1 to 2914)
  AUTHORS   Segui,B., Allen-Baume,V. and Cockcroft,S.
  TITLE     Phosphatidylinositol transfer protein beta displays minimal
            sphingomyelin transfer activity and is not required for
            biosynthesis and trafficking of sphingomyelin
  JOURNAL   Biochem J 366 (Pt 1), 23-34 (2002)
   PUBMED   12023904
  REMARK    GeneRIF: Role of PITPNB- not required for sphingomyelin trafficking
REFERENCE   7  (bases 1 to 2914)
  AUTHORS   Yoder,M.D., Thomas,L.M., Tremblay,J.M., Oliver,R.L., Yarbrough,L.R.
            and Helmkamp,G.M. Jr.
  TITLE     Structure of a multifunctional protein. Mammalian
            phosphatidylinositol transfer protein complexed with
            phosphatidylcholine
  JOURNAL   J Biol Chem 276 (12), 9246-9252 (2001)
   PUBMED   11104777
REFERENCE   8  (bases 1 to 2914)
  AUTHORS   Fullwood,Y., dos Santos,M. and Hsuan,J.J.
  TITLE     Cloning and characterization of a novel human phosphatidylinositol
            transfer protein, rdgBbeta
  JOURNAL   J Biol Chem 274 (44), 31553-31558 (1999)
   PUBMED   10531358
REFERENCE   9  (bases 1 to 2914)
  AUTHORS   Tanaka,S., Yamashita,S. and Hosaka,K.
  TITLE     Cloning and expression of human cDNA encoding phosphatidylinositol
            transfer protein beta
  JOURNAL   Biochim Biophys Acta 1259 (3), 199-202 (1995)
   PUBMED   8541325
REFERENCE   10 (bases 1 to 2914)
  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 HY176246.1, BC018704.1 and
            BQ774593.1.
            
            On May 17, 2019 this sequence version replaced NM_012399.4.
            
            Summary: This gene encodes a cytoplasmic protein that catalyzes the
            transfer of phosphatidylinositol and phosphatidylcholine between
            membranes. This transfer activity is required for COPI
            complex-mediated retrograde transport from the Golgi apparatus to
            the endoplasmic reticulum. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Sep
            2013].
            
            Transcript Variant: This variant (sp1) encodes the shortest 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 :: SRR3476690.471563.1,
                                           SRR7346977.1118410.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000335272.10/ ENSP00000334738.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                HY176246.1         51-76
            27-2911             BC018704.1         1-2885
            2912-2914           BQ774593.1         18-20               c
FEATURES             Location/Qualifiers
     source          1..2914
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.1"
     gene            1..2914
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="phosphatidylinositol transfer protein beta"
                     /db_xref="GeneID:23760"
                     /db_xref="HGNC:HGNC:9002"
                     /db_xref="MIM:606876"
     exon            1..85
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             66..881
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="isoform 1 is encoded by transcript variant sp1;
                     phosphotidylinositol transfer protein, beta; PtdIns
                     transfer protein beta"
                     /codon_start=1
                     /product="phosphatidylinositol transfer protein beta
                     isoform isoform 1"
                     /protein_id="NP_036531.1"
                     /db_xref="CCDS:CCDS13842.1"
                     /db_xref="GeneID:23760"
                     /db_xref="HGNC:HGNC:9002"
                     /db_xref="MIM:606876"
                     /translation="MVLIKEFRVVLPCSVQEYQVGQLYSVAEASKNETGGGEGIEVLK
                     NEPYEKDGEKGQYTHKIYHLKSKVPAFVRMIAPEGSLVFHEKAWNAYPYCRTIVTNEY
                     MKDDFFIKIETWHKPDLGTLENVHGLDPNTWKTVEIVHIDIADRSQVEPADYKADEDP
                     ALFQSVKTKRGPLGPNWKKELANSPDCPQMCAYKLVTIKFKWWGLQSKVENFIQKQEK
                     RIFTNFHRQLFCWIDKWIDLTMEDIRRMEDETQKELETMRKRGSVRGTSAADV"
     exon            86..116
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            117..262
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            263..354
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            355..362
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            363..437
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            438..521
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            522..599
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            600..710
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            711..833
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            834..919
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     exon            920..2914
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2891..2896
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="hexamer: AATAAA"
     polyA_site      2914
                     /gene="PITPNB"
                     /gene_synonym="PI-TP-beta; PtdInsTP; VIB1B"
                     /note="major polyA site"
ORIGIN      
        1 gtgagaggcg gtagcggcgg cggcggcggt ggtatcggcg gcagctgtga gggggttccg
       61 ggaagatggt gctgatcaag gaattccgtg tggttttgcc atgttctgtt caggagtatc
      121 aggttgggca gctttactct gttgcagaag ctagtaagaa tgagactggt ggtggagaag
      181 gaattgaagt cttaaagaat gaaccttatg agaaggatgg agaaaaggga cagtatacgc
      241 acaaaattta tcacctaaag agcaaagtgc ctgcattcgt gaggatgatt gctcccgagg
      301 gctccttggt gtttcatgag aaagcctgga atgcgtaccc ctactgtaga acaattgtaa
      361 cgaatgaata tatgaaagat gatttcttca ttaaaatcga aacatggcac aaaccagact
      421 tgggaacatt agaaaatgta catggtttag atccaaacac atggaaaact gttgaaattg
      481 tccatataga tattgcagat agaagtcaag ttgaaccagc agactacaaa gctgatgaag
      541 acccagcatt attccagtca gtcaagacca agagaggccc tttgggaccc aactggaaga
      601 aggagctggc aaacagccct gactgtcccc agatgtgtgc ctataagctg gtgaccatca
      661 aattcaagtg gtggggactg caaagcaaag tagaaaactt cattcaaaag caagaaaaac
      721 ggatatttac aaacttccat cgccagcttt tttgttggat tgacaagtgg atcgatctca
      781 cgatggaaga cattaggaga atggaagacg agactcagaa agaactagaa acaatgcgta
      841 agaggggttc cgttcgaggc acgtcggctg ctgatgtcta gatgagtccc ctgtagggtc
      901 agagacaatg tcaaactgtt tacgtaatca aggtcaagtg aggggaacaa gcgcagccag
      961 tgatgagtga agaagaatct gaccagtatc ttgcagtgtt gacgtttccc agatgtgtgc
     1021 ttgtgatgat acacacacat gcacaggttc tcaaccacgt gtgtatatat gtatgtgtgc
     1081 atatgtctgt agctgtatat aaagcgcatg tagagctaca gatccagata cacacacttg
     1141 tgtatatatg tacatacaga catactgaag ggattagtac aatttctcca aagtactgta
     1201 cctatcttca gcaagaatgc aaaagaaaat attttcaata tatatacctg gaacagattt
     1261 taataattat cagagtaata ccattaatgg acaaattgac tgcaatgtaa tactagctgg
     1321 tatgtttcat aaatgtcaag ctgtggacca acatatatag ccttttatta tttttctctt
     1381 cttttaagtc agtctgttat aaattttttt ttagtcccat aagcagtaga ctcccacaga
     1441 aaatttcttc aaaatttttt ggtgttccaa tgaatctggg atgtaaactc tgaatgtatt
     1501 tataactatt tatttctgga tggtcattat cttgtagcca aatttgacaa tataaagtaa
     1561 ggagcaaagt tacaggccag tttttacttg tttgccctga gggaaaaatc cttttaaaaa
     1621 aaatttctgg tttttattgg atttttgtat tttaaatttc aaatattttt ctacatcaaa
     1681 cctagcaaaa atggagatga cggtttctga tttataataa atactagaca gttttcaggc
     1741 tcctgttaga caaacacatt gatgaagaaa ttagtcttaa taggattgta ggctgtgtag
     1801 aaaagttgga aatatagcac ttcatggagt cttgttttga agatgacagt tttctgtaac
     1861 tacagcttgg aaactatgca aatggtctag attcctcaga gctcacatga taggatatag
     1921 ttagtgatga cattttgctc ttcttgtggg aacacacact tcaaggagga gatagtgact
     1981 ttgagatagg aacagtttaa gatgcagtgt gagtctggcc tgcgtgcggt gaggaggccc
     2041 cgccaagaga ctggtggaca tctgactgtg ggatgtgctc tcaagtagga cgtcatcagg
     2101 acagattctg aataggcatc atgagagtgc tggtcagaaa cggctgccac tttttttaat
     2161 ttaattttat tttttattta aaggaaggaa caatagctag gtaagatttt tatcagcttt
     2221 ctctgtctga atccagtttt tcctctgtca gtcctggaag cttgaataga attatattgt
     2281 tgaagccttc aggtcacaaa ctgtcttttg taacctcctg tccctcctaa aacacgccaa
     2341 cccctgcagt caaatcacat tagtaatctg atttgctgac agtcctgccc tgcctgctcc
     2401 tcgttttccc acatgtcctg catccctccc ccactggagt gatttcagtg aatcagacaa
     2461 ggaaggatgt gtaggatcac tactgcattg caataccctg ttatcctcag caacaaaacc
     2521 cacatttcat acatcctttg tgtactcagg ataaagactg atgtttactc tctgggcact
     2581 gttgtaagat aggttttgtc agagcataat cattgtctgc aaagtgtttg gtgcgaggaa
     2641 gattattgct aattttgtga aataaagagt ctagccctct ccttttaatg aacttaactc
     2701 tcgctggcat ctgtagtatc attgggagct taggcgcaca tggaaatgag agcccggcgc
     2761 atggatttta atgtttttct aacaactgtg gagatttgag ggaatgtgtg gtgaatgtaa
     2821 aatacctagt ttacttgcca gtctcttgtg taaattacag taaaacaaag taaatgaaat
     2881 ttaaacaaaa aataaatttg atcacaaaat gcca
//
