LOCUS       NM_001203246            4386 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript
            variant 4, mRNA.
ACCESSION   NM_001203246
VERSION     NM_001203246.2
KEYWORDS    RefSeq.
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 4386)
  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 4386)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4386)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   4  (bases 1 to 4386)
  AUTHORS   Yu,X., Noll,R.R., Romero Duenas,B.P., Allgood,S.C., Barker,K.,
            Caplan,J.L., Machner,M.P., LaBaer,J., Qiu,J. and Neunuebel,M.R.
  TITLE     Legionella effector AnkX interacts with host nuclear protein
            PLEKHN1
  JOURNAL   BMC Microbiol 18 (1), 5 (2018)
   PUBMED   29433439
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4386)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   6  (bases 1 to 4386)
  AUTHORS   Szafranski,K., Schindler,S., Taudien,S., Hiller,M., Huse,K.,
            Jahn,N., Schreiber,S., Backofen,R. and Platzer,M.
  TITLE     Violating the splicing rules: TG dinucleotides function as
            alternative 3' splice sites in U2-dependent introns
  JOURNAL   Genome Biol 8 (8), R154 (2007)
   PUBMED   17672918
  REMARK    GeneRIF: occurrence of an unusual TG 3' splice site in intron 9
REFERENCE   7  (bases 1 to 4386)
  AUTHORS   Hsu,L.C., Liu,S., Abedinpour,F., Beech,R.D., Lahti,J.M., Kidd,V.J.,
            Greenspan,J.A. and Yeung,C.Y.
  TITLE     The murine G+C-rich promoter binding protein mGPBP is required for
            promoter-specific transcription
  JOURNAL   Mol Cell Biol 23 (23), 8773-8785 (2003)
   PUBMED   14612417
REFERENCE   8  (bases 1 to 4386)
  AUTHORS   Bijnens,A.P., Gils,A., Jutten,B., Faber,B.C., Heeneman,S.,
            Kitslaar,P.J., Tordoir,J.H., de Vries,C.J., Kroon,A.A., Daemen,M.J.
            and Cleutjens,K.B.
  TITLE     Vasculin, a novel vascular protein differentially expressed in
            human atherogenesis
  JOURNAL   Blood 102 (8), 2803-2810 (2003)
   PUBMED   12842993
  REMARK    GeneRIF: Vasculin is a novel vascular protein differentially
            expressed in human atherogenesis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK311625.1, AL161991.1,
            CD657101.1, CN358821.1, AI200911.1, AC008435.6, BU682723.1 and
            BQ023353.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001203246.1.
            
            Summary: This gene was originally isolated by subtractive
            hybridization of cDNAs expressed in atherosclerotic plaques with a
            thrombus, and was found to be expressed only in vascular smooth
            muscle cells. However, a shorter splice variant was found to be
            more ubiquitously expressed. This protein is suggested to play a
            role in the development of atherosclerosis. Studies in mice suggest
            that it may also function as a GC-rich promoter-specific
            trans-activating transcription factor. Several alternatively
            spliced transcript variants encoding different isoforms have been
            described for this gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (4) is missing an exon in the 5'
            region compared to variant 1. This results in translation
            initiation from an in-frame downstream AUG, and a much shorter
            isoform (4, also known as SSH6-beta) compared to isoform 1. This
            isoform has been reported to be more ubiquitously expressed
            compared to the vascular wall specific expression pattern of the
            longer isoforms (PMID:12842993).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL161991.1, SRR18074969.796062.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-796               AK311625.1         112-907
            797-1216            AL161991.1         807-1226
            1217-1521           CD657101.1         37-341
            1522-2834           AL161991.1         1532-2844
            2835-3476           CN358821.1         130-771
            3477-3711           AI200911.1         5-239               c
            3712-3741           AC008435.6         34996-35025         c
            3742-4384           BU682723.1         18-660              c
            4385-4386           BQ023353.1         24-25               c
FEATURES             Location/Qualifiers
     source          1..4386
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q11.2"
     gene            1..4386
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="GC-rich promoter binding protein 1"
                     /db_xref="GeneID:65056"
                     /db_xref="HGNC:HGNC:29520"
                     /db_xref="MIM:608412"
     exon            1..153
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            154..1106
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1107..1230
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1231..1454
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1455..1521
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1706
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     CDS             1557..2465
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="isoform 4 is encoded by transcript variant 4;
                     vascular wall-linked protein"
                     /codon_start=1
                     /product="vasculin isoform 4"
                     /protein_id="NP_001190175.1"
                     /db_xref="CCDS:CCDS56368.1"
                     /db_xref="GeneID:65056"
                     /db_xref="HGNC:HGNC:29520"
                     /db_xref="MIM:608412"
                     /translation="MLVIKKGNTKDLQLSGFPVVGNLPSQPVKNGTGPSVYKGLVPKP
                     AAPPTKPTQWKSQTKENKVGTSFPHESTFGVGNFNAFKSTAKNFSPSTNSVKECNRSN
                     SSSPVDKLNQQPRLTKLTRMRTDKKSEFLKALKRDRVEEEHEDESRAGSEKDDDSFNL
                     HNSNSTHQERDINRNFDENEIPQENGNASVISQQIIRSSTFPQTDVLSSSLEAEHRLL
                     KEMGWQEDSENDETCAPLTEDEMREFQVISEQLQKNGLRKNGILKNGLICDFKFGPWK
                     NSTFKPTTENDDTETSSSDTSDDDDV"
     exon            1707..1847
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            1848..2015
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            2016..2203
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            2204..2306
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     exon            2307..4386
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2771..2776
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="hexamer: AATAAA"
     polyA_site      2798
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="major polyA site"
     regulatory      3279..3284
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="hexamer: AATAAA"
     polyA_site      3298
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="major polyA site"
     regulatory      3481..3486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="hexamer: AATGAA"
     polyA_site      3504
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
     polyA_site      3711
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
     regulatory      4367..4372
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
                     /note="hexamer: TATAAA"
     polyA_site      4386
                     /gene="GPBP1"
                     /gene_synonym="GPBP; SSH6; VASCULIN"
ORIGIN      
        1 attgcggatc gggtcggcgc cattttggga ctgagactgg ttgtggggga gggaaaagcg
       61 gcaaaagggg attattcaaa gtaccgaaaa ccttctcccg ggatcaggcg cggcggcacc
      121 cccaggccag gggcacctct ggtggggcag aaggtgattg aattactcag atatgaagat
      181 catcatctag gttttgtgta aaaggccctg gatattttaa gtggccattt tggatttaca
      241 gtgtttttgg ataattttgc cccagaagtt tattaaaatt ggcaagaatc gtctgtgaag
      301 tgaattgata gtagtgaaca attcagcaag ctacttaaaa agagacccag gcagcatttc
      361 ttcagtattt tggttcaaac ggattatata actggttaca gtatttcagc tggtggtaat
      421 ttttgcctcc ccttccccca ccccgttgtt ggggttcttc agccgaaact gagagacgtt
      481 gatttgtgta ctgagtagtt tcagcagttt caaatgactg agtattgctg aagtttcatg
      541 gcagtttatt tttaccttta ttgaaagttt taggaatttt tgacttcagc tctttcatgt
      601 cacaatggga cactttttct gaatgaagag attgaaagaa tacagagttt ttttcctttt
      661 atcttttatt tacgtggaaa tttaagatgt tgcagttttc cggcagcatg gtagtattga
      721 gatagctatg tgtgtctctg tatatgctga tgtttaggaa tgctcttcag atgtgaaatt
      781 ttctttttgt ttttgctttt tggctcgtaa attggatatt tcatctggag tggacaagta
      841 caacagtggc aagtacatgg aataataaag aagactttga tcttaaatct aaagaacttg
      901 gctaattcgg gagatagcca tatgaaaact ttaaaacaga agtatgggta gctgacttga
      961 agtaactcta tgtcaaatag tcgtaggtta agtatcttca aagaacttcg atattatttc
     1021 agaggataca aaataaaaat acaaactgga aaataaagat tacagagaaa aaaccaacac
     1081 cttcctgtgc agtcctgttg gaattttcgt cattgaattt tgagaagcat tctgaaaact
     1141 ttgcatggac agagaatcgt tatgatgtga accgtcgacg acacaactct tcagatggct
     1201 ttgattctgc tattgggcgt cctaatggag gtaactttgg aaggaaagaa aaaaatggat
     1261 ggcgtacaca tggaagaaat ggtacagaaa acataaatca tcgaggtgga taccatggtg
     1321 gaagttcccg ttctcgtagc agtattttcc atgcaggaaa aagccaagga ctacatgaaa
     1381 acaacatacc tgacaatgaa accgggagga aagaagacaa gagagaacgc aaacagtttg
     1441 aagctgagga ttttccgtct ttaaatcctg agtatgagag agaaccaaat cacaataagt
     1501 ctttagctgc aggtgtgtgg gaatatcctc cgaatcctaa atctagagct ccaaggatgc
     1561 tggtcattaa gaaaggtaat acaaaagact tacagctatc tggattccca gtagtaggaa
     1621 atcttccgtc acagccagtt aagaatggaa ctggtccaag tgtttataaa ggtttagtcc
     1681 ctaaacctgc tgctccacct acaaaaccta cacaatggaa aagccaaaca aaagaaaata
     1741 aagttggaac ttctttccct catgagtcca catttggcgt tggcaacttt aatgctttta
     1801 aatcaactgc caagaacttt agtccatcta caaattcagt gaaagagtgt aatcgctcaa
     1861 attcctcttc tcctgttgac aaacttaatc agcagcctcg tctaaccaaa ctgacacgaa
     1921 tgcgcactga taagaagagt gaatttttga aagcattgaa aagagacaga gtagaagagg
     1981 aacatgaaga tgaaagccgt gctggctcag agaaggatga cgactcattt aatttacata
     2041 acagcaatag tactcaccaa gaaagggata taaaccgaaa cttcgatgaa aatgaaattc
     2101 ctcaagagaa tggcaatgcc tcagtgattt cccagcagat cattcggtct tcaaccttcc
     2161 cacaaactga tgttctttca agttcacttg aggcagaaca cagattgtta aaggaaatgg
     2221 gctggcagga agacagtgaa aatgatgaaa catgtgctcc cttaactgag gatgaaatga
     2281 gagaattcca agttattagt gaacagttac agaagaatgg tctgagaaaa aatggtattt
     2341 tgaaaaatgg cttgatctgt gacttcaagt ttggaccgtg gaagaacagc actttcaaac
     2401 ccacaactga gaatgatgac acagagacaa gtagcagtga tacatcagat gacgacgatg
     2461 tgtgaaggat ttcctaacag ctttagaaat cttagtgtga tacatctctc atacagtttg
     2521 gggtgaattg taaaaatgaa gaactataat ttatgtagtg aaatacccca ttagaagagg
     2581 attttttggg ggacttcaat atgaagaaaa ccaagaatgt tttgttgggc tgtgttgaac
     2641 attatttctt tgtaaatgaa tgttgtagga atgaggactt gggttggtcc aacattgact
     2701 ttcttcatca ctgcaacatt tctctgacta gcaatgtgac gatgtaacaa atgagatttt
     2761 ctcatttaat aataaaaaat tgtgtaatgt tttgcaaagc ttctgtctta aaatgtccag
     2821 gtcttaagaa aaaaggcagc ttacactgtt ttgcttgcag agtcatatct ttttcgtaca
     2881 atggaaatcc tcaagtccac tttgtgcggt ctccctctcc ttcccccaaa aaacaacaac
     2941 aacaaaacaa aaaccaaaaa ggaaaatgta gcatgttggc taaaactgga gcaaagtgca
     3001 ctaaaacaat ttcctgaact cacctgttgt actattcacc ttttaaacca taaattgctc
     3061 tttagccatt tgtagtgcag taaatgttac aggaaaagac ttggcacatt ttcttccaaa
     3121 ttttaagagg tgattttcaa aagctttatt ggggtatgtt gtcagaccag ggttttcaga
     3181 gttgatggaa aagagtcttg tgagaaaact tattttgata aattattaca cacgcagaaa
     3241 aactgatcac actgactgga tctgtccacg acatggaaaa taaactggat tttcagaata
     3301 ttgttgtttt ctgtagtgtt caaggtattg tttctaaaca taaacatact ctaaacatgc
     3361 tttattcact tgttaaagtc atacttttaa aagtaatacc ttactaaaga tggtgattac
     3421 ttttccgagg tcagaaaagg aaagctaagc gttttcatta tcaaatacac aagcttatta
     3481 aatgaatgac tgttaactac tttattttca tttgcacatt aattttggaa ttgtttctgt
     3541 tttgctgctg acggaaatac tattttggct ctgtgtatat ttgtattttg atttttctgg
     3601 tttgtttacc cccatttgct tttagctccc ccttatgttt aaatatattc taacttatgt
     3661 aaagagcata atcttagagc aaaaatactt gaggttttat gtcagatcta atcttaagtg
     3721 tttgttgttt tttaaaaagt gttttctcag atggctgcag tgtttttgct atttctgcat
     3781 aaatacccta cctggactcc ccagttttca ccagaaactg ttattttttt ttgttgttgt
     3841 tcccactgag actgatggtg atggggaaat taaaaacaac acactagcac actcccacaa
     3901 aacttgagga agagttagaa tggtaataaa atattaaata gaccttatac ttaaaataag
     3961 gtttcactat ataatttgtc acaattcaat ctaatcagct aaagttaaat gtagttagaa
     4021 ttagccacag gagaatgtaa agcatgcttt gacgaagcta tcggtaacac atattgaatg
     4081 tctttgagac tcttagattg tactatttgc ttaatagatt aatgaaattt atcagataca
     4141 acctgtattt ccaaaaacaa gctagaagga acctgaggaa tgtggtttac atttgagatc
     4201 caccttactg tgttttctac tttcagaaaa gattctgtag ttttggtttt tggcatcttt
     4261 cttatactca gttttttctg ccttaattcc catttaccag cagttaactc atgtttattg
     4321 tgctttcatg cattgtgata tggaatgtgt ttagtaattt actccttata aatatggtaa
     4381 agtaca
//
