LOCUS       NM_001386466            3180 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens serpin family E member 1 (SERPINE1), transcript
            variant 12, mRNA.
ACCESSION   NM_001386466
VERSION     NM_001386466.1
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 3180)
  AUTHORS   Doelker,T., Gallwas,J. and Grundker,C.
  TITLE     Suppressing Expression of SERPINE1/PAI1 Through Activation of GPER1
            Reduces Progression of Vulvar Carcinoma
  JOURNAL   Cancer Genomics Proteomics 21 (6), 566-579 (2024)
   PUBMED   39467628
  REMARK    GeneRIF: Suppressing Expression of SERPINE1/PAI1 Through Activation
            of GPER1 Reduces Progression of Vulvar Carcinoma.
REFERENCE   2  (bases 1 to 3180)
  AUTHORS   Khoukaz,H.B., Vadali,M., Schoenherr,A., Ramirez-Perez,F.I.,
            Morales-Quinones,M., Sun,Z., Fujie,S., Foote,C.A., Lyu,Z., Zeng,S.,
            Augenreich,M.A., Cai,D., Chen,S.Y., Joshi,T., Ji,Y., Hill,M.A.,
            Martinez-Lemus,L.A. and Fay,W.P.
  TITLE     PAI-1 Regulates the Cytoskeleton and Intrinsic Stiffness of
            Vascular Smooth Muscle Cells
  JOURNAL   Arterioscler Thromb Vasc Biol 44 (10), 2191-2203 (2024)
   PUBMED   38868940
  REMARK    GeneRIF: PAI-1 Regulates the Cytoskeleton and Intrinsic Stiffness
            of Vascular Smooth Muscle Cells.
REFERENCE   3  (bases 1 to 3180)
  AUTHORS   Guo,X., Zhou,H., Liu,Y., Xu,W., Kanwore,K. and Zhang,L.
  TITLE     Glial-Cell-Line-Derived Neurotrophic Factor Promotes Glioblastoma
            Cell Migration and Invasion via the SMAD2/3-SERPINE1-Signaling Axis
  JOURNAL   Int J Mol Sci 25 (18), 10229 (2024)
   PUBMED   39337713
  REMARK    GeneRIF: Glial-Cell-Line-Derived Neurotrophic Factor Promotes
            Glioblastoma Cell Migration and Invasion via the
            SMAD2/3-SERPINE1-Signaling Axis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3180)
  AUTHORS   Yatsenko,T., Rios,R., Nogueira,T., Salama,Y., Takahashi,S.,
            Adachi,E., Tabe,Y., Hattori,N., Osada,T., Naito,T., Takahashi,K.,
            Hattori,K. and Heissig,B.
  TITLE     The influence of 4G/5G polymorphism in the
            plasminogen-activator-inhibitor-1 promoter on COVID-19 severity and
            endothelial dysfunction
  JOURNAL   Front Immunol 15, 1445294 (2024)
   PUBMED   39281671
  REMARK    GeneRIF: The influence of 4G/5G polymorphism in the
            plasminogen-activator-inhibitor-1 promoter on COVID-19 severity and
            endothelial dysfunction.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3180)
  AUTHORS   Klajmon,A., Zabczyk,M., Undas,A. and Natorska,J.
  TITLE     SERPINE1 and MTHFR genetic variants in patients with embolic stroke
            of undetermined source: links with fibrin clot properties
  JOURNAL   Neurol Neurochir Pol 58 (4), 405-412 (2024)
   PUBMED   38864767
  REMARK    GeneRIF: SERPINE1 and MTHFR genetic variants in patients with
            embolic stroke of undetermined source: links with fibrin clot
            properties.
REFERENCE   6  (bases 1 to 3180)
  AUTHORS   Heiman,M., Gupta,S., Lewandowska,M. and Shapiro,A.D.
  TITLE     Complete Plasminogen Activator Inhibitor 1 Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28771291
REFERENCE   7  (bases 1 to 3180)
  AUTHORS   Fay,W.P., Shapiro,A.D., Shih,J.L., Schleef,R.R. and Ginsburg,D.
  TITLE     Brief report: complete deficiency of plasminogen-activator
            inhibitor type 1 due to a frame-shift mutation
  JOURNAL   N Engl J Med 327 (24), 1729-1733 (1992)
   PUBMED   1435917
REFERENCE   8  (bases 1 to 3180)
  AUTHORS   Koh,S.C., Wong,P.C., Yuen,R., Chua,S.E., Ng,B.L. and Ratnam,S.S.
  TITLE     Concentration of plasminogen activators and inhibitor in the human
            endometrium at different phases of the menstrual cycle
  JOURNAL   J Reprod Fertil 96 (2), 407-413 (1992)
   PUBMED   1339823
REFERENCE   9  (bases 1 to 3180)
  AUTHORS   Hagege,J., Peraldi,M.N., Rondeau,E., Adida,C., Delarue,F.,
            Medcalf,R., Schleuning,W.D. and Sraer,J.D.
  TITLE     Plasminogen activator inhibitor-1 deposition in the extracellular
            matrix of cultured human mesangial cells
  JOURNAL   Am J Pathol 141 (1), 117-128 (1992)
   PUBMED   1632457
REFERENCE   10 (bases 1 to 3180)
  AUTHORS   Ehrlich,H.J., Gebbink,R.K., Keijer,J., Linders,M., Preissner,K.T.
            and Pannekoek,H.
  TITLE     Alteration of serpin specificity by a protein cofactor. Vitronectin
            endows plasminogen activator inhibitor 1 with thrombin inhibitory
            properties
  JOURNAL   J Biol Chem 265 (22), 13029-13035 (1990)
   PUBMED   1695900
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004876.2.
            
            Summary: This gene encodes a member of the serine proteinase
            inhibitor (serpin) superfamily. This member is the principal
            inhibitor of tissue plasminogen activator (tPA) and urokinase
            (uPA), and hence is an inhibitor of fibrinolysis. The protein also
            functions as a component of innate antiviral immunity. Defects in
            this gene are the cause of plasminogen activator inhibitor-1
            deficiency (PAI-1 deficiency), and high concentrations of the gene
            product are associated with thrombophilia. [provided by RefSeq, Aug
            2020].
            
            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 :: SRR14243140.9738882.1,
                                           SRR14038194.80895.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related :: involved in immune response or antiviral
                                   activity
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-141               AC004876.2         23139-23279
            142-437             AC004876.2         24428-24723
            438-671             AC004876.2         26456-26689
            672-866             AC004876.2         27910-28104
            867-1065            AC004876.2         29730-29928
            1066-1166           AC004876.2         31529-31629
            1167-1253           AC004876.2         31750-31836
            1254-1337           AC004876.2         33036-33119
            1338-3180           AC004876.2         33440-35282
FEATURES             Location/Qualifiers
     source          1..3180
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..3180
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="serpin family E member 1"
                     /db_xref="GeneID:5054"
                     /db_xref="HGNC:HGNC:8583"
                     /db_xref="MIM:173360"
     exon            1..141
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            142..437
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..1375
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="isoform 12 precursor is encoded by transcript
                     variant 12; serine (or cysteine) proteinase inhibitor,
                     clade E (nexin, plasminogen activator inhibitor type 1),
                     member 1; endothelial plasminogen activator inhibitor;
                     serpin E1; serpin peptidase inhibitor, clade E (nexin,
                     plasminogen activator inhibitor type 1), member 1"
                     /codon_start=1
                     /product="plasminogen activator inhibitor 1 isoform 12
                     precursor"
                     /protein_id="NP_001373395.1"
                     /db_xref="GeneID:5054"
                     /db_xref="HGNC:HGNC:8583"
                     /db_xref="MIM:173360"
                     /translation="MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQ
                     QVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQIQAAMGFKIDGEPRDTRGDKGM
                     APALRHLYKELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEV
                     ERARFIINDWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRR
                     LFHKSDGSTVSVPMMAQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEV
                     PLSALTNILSAQLISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTDMFRQFQ
                     ADFTSLSDQEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFV
                     VRHNPTGTVLFMGQVMEP"
     exon            438..671
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            672..866
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            867..1065
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1066..1166
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1167..1253
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1337
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..3180
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2216..2221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="hexamer: AATAAT"
     polyA_site      2236
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
     regulatory      3160..3165
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="hexamer: AATAAA"
     polyA_site      3180
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="major polyA site"
ORIGIN      
        1 acagctgtgt ttggctgcag ggccaagagc gctgtcaaga agacccacac gcccccctcc
       61 agcagctgaa ttcctgcagc tcagcagccg ccgccagagc aggacgaacc gccaatcgca
      121 aggcacctct gagaacttca ggatgcagat gtctccagcc ctcacctgcc tagtcctggg
      181 cctggccctt gtctttggtg aagggtctgc tgtgcaccat cccccatcct acgtggccca
      241 cctggcctca gacttcgggg tgagggtgtt tcagcaggtg gcgcaggcct ccaaggaccg
      301 caacgtggtt ttctcaccct atggggtggc ctcggtgttg gccatgctcc agctgacaac
      361 aggaggagaa acccagcagc agattcaagc agctatggga ttcaagattg atggtgagcc
      421 acgggacacc aggggagaca agggcatggc ccccgccctc cggcatctgt acaaggagct
      481 catggggcca tggaacaagg atgagatcag caccacagac gcgatcttcg tccagcggga
      541 tctgaagctg gtccagggct tcatgcccca cttcttcagg ctgttccgga gcacggtcaa
      601 gcaagtggac ttttcagagg tggagagagc cagattcatc atcaatgact gggtgaagac
      661 acacacaaaa ggtatgatca gcaacttgct tgggaaagga gccgtggacc agctgacacg
      721 gctggtgctg gtgaatgccc tctacttcaa cggccagtgg aagactccct tccccgactc
      781 cagcacccac cgccgcctct tccacaaatc agacggcagc actgtctctg tgcccatgat
      841 ggctcagacc aacaagttca actatactga gttcaccacg cccgatggcc attactacga
      901 catcctggaa ctgccctacc acggggacac cctcagcatg ttcattgctg ccccttatga
      961 aaaagaggtg cctctctctg ccctcaccaa cattctgagt gcccagctca tcagccactg
     1021 gaaaggcaac atgaccaggc tgccccgcct cctggttctg cccaagttct ccctggagac
     1081 tgaagtcgac ctcaggaagc ccctagagaa cctgggaatg accgacatgt tcagacagtt
     1141 tcaggctgac ttcacgagtc tttcagacca agagcctctc cacgtcgcgc aggcgctgca
     1201 gaaagtgaag atcgaggtga acgagagtgg cacggtggcc tcctcatcca cagctgtcat
     1261 agtctcagcc cgcatggccc ccgaggagat catcatggac agacccttcc tctttgtggt
     1321 ccggcacaac cccacaggaa cagtcctttt catgggccaa gtgatggaac cctgaccctg
     1381 gggaaagacg ccttcatctg ggacaaaact ggagatgcat cgggaaagaa gaaactccga
     1441 agaaaagaat tttagtgtta atgactcttt ctgaaggaag agaagacatt tgccttttgt
     1501 taaaagatgg taaaccagat ctgtctccaa gaccttggcc tctccttgga ggacctttag
     1561 gtcaaactcc ctagtctcca cctgagaccc tgggagagaa gtttgaagca caactccctt
     1621 aaggtctcca aaccagacgg tgacgcctgc gggaccatct ggggcacctg cttccacccg
     1681 tctctctgcc cactcgggtc tgcagacctg gttcccactg aggccctttg caggatggaa
     1741 ctacggggct tacaggagct tttgtgtgcc tggtagaaac tatttctgtt ccagtcacat
     1801 tgccatcact cttgtactgc ctgccaccgc ggaggaggct ggtgacaggc caaaggccag
     1861 tggaagaaac accctttcat ctcagagtcc actgtggcac tggccacccc tccccagtac
     1921 aggggtgctg caggtggcag agtgaatgtc ccccatcatg tggcccaact ctcctggcct
     1981 ggccatctcc ctccccagaa acagtgtgca tgggttattt tggagtgtag gtgacttgtt
     2041 tactcattga agcagatttc tgcttccttt tatttttata ggaatagagg aagaaatgtc
     2101 agatgcgtgc ccagctcttc accccccaat ctcttggtgg ggaggggtgt acctaaatat
     2161 ttatcatatc cttgcccttg agtgcttgtt agagagaaag agaactacta aggaaaataa
     2221 tattatttaa actcgctcct agtgtttctt tgtggtctgt gtcaccgtat ctcaggaagt
     2281 ccagccactt gactggcaca cacccctccg gacatccagc gtgacggagc ccacactgcc
     2341 accttgtggc cgcctgagac cctcgcgccc cccgcgcccc tctttttccc cttgatggaa
     2401 attgaccata caatttcatc ctccttcagg ggatcaaaag gacggagtgg ggggacagag
     2461 actcagatga ggacagagtg gtttccaatg tgttcaatag atttaggagc agaaatgcaa
     2521 ggggctgcat gacctaccag gacagaactt tccccaatta cagggtgact cacagccgca
     2581 ttggtgactc acttcaatgt gtcatttccg gctgctgtgt gtgagcagtg gacacgtgag
     2641 gggggggtgg gtgagagaga caggcagctc ggattcaact accttagata atatttctga
     2701 aaacctacca gccagagggt agggcacaaa gatggatgta atgcactttg ggaggccaag
     2761 gcgggaggat tgcttgagcc caggagttca agaccagcct gggcaacata ccaagacccc
     2821 cgtctcttta aaaatatata tattttaaat atacttaaat atatatttct aatatcttta
     2881 aatatatata tatattttaa agaccaattt atgggagaat tgcacacaga tgtgaaatga
     2941 atgtaatcta atagaagcct aatcagccca ccatgttctc cactgaaaaa tcctctttct
     3001 ttggggtttt tctttctttc ttttttgatt ttgcactgga cggtgacgtc agccatgtac
     3061 aggatccaca ggggtggtgt caaatgctat tgaaattgtg ttgaattgta tgctttttca
     3121 cttttgataa ataaacatgt aaaaatgttt caaaaaaata ataaaataaa taaatacgaa
//
