LOCUS       NM_000602               3156 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens serpin family E member 1 (SERPINE1), transcript
            variant 2, mRNA.
ACCESSION   NM_000602
VERSION     NM_000602.5
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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 3156)
  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 CN309001.1, BC010860.1,
            M16006.1 and AI752990.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000602.4.
            
            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 :: M16006.1, SRR11853566.25644.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related    :: involved in immune response or antiviral
                                      activity
            MANE Ensembl match     :: ENST00000223095.5/ ENSP00000223095.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-20                CN309001.1         17-36
            21-1711             BC010860.1         1-1691
            1712-2356           M16006.1           1645-2289
            2357-2934           M16006.1           2299-2876
            2935-3156           AI752990.1         37-258              c
FEATURES             Location/Qualifiers
     source          1..3156
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q22.1"
     gene            1..3156
                     /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..413
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..1351
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; 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 2
                     precursor"
                     /protein_id="NP_000593.1"
                     /db_xref="CCDS:CCDS5711.1"
                     /db_xref="GeneID:5054"
                     /db_xref="HGNC:HGNC:8583"
                     /db_xref="MIM:173360"
                     /translation="MQMSPALTCLVLGLALVFGEGSAVHHPPSYVAHLASDFGVRVFQ
                     QVAQASKDRNVVFSPYGVASVLAMLQLTTGGETQQQIQAAMGFKIDDKGMAPALRHLY
                     KELMGPWNKDEISTTDAIFVQRDLKLVQGFMPHFFRLFRSTVKQVDFSEVERARFIIN
                     DWVKTHTKGMISNLLGKGAVDQLTRLVLVNALYFNGQWKTPFPDSSTHRRLFHKSDGS
                     TVSVPMMAQTNKFNYTEFTTPDGHYYDILELPYHGDTLSMFIAAPYEKEVPLSALTNI
                     LSAQLISHWKGNMTRLPRLLVLPKFSLETEVDLRKPLENLGMTDMFRQFQADFTSLSD
                     QEPLHVAQALQKVKIEVNESGTVASSSTAVIVSARMAPEEIIMDRPFLFVVRHNPTGT
                     VLFMGQVMEP"
     exon            414..647
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            648..842
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            843..1041
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1142
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1229
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1230..1313
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1314..3156
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2192..2197
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="hexamer: AATAAT"
     polyA_site      2212
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
     regulatory      3136..3141
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPINE1"
                     /gene_synonym="PAI; PAI-1; PAI1; PLANH1"
                     /note="hexamer: AATAAA"
     polyA_site      3156
                     /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 atgacaaggg
      421 catggccccc gccctccggc atctgtacaa ggagctcatg gggccatgga acaaggatga
      481 gatcagcacc acagacgcga tcttcgtcca gcgggatctg aagctggtcc agggcttcat
      541 gccccacttc ttcaggctgt tccggagcac ggtcaagcaa gtggactttt cagaggtgga
      601 gagagccaga ttcatcatca atgactgggt gaagacacac acaaaaggta tgatcagcaa
      661 cttgcttggg aaaggagccg tggaccagct gacacggctg gtgctggtga atgccctcta
      721 cttcaacggc cagtggaaga ctcccttccc cgactccagc acccaccgcc gcctcttcca
      781 caaatcagac ggcagcactg tctctgtgcc catgatggct cagaccaaca agttcaacta
      841 tactgagttc accacgcccg atggccatta ctacgacatc ctggaactgc cctaccacgg
      901 ggacaccctc agcatgttca ttgctgcccc ttatgaaaaa gaggtgcctc tctctgccct
      961 caccaacatt ctgagtgccc agctcatcag ccactggaaa ggcaacatga ccaggctgcc
     1021 ccgcctcctg gttctgccca agttctccct ggagactgaa gtcgacctca ggaagcccct
     1081 agagaacctg ggaatgaccg acatgttcag acagtttcag gctgacttca cgagtctttc
     1141 agaccaagag cctctccacg tcgcgcaggc gctgcagaaa gtgaagatcg aggtgaacga
     1201 gagtggcacg gtggcctcct catccacagc tgtcatagtc tcagcccgca tggcccccga
     1261 ggagatcatc atggacagac ccttcctctt tgtggtccgg cacaacccca caggaacagt
     1321 ccttttcatg ggccaagtga tggaaccctg accctgggga aagacgcctt catctgggac
     1381 aaaactggag atgcatcggg aaagaagaaa ctccgaagaa aagaatttta gtgttaatga
     1441 ctctttctga aggaagagaa gacatttgcc ttttgttaaa agatggtaaa ccagatctgt
     1501 ctccaagacc ttggcctctc cttggaggac ctttaggtca aactccctag tctccacctg
     1561 agaccctggg agagaagttt gaagcacaac tcccttaagg tctccaaacc agacggtgac
     1621 gcctgcggga ccatctgggg cacctgcttc cacccgtctc tctgcccact cgggtctgca
     1681 gacctggttc ccactgaggc cctttgcagg atggaactac ggggcttaca ggagcttttg
     1741 tgtgcctggt agaaactatt tctgttccag tcacattgcc atcactcttg tactgcctgc
     1801 caccgcggag gaggctggtg acaggccaaa ggccagtgga agaaacaccc tttcatctca
     1861 gagtccactg tggcactggc cacccctccc cagtacaggg gtgctgcagg tggcagagtg
     1921 aatgtccccc atcatgtggc ccaactctcc tggcctggcc atctccctcc ccagaaacag
     1981 tgtgcatggg ttattttgga gtgtaggtga cttgtttact cattgaagca gatttctgct
     2041 tccttttatt tttataggaa tagaggaaga aatgtcagat gcgtgcccag ctcttcaccc
     2101 cccaatctct tggtggggag gggtgtacct aaatatttat catatccttg cccttgagtg
     2161 cttgttagag agaaagagaa ctactaagga aaataatatt atttaaactc gctcctagtg
     2221 tttctttgtg gtctgtgtca ccgtatctca ggaagtccag ccacttgact ggcacacacc
     2281 cctccggaca tccagcgtga cggagcccac actgccacct tgtggccgcc tgagaccctc
     2341 gcgccccccg cgcccctctt tttccccttg atggaaattg accatacaat ttcatcctcc
     2401 ttcaggggat caaaaggacg gagtgggggg acagagactc agatgaggac agagtggttt
     2461 ccaatgtgtt caatagattt aggagcagaa atgcaagggg ctgcatgacc taccaggaca
     2521 gaactttccc caattacagg gtgactcaca gccgcattgg tgactcactt caatgtgtca
     2581 tttccggctg ctgtgtgtga gcagtggaca cgtgaggggg gggtgggtga gagagacagg
     2641 cagctcggat tcaactacct tagataatat ttctgaaaac ctaccagcca gagggtaggg
     2701 cacaaagatg gatgtaatgc actttgggag gccaaggcgg gaggattgct tgagcccagg
     2761 agttcaagac cagcctgggc aacataccaa gacccccgtc tctttaaaaa tatatatatt
     2821 ttaaatatac ttaaatatat atttctaata tctttaaata tatatatata ttttaaagac
     2881 caatttatgg gagaattgca cacagatgtg aaatgaatgt aatctaatag aagcctaatc
     2941 agcccaccat gttctccact gaaaaatcct ctttctttgg ggtttttctt tctttctttt
     3001 ttgattttgc actggacggt gacgtcagcc atgtacagga tccacagggg tggtgtcaaa
     3061 tgctattgaa attgtgttga attgtatgct ttttcacttt tgataaataa acatgtaaaa
     3121 atgtttcaaa aaaataataa aataaataaa tacgaa
//
