LOCUS       NM_000128               3053 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens coagulation factor XI (F11), transcript variant 1,
            mRNA.
ACCESSION   NM_000128
VERSION     NM_000128.4
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 3053)
  AUTHORS   Puy,C., Moellmer,S.A., Pang,J., Vu,H.H., Melrose,A.R.,
            Lorentz,C.U., Tucker,E.I., Shatzel,J.J., Keshari,R.S., Lupu,F.,
            Gailani,D. and McCarty,O.J.T.
  TITLE     Coagulation factor XI regulates endothelial cell permeability and
            barrier function in vitro and in vivo
  JOURNAL   Blood 144 (17), 1821-1833 (2024)
   PUBMED   39158072
  REMARK    GeneRIF: Coagulation factor XI regulates endothelial cell
            permeability and barrier function in vitro and in vivo.
REFERENCE   2  (bases 1 to 3053)
  AUTHORS   Stepien,K., Siudut,J., Zalewski,J., Nowakowski,T. and Undas,A.
  TITLE     Elevated plasma factor XI is associated with postthrombotic
            syndrome
  JOURNAL   Thromb Res 241, 109086 (2024)
   PUBMED   38968817
  REMARK    GeneRIF: Elevated plasma factor XI is associated with
            postthrombotic syndrome.
REFERENCE   3  (bases 1 to 3053)
  AUTHORS   Umerah,C.O. and Momodu,I.I.
  TITLE     Anticoagulation
  JOURNAL   (in) ? (Ed.);
            STATPEARLS;
            (2024)
   PUBMED   32809486
REFERENCE   4  (bases 1 to 3053)
  AUTHORS   Rai,V., Balters,M.W. and Agrawal,D.K.
  TITLE     Factors IX, XI, and XII: potential therapeutic targets for
            anticoagulant therapy in atherothrombosis
  JOURNAL   Rev Cardiovasc Med 20 (4), 245-253 (2019)
   PUBMED   31912715
  REMARK    Review article
REFERENCE   5  (bases 1 to 3053)
  AUTHORS   Szekely,O., Borgi,M. and Lip,G.Y.H.
  TITLE     Factor XI inhibition fulfilling the optimal expectations for ideal
            anticoagulation
  JOURNAL   Expert Opin Emerg Drugs 24 (1), 55-61 (2019)
   PUBMED   30845846
  REMARK    Review article
REFERENCE   6  (bases 1 to 3053)
  AUTHORS   Al-Horani,R.A. and Afosah,D.K.
  TITLE     Recent advances in the discovery and development of factor XI/XIa
            inhibitors
  JOURNAL   Med Res Rev 38 (6), 1974-2023 (2018)
   PUBMED   29727017
  REMARK    Review article
REFERENCE   7  (bases 1 to 3053)
  AUTHORS   Pathak,M., Kaira,B.G., Slater,A. and Emsley,J.
  TITLE     Cell Receptor and Cofactor Interactions of the Contact Activation
            System and Factor XI
  JOURNAL   Front Med (Lausanne) 5, 66 (2018)
   PUBMED   29619369
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3053)
  AUTHORS   Dossenbach-Glaninger,A. and Hopmeier,P.
  TITLE     Coagulation factor XI: a database of mutations and polymorphisms
            associated with factor XI deficiency
  JOURNAL   Blood Coagul Fibrinolysis 16 (4), 231-238 (2005)
   PUBMED   15870541
  REMARK    GeneRIF: To provide a complete database of mutations and
            polymorphisms associated with factor XI deficiency, all available
            data on hereditary factor XI deficiency from main biological and
            medical databases were collected
            Review article
REFERENCE   9  (bases 1 to 3053)
  AUTHORS   Meijers,J.C., Davie,E.W. and Chung,D.W.
  TITLE     Expression of human blood coagulation factor XI: characterization
            of the defect in factor XI type III deficiency
  JOURNAL   Blood 79 (6), 1435-1440 (1992)
   PUBMED   1547342
REFERENCE   10 (bases 1 to 3053)
  AUTHORS   Mandle,R.J. Jr. and Kaplan,A.P.
  TITLE     Hageman-factor-dependent fibrinolysis: generation of fibrinolytic
            activity by the interaction of human activated factor XI and
            plasminogen
  JOURNAL   Blood 54 (4), 850-862 (1979)
   PUBMED   89876
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA630863.1, M13142.1 and
            AC110771.3.
            
            On Aug 31, 2019 this sequence version replaced NM_000128.3.
            
            Summary: This gene encodes coagulation factor XI of the blood
            coagulation cascade. This protein is present in plasma as a
            zymogen, which is a unique plasma coagulation enzyme because it
            exists as a homodimer consisting of two identical polypeptide
            chains linked by disulfide bonds. During activation of the plasma
            factor XI, an internal peptide bond is cleaved by factor XIIa (or
            XII) in each of the two chains, resulting in activated factor XIa,
            a serine protease composed of two heavy and two light chains held
            together by disulfide bonds. This activated plasma factor XI
            triggers the middle phase of the intrisic pathway of blood
            coagulation by activating factor IX. Defects in this factor lead to
            Rosenthal syndrome, a blood coagulation abnormality. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and 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 :: BC122863.1, M13142.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142363
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000403665.7/ ENSP00000384957.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-65                DA630863.1         226-290
            66-2152             M13142.1           1-2087
            2153-3053           AC110771.3         155613-156513
FEATURES             Location/Qualifiers
     source          1..3053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..3053
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="coagulation factor XI"
                     /db_xref="GeneID:2160"
                     /db_xref="HGNC:HGNC:3529"
                     /db_xref="MIM:264900"
     exon            1..107
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            108..163
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            164..326
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            327..433
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            434..593
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            594..703
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            704..863
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            864..973
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1136
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1243
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            1244..1412
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1588
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1684
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            1685..1824
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..3053
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="hexamer: AACAAA"
     polyA_site      2156
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
                     /note="major polyA site"
     polyA_site      2191
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
     polyA_site      2680
                     /gene="F11"
                     /gene_synonym="FXI; PTA"
ORIGIN      
        1 gaccatttcc tacacaagct cattcagagg aggatgaaga ccattttgga ggaagaaaag
       61 cacccttatt aagaattgca gcaagtaagc caacaaggtc ttttcaggat gattttctta
      121 tatcaagtgg tacatttcat tttatttact tcagtttctg gtgaatgtgt gactcagttg
      181 ttgaaggaca cctgctttga aggaggggac attactacgg tcttcacacc aagcgccaag
      241 tactgccagg tagtctgcac ttaccaccca agatgtttac tcttcacttt cacggcggaa
      301 tcaccatctg aggatcccac ccgatggttt acttgtgtcc tgaaagacag tgttacagaa
      361 acactgccaa gagtgaatag gacagcagcg atttctgggt attctttcaa gcaatgctca
      421 caccaaataa gcgcttgcaa caaagacatt tatgtggacc tagacatgaa gggcataaac
      481 tataacagct cagttgccaa gagtgctcaa gaatgccaag aaagatgcac ggatgacgtc
      541 cactgccact ttttcacgta cgccacaagg cagtttccca gcctggagca tcgtaacatt
      601 tgtctactga agcacaccca aacagggaca ccaaccagaa taacgaagct cgataaagtg
      661 gtgtctggat tttcactgaa atcctgtgca ctttctaatc tggcttgtat tagggacatt
      721 ttccctaata cggtgtttgc agacagcaac atcgacagtg tcatggctcc cgatgctttt
      781 gtctgtggcc gaatctgcac tcatcatccc ggttgcttgt tttttacctt cttttcccag
      841 gaatggccca aagaatctca aagaaatctt tgtctcctta aaacatctga gagtggattg
      901 cccagtacac gcattaaaaa gagcaaagct ctttctggtt tcagtctaca aagctgcagg
      961 cacagcatcc cagtgttctg ccattcttca ttttaccatg acactgattt cttgggagaa
     1021 gaactggata ttgttgctgc aaaaagtcac gaggcctgcc agaaactgtg caccaatgcc
     1081 gtccgctgcc agttttttac ctatacccca gcccaagcat cctgcaacga agggaagggc
     1141 aagtgttact taaagctttc ttcaaacgga tctccaacta aaatacttca cgggagagga
     1201 ggcatctctg gatacacatt aaggttgtgt aaaatggata atgagtgtac caccaaaatc
     1261 aagcccagga tcgttggagg aactgcgtct gttcgtggtg agtggccgtg gcaggtgacc
     1321 ctgcacacaa cctcacccac tcagagacac ctgtgtggag gctccatcat tggaaaccag
     1381 tggatattaa cagccgctca ctgtttctat ggggtagagt cacctaagat tttgcgtgtc
     1441 tacagtggca ttttaaatca atctgaaata aaagaggaca catctttctt tggggttcaa
     1501 gaaataataa tccatgatca gtataaaatg gcagaaagcg ggtatgatat tgccttgttg
     1561 aaactggaaa ccacagtgaa ttacacagat tctcaacgac ccatatgcct gccttccaaa
     1621 ggagatagaa atgtaatata cactgattgc tgggtgactg gatgggggta cagaaaacta
     1681 agagacaaaa tacaaaatac tctccagaaa gccaagatac ccttagtgac caacgaagag
     1741 tgccagaaga gatacagagg acataaaata acccataaga tgatctgtgc cggctacagg
     1801 gaaggaggga aggacgcttg caagggagat tcgggaggcc ctctgtcctg caaacacaat
     1861 gaggtctggc atctggtagg catcacgagc tggggcgaag gctgtgctca aagggagcgg
     1921 ccaggtgttt acaccaacgt ggtcgagtac gtggactgga ttctggagaa aactcaagca
     1981 gtgtgaatgg gttcccaggg gccattggag tccctgaagg acccaggatt tgctgggaga
     2041 gggtgttgag ttcactgtgc cagcatgctt cctccacagt aacacgctga aggggcttgg
     2101 tgtttgtaag aaaatgctag aagaaaacaa actgtcacaa gttgttatgt ccaaaactcc
     2161 cgttctatga tcgttgtagt ttgtttgagc attcagtctc tttgtttttg atcacgcttc
     2221 tatggagtcc aagaattacc ataaggcaat atttctgaag attactatat aggcagatat
     2281 agcagaaaat aaccaagtag tggcagtggg gatcaggcag aagaactggt aaaagaagcc
     2341 accataaata gatttgttcg atgaaagatg aaaactggaa gaaaggagaa caaagacagt
     2401 cttcaccatt ttgcaggaat ctacactctg cctatgtgaa cacatttctt ttgtaaagaa
     2461 agaaattgat tgcatttaat ggcagatttt cagaatagtc aggaattctt gtcatttcca
     2521 ttttaaaata tatattaaaa aaaatcagtt cgagtagaca cgagctaaga gtgaatgtga
     2581 agataacaga atttctgtgt ggaagaggat tacaagcagc aatttacctg gaagtgatac
     2641 cttaggggca atcttgaaga tacactttcc tgaaaaatga tttgtgatgg attgtatatt
     2701 tatttaaaat atcttgggag gggaggctga tggagatagg gagcatgctc aaacctccct
     2761 aagacaagct gctgctgtga ctatgggctc ccaaagagct agatcgtata tttatttgac
     2821 aaaaatcacc atagactgca tccatactac agagaaaaaa caattagggc gcaaatggat
     2881 agttacagta aagtcttcag caagcagctg cctgtattct aagcactggg attttctgtt
     2941 tcgtgcaaat atttatctca ttattgttgt gatctagttc aataacctag aatttgaatt
     3001 gtcaccacat agctttcaat ctgtgccaac aactatacaa ttcatcaagt gtg
//
