LOCUS       NM_000133               2800 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens coagulation factor IX (F9), transcript variant 1,
            mRNA.
ACCESSION   NM_000133
VERSION     NM_000133.4
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 2800)
  AUTHORS   Liu,D., Guo,R., Chen,M., Shi,B., Weng,J. and Fu,Z.
  TITLE     Study on the Mutation of F Gene in 31 Patients with Type B
            Hemophilia
  JOURNAL   Clin Appl Thromb Hemost 30, 10760296241275454 (2024)
   PUBMED   39135443
  REMARK    GeneRIF: Study on the Mutation of F Gene in 31 Patients with Type B
            Hemophilia.
REFERENCE   2  (bases 1 to 2800)
  AUTHORS   Strijbis,V.J.F., Vatandoost,J. and Bos,M.H.A.
  TITLE     Crippling down factor IX for therapeutic gain
  JOURNAL   J Thromb Haemost 21 (12), 3287-3291 (2023)
   PUBMED   37678545
  REMARK    GeneRIF: Crippling down factor IX for therapeutic gain.
            Review article
REFERENCE   3  (bases 1 to 2800)
  AUTHORS   Wang,R., Jiang,S., Wang,X., Wei,D., Xu,Q. and Wu,W.
  TITLE     Structural and functional exploration of three newly identified
            coagulation factor IX mutations in Chinese hemophilia B patients
  JOURNAL   Int J Hematol 118 (2), 201-209 (2023)
   PUBMED   37210691
  REMARK    GeneRIF: Structural and functional exploration of three newly
            identified coagulation factor IX mutations in Chinese hemophilia B
            patients.
REFERENCE   4  (bases 1 to 2800)
  AUTHORS   Xu,Z., Spencer,H.J., Harris,V.A. and Perkins,S.J.
  TITLE     An updated interactive database for 1692 genetic variants in
            coagulation factor IX provides detailed insights into hemophilia B
  JOURNAL   J Thromb Haemost 21 (5), 1164-1176 (2023)
   PUBMED   36787808
  REMARK    GeneRIF: An updated interactive database for 1692 genetic variants
            in coagulation factor IX provides detailed insights into hemophilia
            B.
REFERENCE   5  (bases 1 to 2800)
  AUTHORS   Konkle,B.A. and Nakaya Fletcher,S.
  TITLE     Hemophilia B
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301668
REFERENCE   6  (bases 1 to 2800)
  AUTHORS   Baron,M., Norman,D.G., Harvey,T.S., Handford,P.A., Mayhew,M.,
            Tse,A.G., Brownlee,G.G. and Campbell,I.D.
  TITLE     The three-dimensional structure of the first EGF-like module of
            human factor IX: comparison with EGF and TGF-alpha
  JOURNAL   Protein Sci 1 (1), 81-90 (1992)
   PUBMED   1304885
REFERENCE   7  (bases 1 to 2800)
  AUTHORS   Anson,D.S., Choo,K.H., Rees,D.J., Giannelli,F., Gould,K.,
            Huddleston,J.A. and Brownlee,G.G.
  TITLE     The gene structure of human anti-haemophilic factor IX
  JOURNAL   EMBO J 3 (5), 1053-1060 (1984)
   PUBMED   6329734
REFERENCE   8  (bases 1 to 2800)
  AUTHORS   Di Scipio,R.G., Kurachi,K. and Davie,E.W.
  TITLE     Activation of human factor IX (Christmas factor)
  JOURNAL   J Clin Invest 61 (6), 1528-1538 (1978)
   PUBMED   659613
REFERENCE   9  (bases 1 to 2800)
  AUTHORS   Gentry,P.A.
  TITLE     Interaction of heparin with canine coagulation proteins: in vivo
            and in vitro studies
  JOURNAL   Can J Comp Med 41 (4), 396-403 (1977)
   PUBMED   922557
REFERENCE   10 (bases 1 to 2800)
  AUTHORS   Davie,E.W. and Fujikawa,K.
  TITLE     Basic mechanisms in blood coagulation
  JOURNAL   Annu Rev Biochem 44, 799-829 (1975)
   PUBMED   237463
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC109214.1, M11309.1 and
            AL033403.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000133.3.
            
            Summary: This gene encodes vitamin K-dependent coagulation factor
            IX that circulates in the blood as an inactive zymogen. This factor
            is converted to an active form by factor XIa, which excises the
            activation peptide and thus generates a heavy chain and a light
            chain held together by one or more disulfide bonds. The role of
            this activated factor IX in the blood coagulation cascade is to
            activate factor X to its active form through interactions with Ca+2
            ions, membrane phospholipids, and factor VIII. Alterations of this
            gene, including point mutations, insertions and deletions, cause
            factor IX deficiency, which is a recessive X-linked disorder, also
            called hemophilia B or Christmas disease. Alternative splicing
            results in multiple transcript variants encoding different isoforms
            that may undergo similar proteolytic processing. [provided by
            RefSeq, Sep 2015].
            
            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 :: M11309.1, AK292749.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000218099.7/ ENSP00000218099.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2058              BC109214.1         4-2061
            2059-2098           M11309.1           2033-2072
            2099-2099           AL033403.1         36077-36077
            2100-2249           M11309.1           2074-2223
            2250-2799           M11309.1           2226-2775
            2800-2800           AL033403.1         36778-36778
FEATURES             Location/Qualifiers
     source          1..2800
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq27.1"
     gene            1..2800
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="coagulation factor IX"
                     /db_xref="GeneID:2158"
                     /db_xref="HGNC:HGNC:3551"
                     /db_xref="MIM:300746"
     exon            1..114
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1412
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /EC_number="3.4.21.22"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; Christmas factor; plasma thromboplastic
                     component; factor 9; factor IX F9; plasma thromboplastin
                     component"
                     /codon_start=1
                     /product="coagulation factor IX isoform 1 preproprotein"
                     /protein_id="NP_000124.1"
                     /db_xref="CCDS:CCDS14666.1"
                     /db_xref="GeneID:2158"
                     /db_xref="HGNC:HGNC:3551"
                     /db_xref="MIM:300746"
                     /translation="MQRVNMIMAESPGLITICLLGYLLSAECTVFLDHENANKILNRP
                     KRYNSGKLEEFVQGNLERECMEEKCSFEEAREVFENTERTTEFWKQYVDGDQCESNPC
                     LNGGSCKDDINSYECWCPFGFEGKNCELDVTCNIKNGRCEQFCKNSADNKVVCSCTEG
                     YRLAENQKSCEPAVPFPCGRVSVSQTSKLTRAETVFPDVDYVNSTEAETILDNITQST
                     QSFNDFTRVVGGEDAKPGQFPWQVVLNGKVDAFCGGSIVNEKWIVTAAHCVETGVKIT
                     VVAGEHNIEETEHTEQKRNVIRIIPHHNYNAAINKYNHDIALLELDEPLVLNSYVTPI
                     CIADKEYTNIFLKFGSGYVSGWGRVFHKGRSALVLQYLRVPLVDRATCLRSTKFTIYN
                     NMFCAGFHEGGRDSCQGDSGGPHVTEVEGTSFLTGIISWGEECAMKGKYGIYTKVSRY
                     VNWIKEKTKLT"
     exon            115..278
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     exon            279..303
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     exon            304..417
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     exon            418..546
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     exon            547..749
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     exon            750..864
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     exon            865..2800
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2777..2782
                     /regulatory_class="polyA_signal_sequence"
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="hexamer: AATAAA"
     polyA_site      2800
                     /gene="F9"
                     /gene_synonym="F9 p22; FIX; HEMB; P19; PTC; THPH8"
                     /note="major polyA site"
ORIGIN      
        1 actttcacaa tctgctagca aaggttatgc agcgcgtgaa catgatcatg gcagaatcac
       61 caggcctcat caccatctgc cttttaggat atctactcag tgctgaatgt acagtttttc
      121 ttgatcatga aaacgccaac aaaattctga atcggccaaa gaggtataat tcaggtaaat
      181 tggaagagtt tgttcaaggg aaccttgaga gagaatgtat ggaagaaaag tgtagttttg
      241 aagaagcacg agaagttttt gaaaacactg aaagaacaac tgaattttgg aagcagtatg
      301 ttgatggaga tcagtgtgag tccaatccat gtttaaatgg cggcagttgc aaggatgaca
      361 ttaattccta tgaatgttgg tgtccctttg gatttgaagg aaagaactgt gaattagatg
      421 taacatgtaa cattaagaat ggcagatgcg agcagttttg taaaaatagt gctgataaca
      481 aggtggtttg ctcctgtact gagggatatc gacttgcaga aaaccagaag tcctgtgaac
      541 cagcagtgcc atttccatgt ggaagagttt ctgtttcaca aacttctaag ctcacccgtg
      601 ctgagactgt ttttcctgat gtggactatg taaattctac tgaagctgaa accattttgg
      661 ataacatcac tcaaagcacc caatcattta atgacttcac tcgggttgtt ggtggagaag
      721 atgccaaacc aggtcaattc ccttggcagg ttgttttgaa tggtaaagtt gatgcattct
      781 gtggaggctc tatcgttaat gaaaaatgga ttgtaactgc tgcccactgt gttgaaactg
      841 gtgttaaaat tacagttgtc gcaggtgaac ataatattga ggagacagaa catacagagc
      901 aaaagcgaaa tgtgattcga attattcctc accacaacta caatgcagct attaataagt
      961 acaaccatga cattgccctt ctggaactgg acgaaccctt agtgctaaac agctacgtta
     1021 cacctatttg cattgctgac aaggaataca cgaacatctt cctcaaattt ggatctggct
     1081 atgtaagtgg ctggggaaga gtcttccaca aagggagatc agctttagtt cttcagtacc
     1141 ttagagttcc acttgttgac cgagccacat gtcttcgatc tacaaagttc accatctata
     1201 acaacatgtt ctgtgctggc ttccatgaag gaggtagaga ttcatgtcaa ggagatagtg
     1261 ggggacccca tgttactgaa gtggaaggga ccagtttctt aactggaatt attagctggg
     1321 gtgaagagtg tgcaatgaaa ggcaaatatg gaatatatac caaggtatcc cggtatgtca
     1381 actggattaa ggaaaaaaca aagctcactt aatgaaagat ggatttccaa ggttaattca
     1441 ttggaattga aaattaacag ggcctctcac taactaatca ctttcccatc ttttgttaga
     1501 tttgaatata tacattctat gatcattgct ttttctcttt acaggggaga atttcatatt
     1561 ttacctgagc aaattgatta gaaaatggaa ccactagagg aatataatgt gttaggaaat
     1621 tacagtcatt tctaagggcc cagcccttga caaaattgtg aagttaaatt ctccactctg
     1681 tccatcagat actatggttc tccactatgg caactaactc actcaatttt ccctccttag
     1741 cagcattcca tcttcccgat cttctttgct tctccaacca aaacatcaat gtttattagt
     1801 tctgtataca gtacaggatc tttggtctac tctatcacaa ggccagtacc acactcatga
     1861 agaaagaaca caggagtagc tgagaggcta aaactcatca aaaacactac tccttttcct
     1921 ctaccctatt cctcaatctt ttaccttttc caaatcccaa tccccaaatc agtttttctc
     1981 tttcttactc cctctctccc ttttaccctc catggtcgtt aaaggagaga tggggagcat
     2041 cattctgtta tacttctgta cacagttata catgtctatc aaacccagac ttgcttccgt
     2101 agtggagact tgcttttcag aacataggga tgaagtaagg tgcctgaaaa gtttggggga
     2161 aaagtttctt tcagagagtt aagttatttt atatatataa tatatatata aaatatataa
     2221 tatacaatat aaatatatag tgtgtgtgta tgcgtgtgtg tagacacaca cgcatacaca
     2281 catataatgg aagcaataag ccattctaag agcttgtatg gttatggagg tctgactagg
     2341 catgatttca cgaaggcaag attggcatat cattgtaact aaaaaagctg acattgaccc
     2401 agacatattg tactctttct aaaaataata ataataatgc taacagaaag aagagaaccg
     2461 ttcgtttgca atctacagct agtagagact ttgaggaaga attcaacagt gtgtcttcag
     2521 cagtgttcag agccaagcaa gaagttgaag ttgcctagac cagaggacat aagtatcatg
     2581 tctcctttaa ctagcatacc ccgaagtgga gaagggtgca gcaggctcaa aggcataagt
     2641 cattccaatc agccaactaa gttgtccttt tctggtttcg tgttcaccat ggaacatttt
     2701 gattatagtt aatccttcta tcttgaatct tctagagagt tgctgaccaa ctgacgtatg
     2761 tttccctttg tgaattaata aactggtgtt ctggttcata
//
