LOCUS       NM_000892               2258 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens kallikrein B1 (KLKB1), transcript variant 1, mRNA.
ACCESSION   NM_000892
VERSION     NM_000892.5
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 2258)
  AUTHORS   Longhurst,H.J., Lindsay,K., Petersen,R.S., Fijen,L.M., Gurugama,P.,
            Maag,D., Butler,J.S., Shah,M.Y., Golden,A., Xu,Y., Boiselle,C.,
            Vogel,J.D., Abdelhady,A.M., Maitland,M.L., McKee,M.D., Seitzer,J.,
            Han,B.W., Soukamneuth,S., Leonard,J., Sepp-Lorenzino,L.,
            Clark,E.D., Lebwohl,D. and Cohn,D.M.
  TITLE     CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary Angioedema
  JOURNAL   N Engl J Med 390 (5), 432-441 (2024)
   PUBMED   38294975
  REMARK    GeneRIF: CRISPR-Cas9 In Vivo Gene Editing of KLKB1 for Hereditary
            Angioedema.
REFERENCE   2  (bases 1 to 2258)
  AUTHORS   Schachtl-Riess,J.F., Schonherr,S., Lamina,C., Forer,L., Coassin,S.,
            Streiter,G., Kheirkhah,A., Li,Y., Meiselbach,H., Di Maio,S.,
            Eckardt,K.U., Kottgen,A. and Kronenberg,F.
  CONSRTM   GCKD investigators
  TITLE     KLKB1 and CLSTN2 are associated with HDL-mediated cholesterol
            efflux capacity in a genome-wide association study
  JOURNAL   Atherosclerosis 368, 1-11 (2023)
   PUBMED   36812656
  REMARK    GeneRIF: KLKB1 and CLSTN2 are associated with HDL-mediated
            cholesterol efflux capacity in a genome-wide association study.
REFERENCE   3  (bases 1 to 2258)
  AUTHORS   Feng,L., Liu,Y., Chen,M. and Hu,Y.
  TITLE     [Matrix metalloproteinase 14 and plasma kallikrein 1 may be
            potential biomarkers in the diagnosis and treatment of sepsis: a
            proteomics and bioinformatics analysis]
  JOURNAL   Zhonghua Wei Zhong Bing Ji Jiu Yi Xue 34 (7), 676-681 (2022)
   PUBMED   36100402
  REMARK    GeneRIF: [Matrix metalloproteinase 14 and plasma kallikrein 1 may
            be potential biomarkers in the diagnosis and treatment of sepsis: a
            proteomics and bioinformatics analysis].
REFERENCE   4  (bases 1 to 2258)
  AUTHORS   Wan,J., Vadaq,N., Konings,J., Jaeger,M., Kumar,V., de Laat,B.,
            Joosten,L., Netea,M.G., van der Ven,A.J., de Groot,P.G., de Mast,Q.
            and Roest,M.
  TITLE     Kallikrein augments the anticoagulant function of the protein C
            system in thrombin generation
  JOURNAL   J Thromb Haemost 20 (1), 48-57 (2022)
   PUBMED   34532976
  REMARK    GeneRIF: Kallikrein augments the anticoagulant function of the
            protein C system in thrombin generation.
REFERENCE   5  (bases 1 to 2258)
  AUTHORS   Henderson,L.M., Figueroa,C.D., Muller-Esterl,W., Stain,A. and
            Bhoola,K.D.
  TITLE     Immunovisualisation of plasma prekallikrein and H-kininogen on
            human neutrophils and in human hepatocytes
  JOURNAL   Agents Actions Suppl 38 (Pt 1), 590-594 (1992)
   PUBMED   1466300
REFERENCE   6  (bases 1 to 2258)
  AUTHORS   Beaubien,G., Rosinski-Chupin,I., Mattei,M.G., Mbikay,M.,
            Chretien,M. and Seidah,N.G.
  TITLE     Gene structure and chromosomal localization of plasma kallikrein
  JOURNAL   Biochemistry 30 (6), 1628-1635 (1991)
   PUBMED   1993180
REFERENCE   7  (bases 1 to 2258)
  AUTHORS   Chung,D.W., Fujikawa,K., McMullen,B.A. and Davie,E.W.
  TITLE     Human plasma prekallikrein, a zymogen to a serine protease that
            contains four tandem repeats
  JOURNAL   Biochemistry 25 (9), 2410-2417 (1986)
   PUBMED   3521732
REFERENCE   8  (bases 1 to 2258)
  AUTHORS   Thompson,R.E., Mandle,R. Jr. and Kaplan,A.P.
  TITLE     Studies of binding of prekallikrein and Factor XI to high molecular
            weight kininogen and its light chain
  JOURNAL   Proc Natl Acad Sci U S A 76 (10), 4862-4866 (1979)
   PUBMED   291905
REFERENCE   9  (bases 1 to 2258)
  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
REFERENCE   10 (bases 1 to 2258)
  AUTHORS   Aznar,J.A., Espana,F., Aznar,J., Tascon,A. and Jimenez,C.
  TITLE     Fletcher factor deficiency: report of a new family
  JOURNAL   Scand J Haematol 21 (2), 94-98 (1978)
   PUBMED   694428
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292624.1, M13143.2,
            CN265612.1 and AW182528.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000892.4.
            
            Summary: This gene encodes a glycoprotein that participates in the
            surface-dependent activation of blood coagulation, fibrinolysis,
            kinin generation and inflammation. The encoded preproprotein
            present in plasma as a non-covalent complex with high molecular
            weight kininogen undergoes proteolytic processing mediated by
            activated coagulation factor XII to generate a disulfide-linked,
            heterodimeric serine protease comprised of heavy and light chains.
            Certain mutations in this gene cause prekallikrein deficiency.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Jan 2016].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: AK292624.1, SRR5189664.88222.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000264690.11/ ENSP00000264690.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AK292624.1         38-48
            12-509              M13143.2           1-498
            510-510             CN265612.1         665-665
            511-1842            M13143.2           500-1831
            1843-2258           AW182528.1         6-421               c
FEATURES             Location/Qualifiers
     source          1..2258
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.2"
     gene            1..2258
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="kallikrein B1"
                     /db_xref="GeneID:3818"
                     /db_xref="HGNC:HGNC:6371"
                     /db_xref="MIM:229000"
     exon            1..81
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            82..140
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     CDS             83..1999
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /EC_number="3.4.21.34"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; kallikrein B, plasma (Fletcher factor) 1;
                     kininogenin; plasma prekallikrein; plasma kallikrein"
                     /codon_start=1
                     /product="plasma kallikrein isoform 1 preproprotein"
                     /protein_id="NP_000883.2"
                     /db_xref="CCDS:CCDS34120.1"
                     /db_xref="GeneID:3818"
                     /db_xref="HGNC:HGNC:6371"
                     /db_xref="MIM:229000"
                     /translation="MILFKQATYFISLFATVSCGCLTQLYENAFFRGGDVASMYTPNA
                     QYCQMRCTFHPRCLLFSFLPASSINDMEKRFGCFLKDSVTGTLPKVHRTGAVSGHSLK
                     QCGHQISACHRDIYKGVDMRGVNFNVSKVSSVEECQKRCTSNIRCQFFSYATQTFHKA
                     EYRNNCLLKYSPGGTPTAIKVLSNVESGFSLKPCALSEIGCHMNIFQHLAFSDVDVAR
                     VLTPDAFVCRTICTYHPNCLFFTFYTNVWKIESQRNVCLLKTSESGTPSSSTPQENTI
                     SGYSLLTCKRTLPEPCHSKIYPGVDFGGEELNVTFVKGVNVCQETCTKMIRCQFFTYS
                     LLPEDCKEEKCKCFLRLSMDGSPTRIAYGTQGSSGYSLRLCNTGDNSVCTTKTSTRIV
                     GGTNSSWGEWPWQVSLQVKLTAQRHLCGGSLIGHQWVLTAAHCFDGLPLQDVWRIYSG
                     ILNLSDITKDTPFSQIKEIIIHQNYKVSEGNHDIALIKLQAPLNYTEFQKPICLPSKG
                     DTSTIYTNCWVTGWGFSKEKGEIQNILQKVNIPLVTNEECQKRYQDYKITQRMVCAGY
                     KEGGKDACKGDSGGPLVCKHNGMWRLVGITSWGEGCARREQPGVYTKVAEYMDWILEK
                     TQSSDGKAQMQSPA"
     exon            141..303
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            304..410
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            411..570
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            571..680
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            681..840
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            841..950
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1113
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1226
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1227..1395
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1396..1571
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1572..1667
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1668..1807
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     exon            1808..2258
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2239..2244
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="hexamer: AATAAA"
     polyA_site      2258
                     /gene="KLKB1"
                     /gene_synonym="KLK3; PKK; PKKD; PPK"
                     /note="major polyA site"
ORIGIN      
        1 agtgccacat tagaacagct tgaagaccgt tcatttttaa gtgacaagag actcacctcc
       61 aagaagcaat tgtgttttca gaatgatttt attcaagcaa gcaacttatt tcatttcctt
      121 gtttgctaca gtttcctgtg gatgtctgac tcaactctat gaaaacgcct tcttcagagg
      181 tggggatgta gcttccatgt acaccccaaa tgcccaatac tgccagatga ggtgcacatt
      241 ccacccaagg tgtttgctat tcagttttct tccagcaagt tcaatcaatg acatggagaa
      301 aaggtttggt tgcttcttga aagatagtgt tacaggaacc ctgccaaaag tacatcgaac
      361 aggtgcagtt tctggacatt ccttgaagca atgtggtcat caaataagtg cttgccatcg
      421 agacatttat aaaggagttg atatgagagg agtcaatttt aatgtgtcta aggttagcag
      481 tgttgaagaa tgccaaaaaa ggtgcaccag taacattcgc tgccagtttt tttcatatgc
      541 cacgcaaaca tttcacaagg cagagtaccg gaacaattgc ctattaaagt acagtcccgg
      601 aggaacacct accgctataa aggtgctgag taacgtggaa tctggattct cactgaagcc
      661 ctgtgccctt tcagaaattg gttgccacat gaacatcttc cagcatcttg cgttctcaga
      721 tgtggatgtt gccagggttc tcactccaga tgcttttgtg tgtcggacca tctgcaccta
      781 tcaccccaac tgcctcttct ttacattcta tacaaatgta tggaaaatcg agtcacaaag
      841 aaatgtttgt cttcttaaaa catctgaaag tggcacacca agttcctcta ctcctcaaga
      901 aaacaccata tctggatata gccttttaac ctgcaaaaga actttacctg aaccctgcca
      961 ttctaaaatt tacccgggag ttgactttgg aggagaagaa ttgaatgtga cttttgttaa
     1021 aggagtgaat gtttgccaag agacttgcac aaagatgatt cgctgtcagt ttttcactta
     1081 ttctttactc ccagaagact gtaaggaaga gaagtgtaag tgtttcttaa gattatctat
     1141 ggatggttct ccaactagga ttgcgtatgg gacacaaggg agctctggtt actctttgag
     1201 attgtgtaac actggggaca actctgtctg cacaacaaaa acaagcacac gcattgttgg
     1261 aggaacaaac tcttcttggg gagagtggcc ctggcaggtg agcctgcagg tgaagctgac
     1321 agctcagagg cacctgtgtg gagggtcact cataggacac cagtgggtcc tcactgctgc
     1381 ccactgcttt gatgggcttc ccctgcagga tgtttggcgc atctatagtg gcattttaaa
     1441 tctgtcagac attacaaaag atacaccttt ctcacaaata aaagagatta ttattcacca
     1501 aaactataaa gtctcagaag ggaatcatga tatcgccttg ataaaactcc aggctccttt
     1561 gaattacact gaattccaaa aaccaatatg cctaccttcc aaaggtgaca caagcacaat
     1621 ttataccaac tgttgggtaa ccggatgggg cttctcgaag gagaaaggtg aaatccaaaa
     1681 tattctacaa aaggtaaata ttcctttggt aacaaatgaa gaatgccaga aaagatatca
     1741 agattataaa ataacccaac ggatggtctg tgctggctat aaagaagggg gaaaagatgc
     1801 ttgtaaggga gattcaggtg gtcccttagt ttgcaaacac aatggaatgt ggcgtttggt
     1861 gggcatcacc agctggggtg aaggctgtgc ccgcagggag caacctggtg tctacaccaa
     1921 agtcgctgag tacatggact ggattttaga gaaaacacag agcagtgatg gaaaagctca
     1981 gatgcagtca ccagcatgag aagcagtcca gagtctaggc aatttttaca acctgagttc
     2041 aagtcaaatt ctgagcctgg ggggtcctca tctgcaaagc atggagagtg gcatcttctt
     2101 tgcatcctaa ggacgaaaaa cacagtgcac tcagagctgc tgaggacaat gtctggctga
     2161 agcccgcttt cagcacgccg taaccagggg ctgacaatgc gaggtcgcaa ctgagatctc
     2221 catgactgtg tgttgtgaaa taaaatggtg aaagatca
//
