LOCUS       NM_001102416            4198 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.
ACCESSION   NM_001102416
VERSION     NM_001102416.3
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 4198)
  AUTHORS   Yi,J., Bertels,Z., Del Rosario,J.S., Widman,A.J., Slivicki,R.A.,
            Payne,M., Susser,H.M., Copits,B.A. and Gereau,R.W. 4th.
  TITLE     Bradykinin receptor expression and bradykinin-mediated
            sensitization of human sensory neurons
  JOURNAL   Pain 165 (1), 202-215 (2024)
   PUBMED   37703419
  REMARK    GeneRIF: Bradykinin receptor expression and bradykinin-mediated
            sensitization of human sensory neurons.
REFERENCE   2  (bases 1 to 4198)
  AUTHORS   Zhang,B., Han,H., Zhao,X., Li,A.N., Wang,Y., Yuan,W., Yang,Z. and
            Li,M.D.
  TITLE     An HBV susceptibility variant of KNG1 modulates the therapeutic
            effects of interferons alpha and lambda1 in HBV infection by
            promoting MAVS lysosomal degradation
  JOURNAL   EBioMedicine 94, 104694 (2023)
   PUBMED   37442062
  REMARK    GeneRIF: An HBV susceptibility variant of KNG1 modulates the
            therapeutic effects of interferons alpha and lambda1 in HBV
            infection by promoting MAVS lysosomal degradation.
REFERENCE   3  (bases 1 to 4198)
  AUTHORS   Guan,X., Li,L., Li,J., Jiang,W., Li,H., Wang,X., Han,L., Liu,Y.,
            Gong,M. and Zhang,H.
  TITLE     High preoperative bradykinin level is a risk factor for severe
            postoperative hypoxaemia in acute aortic dissection surgery
  JOURNAL   Exp Physiol 108 (5), 683-691 (2023)
   PUBMED   36934370
  REMARK    GeneRIF: High preoperative bradykinin level is a risk factor for
            severe postoperative hypoxaemia in acute aortic dissection surgery.
REFERENCE   4  (bases 1 to 4198)
  AUTHORS   Fandaros,M., Joseph,K., Kaplan,A.P., Rubenstein,D.A.,
            Ghebrehiwet,B. and Yin,W.
  TITLE     gC1qR Antibody Can Modulate Endothelial Cell Permeability in
            Angioedema
  JOURNAL   Inflammation 45 (1), 116-128 (2022)
   PUBMED   34494203
  REMARK    GeneRIF: gC1qR Antibody Can Modulate Endothelial Cell Permeability
            in Angioedema.
REFERENCE   5  (bases 1 to 4198)
  AUTHORS   Henderson,M.W., Sparkenbaugh,E.M., Wang,S., Ilich,A.,
            Noubouossie,D.F., Mailer,R., Renne,T., Flick,M.J., Luyendyk,J.P.,
            Chen,Z.L., Strickland,S., Stravitz,R.T., McCrae,K.R., Key,N.S. and
            Pawlinski,R.
  TITLE     Plasmin-mediated cleavage of high-molecular-weight kininogen
            contributes to acetaminophen-induced acute liver failure
  JOURNAL   Blood 138 (3), 259-272 (2021)
   PUBMED   33827130
  REMARK    GeneRIF: Plasmin-mediated cleavage of high-molecular-weight
            kininogen contributes to acetaminophen-induced acute liver failure.
REFERENCE   6  (bases 1 to 4198)
  AUTHORS   Cagliani,R., Forni,D., Riva,S., Pozzoli,U., Colleoni,M.,
            Bresolin,N., Clerici,M. and Sironi,M.
  TITLE     Evolutionary analysis of the contact system indicates that
            kininogen evolved adaptively in mammals and in human populations
  JOURNAL   Mol Biol Evol 30 (6), 1397-1408 (2013)
   PUBMED   23505046
  REMARK    GeneRIF: The antimicrobial protein kininogen evolved adaptively in
            mammals and human populations.
REFERENCE   7  (bases 1 to 4198)
  AUTHORS   Hess,J.F., Borkowski,J.A., Young,G.S., Strader,C.D. and Ransom,R.W.
  TITLE     Cloning and pharmacological characterization of a human bradykinin
            (BK-2) receptor
  JOURNAL   Biochem Biophys Res Commun 184 (1), 260-268 (1992)
   PUBMED   1314587
REFERENCE   8  (bases 1 to 4198)
  AUTHORS   Kerbiriou,D.M. and Griffin,J.H.
  TITLE     Human high molecular weight kininogen. Studies of
            structure-function relationships and of proteolysis of the molecule
            occurring during contact activation of plasma
  JOURNAL   J Biol Chem 254 (23), 12020-12027 (1979)
   PUBMED   500690
REFERENCE   9  (bases 1 to 4198)
  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   10 (bases 1 to 4198)
  AUTHORS   Colman,R.W., Bagdasarian,A., Talamo,R.C., Scott,C.F., Seavey,M.,
            Guimaraes,J.A., Pierce,J.V. and Kaplan,A.P.
  TITLE     Williams trait. Human kininogen deficiency with diminished levels
            of plasminogen proactivator and prekallikrein associated with
            abnormalities of the Hageman factor-dependent pathways
  JOURNAL   J Clin Invest 56 (6), 1650-1662 (1975)
   PUBMED   1202089
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC362362.1, AC109780.7,
            K02566.1 and AC112907.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 9, 2018 this sequence version replaced NM_001102416.2.
            
            Summary: This gene uses alternative splicing to generate two
            different proteins- high molecular weight kininogen (HMWK) and low
            molecular weight kininogen (LMWK). HMWK is essential for blood
            coagulation and assembly of the kallikrein-kinin system. Also,
            bradykinin, a peptide causing numerous physiological effects, is
            released from HMWK. Bradykinin also functions as an antimicrobial
            peptide with antibacterial and antifungal activity. In contrast to
            HMWK, LMWK is not involved in blood coagulation. Infection with
            severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
            reduces or depletes angiotensin converting enzyme 2 (ACE2), which
            results in an increase in levels of des-Arg(9)-bradykinin, a
            bioactive metabolite of bradykinin that is associated with lung
            injury and inflammation. Three transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2020].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1), also known as high
            molecular weight preprokininogen.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK303768.1, SRR14038193.1074109.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            coronavirus related                :: relevant for disease process
            MANE Ensembl match                 :: ENST00000644859.2/
                                                  ENSP00000493985.1
            Protein has antimicrobial activity :: PMID: 23505046
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-222               DC362362.1         51-272
            223-223             AC109780.7         58009-58009
            224-1387            K02566.1           89-1252
            1388-4198           AC112907.7         105128-107938       c
FEATURES             Location/Qualifiers
     source          1..4198
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q27.3"
     gene            1..4198
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /note="kininogen 1"
                     /db_xref="GeneID:3827"
                     /db_xref="HGNC:HGNC:6383"
                     /db_xref="MIM:612358"
     exon            1..379
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..2119
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; alpha-2-thiol proteinase inhibitor; bradykinin;
                     fitzgerald factor; high molecular weight kininogen;
                     williams-Fitzgerald-Flaujeac factor"
                     /codon_start=1
                     /product="kininogen-1 isoform 1 precursor"
                     /protein_id="NP_001095886.1"
                     /db_xref="CCDS:CCDS43183.1"
                     /db_xref="GeneID:3827"
                     /db_xref="HGNC:HGNC:6383"
                     /db_xref="MIM:612358"
                     /translation="MKLITILFLCSRLLLSLTQESQSEEIDCNDKDLFKAVDAALKKY
                     NSQNQSNNQFVLYRITEATKTVGSDTFYSFKYEIKEGDCPVQSGKTWQDCEYKDAAKA
                     ATGECTATVGKRSSTKFSVATQTCQITPAEGPVVTAQYDCLGCVHPISTQSPDLEPIL
                     RHGIQYFNNNTQHSSLFMLNEVKRAQRQVVAGLNFRITYSIVQTNCSKENFLFLTPDC
                     KSLWNGDTGECTDNAYIDIQLRIASFSQNCDIYPGKDFVQPPTKICVGCPRDIPTNSP
                     ELEETLTHTITKLNAENNATFYFKIDNVKKARVQVVAGKKYFIDFVARETTCSKESNE
                     ELTESCETKKLGQSLDCNAEVYVVPWEKKIYPTVNCQPLGMISLMKRPPGFSPFRSSR
                     IGEIKEETTVSPPHTSMAPAQDEERDSGKEQGHTRRHDWGHEKQRKHNLGHGHKHERD
                     QGHGHQRGHGLGHGHEQQHGLGHGHKFKLDDDLEHQGGHVLDHGHKHKHGHGHGKHKN
                     KGKKNGKHNGWKTEHLASSSEDSTTPSAQTQEKTEGPTPIPSLAKPGVTVTFSDFQDS
                     DLIATMMPPISPAPIQSDDDWIPDIQIDPNGLSFNPISDFPDTTSPKCPGRPWKSVSE
                     INPTTQMKESYYFDLTDGLS"
     exon            380..490
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            491..575
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            576..748
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            749..856
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            857..941
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1114
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..1222
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            1223..1309
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..4198
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3380..3385
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /note="hexamer: AATAAA"
     polyA_site      3407
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
     regulatory      3711..3716
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /note="hexamer: AATAAA"
     polyA_site      3736
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /note="major polyA site"
     regulatory      4176..4181
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
                     /note="hexamer: AATAAA"
     polyA_site      4196
                     /gene="KNG1"
                     /gene_synonym="BDK; BK; HAE6; HK; HMWK; KNG"
ORIGIN      
        1 atttaacctt tgggaacaag gcaactagcg tctggcagca ggaatccaac cagtgccctg
       61 agttctgagg cagagaggag gacagaagaa acaagaggct ggagattgtc aaattcagta
      121 tcccagttgg ctcttgattc ttggtgaaac catccctcag ctcctagagg gagattgtta
      181 gatcatgaaa ctaattacca tccttttcct ctgctccagg ctgctactaa gtttaaccca
      241 ggaatcacag tccgaggaaa ttgactgcaa tgacaaggat ttatttaaag ctgtggatgc
      301 tgctctgaag aaatataaca gtcaaaacca aagtaacaac cagtttgtat tgtaccgcat
      361 aactgaagcc actaagacgg ttggctctga cacgttttat tccttcaagt acgaaatcaa
      421 ggagggggat tgtcctgttc aaagtggcaa aacctggcag gactgtgagt acaaggatgc
      481 tgcaaaagca gccactggag aatgcacggc aaccgtgggg aagaggagca gtacgaaatt
      541 ctccgtggct acccagacct gccagattac tccagccgag ggccctgtgg tgacagccca
      601 gtacgactgc ctcggctgtg tgcatcctat atcaacgcag agcccagacc tggagcccat
      661 tctgagacac ggcattcagt actttaacaa caacactcaa cattcctccc tcttcatgct
      721 taatgaagta aaacgggccc aaagacaggt ggtggctgga ttgaactttc gaattaccta
      781 ctcaattgtg caaacgaatt gttccaaaga gaattttctg ttcttaactc cagactgcaa
      841 gtccctttgg aatggtgata ccggtgaatg tacagataat gcatacatcg atattcagct
      901 acgaattgct tccttctcac agaactgtga catttatcca gggaaggatt ttgtacaacc
      961 acctaccaag atttgcgtgg gctgccccag agatataccc accaacagcc cagagctgga
     1021 ggagacactg actcacacca tcacaaagct taatgcagag aataacgcaa ctttctattt
     1081 caagattgac aatgtgaaaa aagcaagagt acaggtggtg gctggcaaga aatattttat
     1141 tgacttcgtg gccagggaaa ccacatgttc caaggaaagt aatgaagagt tgaccgaaag
     1201 ctgtgagacc aaaaaacttg gccaaagcct agattgcaac gctgaagttt atgtggtacc
     1261 ctgggagaaa aaaatttacc ctactgtcaa ctgtcaacca ctgggaatga tctcactgat
     1321 gaaaaggcct ccaggttttt cacctttccg atcatcacga ataggggaaa taaaagaaga
     1381 aacaactgta agtccacccc acacttccat ggcacctgca caagatgaag agcgggattc
     1441 aggaaaagaa caagggcata ctcgtagaca tgactggggc catgaaaaac aaagaaaaca
     1501 taatcttggc catggccata aacatgaacg tgaccaaggg catgggcacc aaagaggaca
     1561 tggccttggc catggacacg aacaacagca tggtcttggt catggacata agttcaaact
     1621 tgatgatgat cttgaacacc aagggggcca tgtccttgac catggacata agcataagca
     1681 tggtcatggc cacggaaaac ataaaaataa aggcaaaaag aatggaaagc acaatggttg
     1741 gaaaacagag catttggcaa gctcttctga agacagtact acaccttctg cacagacaca
     1801 agagaagaca gaagggccaa cacccatccc ttccctagcc aagccaggtg taacagttac
     1861 cttttctgac tttcaggact ctgatctcat tgcaactatg atgcctccta tatcaccagc
     1921 tcccatacag agtgatgacg attggatccc tgatatccag atagacccaa atggcctttc
     1981 atttaaccca atatcagatt ttccagacac gacctcccca aaatgtcctg gacgcccctg
     2041 gaagtcagtt agtgaaatta atccaaccac acaaatgaaa gaatcttatt atttcgatct
     2101 cactgatggc ctttcttaat ttaagtggct atgggtattt ctttcatact ttattaaagt
     2161 atcaatatcc ctctctccat tgtccagatg aaaatatcct gatataatgc accaaaaacc
     2221 atgcagcttc ggaacagtct aaagagaagt ggtgagactc ccagtggaga caccatcagt
     2281 ctccacggac tgcataaaat tgtgtgccac aattctaact cttttctgaa tcttcttccc
     2341 aagttttcta aactagcaca gtaaacagac aaactaatgt gccgtatggc ctgctgcaat
     2401 tggcttctct gataacaaat atgtacctta caacatatgt catgaatttg catacaaaga
     2461 ttcttgtcat tcttaataaa ctgtggcact tggtatttga atgtgtgtga aaataaggga
     2521 agtcaagaga ttaaatgctg aacttattaa tggaatagaa ataataagga ggctgaggct
     2581 ggagaattgc ttgaacccgg gaggcggagg ttgcagtgag ccgagatcgt gccactgcgc
     2641 tccagcctgg gcatcagagc aagattctgt ctcagaaaaa aagaaaaaaa aagaaataat
     2701 aagaaaaact tccagatttc aaagtaacaa gaaagaagac aggttggcca aagggaggaa
     2761 aggggggaca taaattaatt gactttctat tcccaaaatg ggctagttat atcaaataaa
     2821 tactcccact gccctttctg agtgagagtg tttctcataa gtcaaaaatt tctgtttact
     2881 cattaactac tctttgcaac aggctttcat atagaagtat tctgtttatt tttgctgagc
     2941 ctagattgag taattcttag tttacagaag ctccgagctt aatgataagg atgaaaagca
     3001 gagggagcaa tatagaagca ggcttgctaa taaaactttt taaataattg acaagggaat
     3061 attatggaat gtgatgcaaa gtttgttccg aaattttatg aggaaattac tctctagtct
     3121 cactttatag tctttttgct atgactttga agaccattga tttttgagaa gcagaataat
     3181 aggattgcct ttcattgccc tatagtgcaa agaaggtata tgctttataa ccaatgttgt
     3241 acttttgcct agaaaaacaa gatatggctt taaatagcta caatcatctt tggatgtata
     3301 tgtcactgct gcttcaagtt attggatgca tttgaacctc tgagtttgtc tttcatttta
     3361 aatattgtct gttcttttaa ataaacaacc acagatgtca ggaaaaagtc ttaccttgtc
     3421 aactggttgc tccacttttt aaaaatgatt gaatgataac atcatattaa ctgcgtttta
     3481 ctatacttac agagtcacct aaggtcctgc gagtacaagg gtcgaccccc aaaggcaggg
     3541 gcagagccag catctgagag ggaggtctct tgaccaatgg gcagaatctt cactccaggc
     3601 acatagcccc aaccacctct gccagcaacc ttgagaggaa ggacaagaag aaagatggga
     3661 tagaatttaa atagagaaga atgccatttt atcactctgc ctctgggtga aataaagatc
     3721 agtcttgatg ttctaactct aattcacagt ggtctccttt cagccctacc cattctgcag
     3781 caaattccag ctggtcagag agtcagtgct gtggctctgc catggaggct cataacccaa
     3841 cactggaaca ttccctagcc aaggcagaag tccttaggcg ggacttcctt accaccacgg
     3901 gtgctaaaag aagagttagt aggtcatgct tctaccagta atctaaggac tctctccttc
     3961 tcttcttcct ctttctccag atttccaagc cttagctaag agtaatttgg cttgtttagt
     4021 attgttttct tatggtccag ttaattacca aaaatatttt taaaatcatc tctgttaata
     4081 gaatgtctac caacttctca ctatcagaaa atactcaacc tccaaacaat ttgaaattat
     4141 ctttctgatc caggtaaaga agcaaattga aaatcaataa agtaaaaagt gacggaga
//
