LOCUS       NM_000062               1830 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens serpin family G member 1 (SERPING1), transcript
            variant 1, mRNA.
ACCESSION   NM_000062
VERSION     NM_000062.3
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 1830)
  AUTHORS   Long,L.H., Fujioka,T., Craig,T.J. and Hitomi,H.
  TITLE     Long term outcome of C1-esterase inhibitor deficiency
  JOURNAL   Asian Pac J Allergy Immunol 42 (3), 222-232 (2024)
   PUBMED   38877850
  REMARK    GeneRIF: Long term outcome of C1-esterase inhibitor deficiency.
            Review article
REFERENCE   2  (bases 1 to 1830)
  AUTHORS   Zanichelli,A., Senter,R., Merlo,A., Gidaro,A., Popescu Janu,V.,
            Cogliati,C.B. and Cancian,M.
  TITLE     Comorbidities in Angioedema Due to C1-Inhibitor Deficiency: An
            Italian Survey
  JOURNAL   J Allergy Clin Immunol Pract 12 (4), 1029-1036 (2024)
   PUBMED   38182098
  REMARK    GeneRIF: Comorbidities in Angioedema Due to C1-Inhibitor
            Deficiency: An Italian Survey.
REFERENCE   3  (bases 1 to 1830)
  AUTHORS   Zagkos,L., Dib,M.J., Cronje,H.T., Elliott,P., Dehghan,A.,
            Tzoulaki,I., Gill,D. and Daghlas,I.
  TITLE     Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels Affect
            Cognitive Performance: Evidence from Proteome-Wide Mendelian
            Randomization
  JOURNAL   Genes (Basel) 15 (1), 71 (2024)
   PUBMED   38254961
  REMARK    GeneRIF: Cerebrospinal Fluid C1-Esterase Inhibitor and Tie-1 Levels
            Affect Cognitive Performance: Evidence from Proteome-Wide Mendelian
            Randomization.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1830)
  AUTHORS   Trainotti,S., Johnson,F., Hahn,J., Hofauer,B., Greve,J.,
            Wollenberg,B., Hoffmann,T.K. and Lochbaum,R.
  TITLE     Acquired Angioedema Due to C1-Inhibitor Deficiency (AAE-C1-INH)-A
            Bicenter Retrospective Study on Diagnosis, Course, and Therapy
  JOURNAL   J Allergy Clin Immunol Pract 11 (12), 3772-3779 (2023)
   PUBMED   37716525
  REMARK    GeneRIF: Acquired Angioedema Due to C1-Inhibitor Deficiency
            (AAE-C1-INH)-A Bicenter Retrospective Study on Diagnosis, Course,
            and Therapy.
REFERENCE   5  (bases 1 to 1830)
  AUTHORS   Grombirikova,H., Bily,V., Soucek,P., Kramarek,M., Hakl,R.,
            Ballonova,L., Ravcukova,B., Ricna,D., Kozena,K., Kratochvilova,L.,
            Sobotkova,M., Zachova,R., Kuklinek,P., Kralickova,P., Krcmova,I.,
            Hanzlikova,J., Vachova,M., Krystufkova,O., Dankova,E., Jesenak,M.,
            Novackova,M., Svoboda,M., Litzman,J. and Freiberger,T.
  TITLE     Systematic Approach Revealed SERPING1 Splicing-Affecting Variants
            to be Highly Represented in the Czech National HAE Cohort
  JOURNAL   J Clin Immunol 43 (8), 1974-1991 (2023)
   PUBMED   37620742
  REMARK    GeneRIF: Systematic Approach Revealed SERPING1 Splicing-Affecting
            Variants to be Highly Represented in the Czech National HAE Cohort.
REFERENCE   6  (bases 1 to 1830)
  AUTHORS   Davis,A.E. 3rd, Aulak,K., Parad,R.B., Stecklein,H.P., Eldering,E.,
            Hack,C.E., Kramer,J., Strunk,R.C., Bissler,J. and Rosen,F.S.
  TITLE     C1 inhibitor hinge region mutations produce dysfunction by
            different mechanisms
  JOURNAL   Nat Genet 1 (5), 354-358 (1992)
   PUBMED   1363816
REFERENCE   7  (bases 1 to 1830)
  AUTHORS   Frangi,D., Aulak,K.S., Cicardi,M., Harrison,R.A. and Davis,A.E.
            3rd.
  TITLE     A dysfunctional C1 inhibitor protein with a new reactive center
            mutation (Arg-444-->Leu)
  JOURNAL   FEBS Lett 301 (1), 34-36 (1992)
   PUBMED   1451784
REFERENCE   8  (bases 1 to 1830)
  AUTHORS   Lappin,D.F., Guc,D., Hill,A., McShane,T. and Whaley,K.
  TITLE     Effect of interferon-gamma on complement gene expression in
            different cell types
  JOURNAL   Biochem J 281 (Pt 2) (Pt 2), 437-442 (1992)
   PUBMED   1531292
REFERENCE   9  (bases 1 to 1830)
  AUTHORS   Siddique,Z., McPhaden,A.R., McCluskey,D. and Whaley,K.
  TITLE     A single base deletion from the C1-inhibitor gene causes type I
            hereditary angio-oedema
  JOURNAL   Hum Hered 42 (4), 231-234 (1992)
   PUBMED   1339401
REFERENCE   10 (bases 1 to 1830)
  AUTHORS   Siddique,Z., McPhaden,A.R., Lappin,D.F. and Whaley,K.
  TITLE     An RNA splice site mutation in the C1-inhibitor gene causes type I
            hereditary angio-oedema
  JOURNAL   Hum Genet 88 (2), 231-232 (1991)
   PUBMED   1684567
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL703442.1, AP002893.3,
            AP000662.4 and BQ183346.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000062.2.
            
            Summary: This gene encodes a highly glycosylated plasma protein
            involved in the regulation of the complement cascade. Its encoded
            protein, C1 inhibitor, inhibits activated C1r and C1s of the first
            complement component and thus regulates complement activation. It
            is synthesized in the liver, and its deficiency is associated with
            hereditary angioneurotic oedema (HANE). Alternative splicing
            results in multiple transcript variants encoding the same isoform.
            [provided by RefSeq, May 2020].
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            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 :: AK312626.1, SRR14038192.2770211.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278407.9/ ENSP00000278407.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-348               AL703442.1         177-524
            349-610             AP002893.3         170613-170874
            611-745             AP002893.3         172532-172666
            746-949             AP000662.4         1490-1693
            950-1089            AP000662.4         1888-2027
            1090-1309           AP000662.4         7197-7416
            1310-1815           AP000662.4         9808-10313
            1816-1830           BQ183346.1         24-38               c
FEATURES             Location/Qualifiers
     source          1..1830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q12.1"
     gene            1..1830
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="serpin family G member 1"
                     /db_xref="GeneID:710"
                     /db_xref="HGNC:HGNC:1228"
                     /db_xref="MIM:606860"
     exon            1..38
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     exon            39..111
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     CDS             61..1563
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="plasma protease C1 inhibitor; complement component
                     1 inhibitor; serpin peptidase inhibitor clade G member 1;
                     C1-inhibitor; epididymis secretory sperm binding protein;
                     serine/cysteine proteinase inhibitor clade G member 1;
                     serpin G1; C1-inhibiting factor; C1 esterase inhibitor;
                     serpin peptidase inhibitor, clade G (C1 inhibitor), member
                     1"
                     /codon_start=1
                     /product="plasma protease C1 inhibitor precursor"
                     /protein_id="NP_000053.2"
                     /db_xref="CCDS:CCDS7962.1"
                     /db_xref="GeneID:710"
                     /db_xref="HGNC:HGNC:1228"
                     /db_xref="MIM:606860"
                     /translation="MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGK
                     VATTVISKMLFVEPILEVSSLPTTNSTTNSATKITANTTDEPTTQPTTEPTTQPTIQP
                     TQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEAVLGDALVDFSLKLYHAFSAM
                     KKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQALKGFTTKGV
                     TSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISR
                     LLDSLPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAH
                     FIDQTLKAKVGQLQLSHNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQ
                     PTLLTLPRIKVTTSQDMLSIMEKLEFFDFSYDLNLCGLTEDPDLQVSAMQHQTVLELT
                     ETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPVFMGRVYDPRA"
     exon            112..610
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     exon            611..745
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     exon            746..949
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1089
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1309
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     exon            1310..1830
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1809..1814
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="hexamer: AATAAA"
     polyA_site      1830
                     /gene="SERPING1"
                     /gene_synonym="C1IN; C1INH; C1NH; HAE1; HAE2"
                     /note="major polyA site"
ORIGIN      
        1 agtctgcact ggagctgcct ggtgaccaga agtttggagt ccgctgacgt cgccgcccag
       61 atggcctcca ggctgaccct gctgaccctc ctgctgctgc tgctggctgg ggatagagcc
      121 tcctcaaatc caaatgctac cagctccagc tcccaggatc cagagagttt gcaagacaga
      181 ggcgaaggga aggtcgcaac aacagttatc tccaagatgc tattcgttga acccatcctg
      241 gaggtttcca gcttgccgac aaccaactca acaaccaatt cagccaccaa aataacagct
      301 aataccactg atgaacccac cacacaaccc accacagagc ccaccaccca acccaccatc
      361 caacccaccc aaccaactac ccagctccca acagattctc ctacccagcc cactactggg
      421 tccttctgcc caggacctgt tactctctgc tctgacttgg agagtcattc aacagaggcc
      481 gtgttggggg atgctttggt agatttctcc ctgaagctct accacgcctt ctcagcaatg
      541 aagaaggtgg agaccaacat ggccttttcc ccattcagca tcgccagcct ccttacccag
      601 gtcctgctcg gggctgggga gaacaccaaa acaaacctgg agagcatcct ctcttacccc
      661 aaggacttca cctgtgtcca ccaggccctg aagggcttca cgaccaaagg tgtcacctca
      721 gtctctcaga tcttccacag cccagacctg gccataaggg acacctttgt gaatgcctct
      781 cggaccctgt acagcagcag ccccagagtc ctaagcaaca acagtgacgc caacttggag
      841 ctcatcaaca cctgggtggc caagaacacc aacaacaaga tcagccggct gctagacagt
      901 ctgccctccg atacccgcct tgtcctcctc aatgctatct acctgagtgc caagtggaag
      961 acaacatttg atcccaagaa aaccagaatg gaaccctttc acttcaaaaa ctcagttata
     1021 aaagtgccca tgatgaatag caagaagtac cctgtggccc atttcattga ccaaactttg
     1081 aaagccaagg tggggcagct gcagctctcc cacaatctga gtttggtgat cctggtaccc
     1141 cagaacctga aacatcgtct tgaagacatg gaacaggctc tcagcccttc tgttttcaag
     1201 gccatcatgg agaaactgga gatgtccaag ttccagccca ctctcctaac actaccccgc
     1261 atcaaagtga cgaccagcca ggatatgctc tcaatcatgg agaaattgga attcttcgat
     1321 ttttcttatg accttaacct gtgtgggctg acagaggacc cagatcttca ggtttctgcg
     1381 atgcagcacc agacagtgct ggaactgaca gagactgggg tggaggcggc tgcagcctcc
     1441 gccatctctg tggcccgcac cctgctggtc tttgaagtgc agcagccctt cctcttcgtg
     1501 ctctgggacc agcagcacaa gttccctgtc ttcatggggc gagtatatga ccccagggcc
     1561 tgagacctgc aggatcaggt tagggcgagc gctacctctc cagcctcagc tctcagttgc
     1621 agccctgctg ctgcctgcct ggacttggcc cctgccacct cctgcctcag gtgtccgcta
     1681 tccaccaaaa gggctccctg agggtctggg caagggacct gcttctatta gcccttctcc
     1741 atggccctgc catgctctcc aaaccacttt ttgcagcttt ctctagttca agttcaccag
     1801 actctataaa taaaacctga cagaccatga
//
