LOCUS       NM_001734               2682 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens complement C1s (C1S), transcript variant 2, mRNA.
ACCESSION   NM_001734
VERSION     NM_001734.5
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 2682)
  AUTHORS   Yuan,D., Zheng,Z., Shen,C., Ye,J. and Zhu,L.
  TITLE     Cytoprotective effects of C1s enzyme in macrophages in
            atherosclerosis mediated through the LRP5 and Wnt/beta-catenin
            pathway
  JOURNAL   Mol Immunol 166, 29-38 (2024)
   PUBMED   38218080
  REMARK    GeneRIF: Cytoprotective effects of C1s enzyme in macrophages in
            atherosclerosis mediated through the LRP5 and Wnt/beta-catenin
            pathway.
REFERENCE   2  (bases 1 to 2682)
  AUTHORS   Alshekaili,J., Nasr,I., Al-Rawahi,M., Ansari,Z., Al Rahbi,N., Al
            Balushi,H., Al-Zadjali,S., Al Kindi,M., Al-Maawali,A. and Cook,M.C.
  TITLE     A homozygous loss-of-function C1S mutation is associated with
            Kikuchi-Fujimoto disease
  JOURNAL   Clin Immunol 252, 109646 (2023)
   PUBMED   37209807
  REMARK    GeneRIF: A homozygous loss-of-function C1S mutation is associated
            with Kikuchi-Fujimoto disease.
REFERENCE   3  (bases 1 to 2682)
  AUTHORS   Amberger,A., Pertoll,J., Traunfellner,P., Kapferer-Seebacher,I.,
            Stoiber,H., Klimaschewski,L., Thielens,N., Gaboriaud,C. and
            Zschocke,J.
  TITLE     Degradation of collagen I by activated C1s in periodontal
            Ehlers-Danlos Syndrome
  JOURNAL   Front Immunol 14, 1157421 (2023)
   PUBMED   36960056
  REMARK    GeneRIF: Degradation of collagen I by activated C1s in periodontal
            Ehlers-Danlos Syndrome.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2682)
  AUTHORS   Zwarthoff,S.A., Widmer,K., Kuipers,A., Strasser,J., Ruyken,M.,
            Aerts,P.C., de Haas,C.J.C., Ugurlar,D., den Boer,M.A.,
            Vidarsson,G., van Strijp,J.A.G., Gros,P., Parren,P.W.H.I., van
            Kessel,K.P.M., Preiner,J., Beurskens,F.J., Schuurman,J., Ricklin,D.
            and Rooijakkers,S.H.M.
  TITLE     C1q binding to surface-bound IgG is stabilized by C1r2s2 proteases
  JOURNAL   Proc Natl Acad Sci U S A 118 (26) (2021)
   PUBMED   34155115
  REMARK    GeneRIF: C1q binding to surface-bound IgG is stabilized by C1r2s2
            proteases.
REFERENCE   5  (bases 1 to 2682)
  AUTHORS   Amano,M.T., Ferriani,V.P., Florido,M.P., Reis,E.S., Delcolli,M.I.,
            Azzolini,A.E., Assis-Pandochi,A.I., Sjoholm,A.G., Farah,C.S.,
            Jensenius,J.C. and Isaac,L.
  TITLE     Genetic analysis of complement C1s deficiency associated with
            systemic lupus erythematosus highlights alternative splicing of
            normal C1s gene
  JOURNAL   Mol Immunol 45 (6), 1693-1702 (2008)
   PUBMED   18062908
  REMARK    GeneRIF: There are splice variants of C1s mRNA transcripts in
            normal human cells
REFERENCE   6  (bases 1 to 2682)
  AUTHORS   Kapferer-Seebacher,I., van Dijk,F.S. and Zschocke,J.
  TITLE     Periodontal Ehlers-Danlos Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   34324282
REFERENCE   7  (bases 1 to 2682)
  AUTHORS   Luo,C., Thielens,N.M., Gagnon,J., Gal,P., Sarvari,M., Tseng,Y.,
            Tosi,M., Zavodszky,P., Arlaud,G.J. and Schumaker,V.N.
  TITLE     Recombinant human complement subcomponent C1s lacking
            beta-hydroxyasparagine, sialic acid, and one of its two
            carbohydrate chains still reassembles with C1q and C1r to form a
            functional C1 complex
  JOURNAL   Biochemistry 31 (17), 4254-4262 (1992)
   PUBMED   1533159
REFERENCE   8  (bases 1 to 2682)
  AUTHORS   Illy,C., Thielens,N.M., Gagnon,J. and Arlaud,G.J.
  TITLE     Effect of lactoperoxidase-catalyzed iodination on the
            Ca(2+)-dependent interactions of human C1s. Location of the
            iodination sites
  JOURNAL   Biochemistry 30 (29), 7135-7141 (1991)
   PUBMED   1854725
REFERENCE   9  (bases 1 to 2682)
  AUTHORS   Ziccardi,R.J. and Cooper,N.R.
  TITLE     Activation of C1r by proteolytic cleavage
  JOURNAL   J Immunol 116 (2), 504-509 (1976)
   PUBMED   1249422
REFERENCE   10 (bases 1 to 2682)
  AUTHORS   Ziccardi,R.J. and Cooper,N.R.
  TITLE     Physicochemical and functional characterization of the C1r subunit
            of the first complement component
  JOURNAL   J Immunol 116 (2), 496-503 (1976)
   PUBMED   814163
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA638990.1, BC056903.1 and
            J04080.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001734.4.
            
            Summary: This gene encodes a serine protease, which is a major
            constituent of the human complement subcomponent C1. C1s associates
            with two other complement components C1r and C1q in order to yield
            the first component of the serum complement system. Defects in this
            gene are the cause of selective C1s deficiency. [provided by
            RefSeq, Mar 2009].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Both variants 1 and 2 encode the same 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 :: SRR5189667.179704.1,
                                           SRR1803611.194717.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360817.10/ ENSP00000354057.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-39                DA638990.1         204-242
            40-160              BC056903.1         22-142
            161-176             J04080.1           130-145
            177-2682            BC056903.1         246-2751
FEATURES             Location/Qualifiers
     source          1..2682
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2682
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /note="complement C1s"
                     /db_xref="GeneID:716"
                     /db_xref="HGNC:HGNC:1247"
                     /db_xref="MIM:120580"
     exon            1..160
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            161..239
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             235..2301
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /EC_number="3.4.21.42"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 2; complement C1s subcomponent; basic proline-rich
                     peptide IB-1; C1 esterase; complement component 1
                     subcomponent s; complement component 1, s subcomponent"
                     /codon_start=1
                     /product="complement C1s subcomponent isoform 1
                     preproprotein"
                     /protein_id="NP_001725.1"
                     /db_xref="CCDS:CCDS31735.1"
                     /db_xref="GeneID:716"
                     /db_xref="HGNC:HGNC:1247"
                     /db_xref="MIM:120580"
                     /translation="MWCIVLFSLLAWVYAEPTMYGEILSPNYPQAYPSEVEKSWDIEV
                     PEGYGIHLYFTHLDIELSENCAYDSVQIISGDTEEGRLCGQRSSNNPHSPIVEEFQVP
                     YNKLQVIFKSDFSNEERFTGFAAYYVATDINECTDFVDVPCSHFCNNFIGGYFCSCPP
                     EYFLHDDMKNCGVNCSGDVFTALIGEIASPNYPKPYPENSRCEYQIRLEKGFQVVVTL
                     RREDFDVEAADSAGNCLDSLVFVAGDRQFGPYCGHGFPGPLNIETKSNALDIIFQTDL
                     TGQKKGWKLRYHGDPMPCPKEDTPNSVWEPAKAKYVFRDVVQITCLDGFEVVEGRVGA
                     TSFYSTCQSNGKWSNSKLKCQPVDCGIPESIENGKVEDPESTLFGSVIRYTCEEPYYY
                     MENGGGGEYHCAGNGSWVNEVLGPELPKCVPVCGVPREPFEEKQRIIGGSDADIKNFP
                     WQVFFDNPWAGGALINEYWVLTAAHVVEGNREPTMYVGSTSVQTSRLAKSKMLTPEHV
                     FIHPGWKLLEVPEGRTNFDNDIALVRLKDPVKMGPTVSPICLPGTSSDYNLMDGDLGL
                     ISGWGRTEKRDRAVRLKAARLPVAPLRKCKEVKVEKPTADAEAYVFTPNMICAGGEKG
                     MDSCKGDSGGAFAVQDPNDKTKFYAAGLVSWGPQCGTYGLYTRVKNYVDWIMKTMQEN
                     STPRED"
     exon            240..447
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            448..625
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            626..751
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            752..951
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            952..1105
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1221
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1300
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1429
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1430..1504
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..2682
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2660..2665
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /note="hexamer: AATAAA"
     polyA_site      2682
                     /gene="C1S"
                     /gene_synonym="EDSPD2"
                     /note="major polyA site"
ORIGIN      
        1 atcttatgaa cagaaccagg acagggaggc tggccggagg ttcctgcaga gggagcgtca
       61 aggccctgtg ctgctgtccc tgggggccag aggggttgcc cagcatgccc actggcagga
      121 gagagggaac tgacccactt gctcctacca gcttctgaag gctccaaagt ccggaggtgc
      181 agaaagccag gaccaagaga caggcagctc accagggtgg acaaatcgcc agagatgtgg
      241 tgcattgtcc tgttttcact tttggcatgg gtttatgctg agcctaccat gtatggggag
      301 atcctgtccc ctaactatcc tcaggcatat cccagtgagg tagagaaatc ttgggacata
      361 gaagttcctg aagggtatgg gattcacctc tacttcaccc atctggacat tgagctgtca
      421 gagaactgtg cgtatgactc agtgcagata atctcaggag acactgaaga agggaggctc
      481 tgtggacaga ggagcagtaa caatccccac tctccaattg tggaagagtt ccaagtccca
      541 tacaacaaac tccaggtgat ctttaagtca gacttttcca atgaagagcg ttttacgggg
      601 tttgctgcat actatgttgc cacagacata aatgaatgca cagattttgt agatgtccct
      661 tgtagccact tctgcaacaa tttcattggt ggttacttct gctcctgccc cccggaatat
      721 ttcctccatg atgacatgaa gaattgcgga gttaattgca gtggggatgt attcactgca
      781 ctgattgggg agattgcaag tcccaattat cccaaaccat atccagagaa ctcaaggtgt
      841 gaataccaga tccggttgga gaaagggttc caagtggtgg tgaccttgcg gagagaagat
      901 tttgatgtgg aagcagctga ctcagcggga aactgccttg acagtttagt ttttgttgca
      961 ggagatcggc aatttggtcc ttactgtggt catggattcc ctgggcctct aaatattgaa
     1021 accaagagta atgctcttga tatcatcttc caaactgatc taacagggca aaaaaagggc
     1081 tggaaacttc gctatcatgg agatccaatg ccctgcccta aggaagacac tcccaattct
     1141 gtttgggagc ctgcgaaggc aaaatatgtc tttagagatg tggtgcagat aacctgtctg
     1201 gatgggtttg aagttgtgga gggacgtgtt ggtgcaacat ctttctattc gacttgtcaa
     1261 agcaatggaa agtggagtaa ttccaaactg aaatgtcaac ctgtggactg tggcattcct
     1321 gaatccattg agaatggtaa agttgaagac ccagagagca ctttgtttgg ttctgtcatc
     1381 cgctacactt gtgaggagcc atattactac atggaaaatg gaggaggtgg ggagtatcac
     1441 tgtgctggta acgggagctg ggtgaatgag gtgctgggcc cggagctgcc gaaatgtgtt
     1501 ccagtctgtg gagtccccag agaacccttt gaagaaaaac agaggataat tggaggatcc
     1561 gatgcagata ttaaaaactt cccctggcaa gtcttctttg acaacccatg ggctggtgga
     1621 gcgctcatta atgagtactg ggtgctgacg gctgctcatg ttgtggaggg aaacagggag
     1681 ccaacaatgt atgttgggtc cacctcagtg cagacctcac ggctggcaaa atccaagatg
     1741 ctcactcctg agcatgtgtt tattcatccg ggatggaagc tgctggaagt cccagaagga
     1801 cgaaccaatt ttgataatga cattgcactg gtgcggctga aagacccagt gaaaatggga
     1861 cccaccgtct ctcccatctg cctaccaggc acctcttccg actacaacct catggatggg
     1921 gacctgggac tgatctcagg ctggggccga acagagaaga gagatcgtgc tgttcgcctc
     1981 aaggcggcaa ggttacctgt agctccttta agaaaatgca aagaagtgaa agtggagaaa
     2041 cccacagcag atgcagaggc ctatgttttc actcctaaca tgatctgtgc tggaggagag
     2101 aagggcatgg atagctgtaa aggggacagt ggtggggcct ttgctgtaca ggatcccaat
     2161 gacaagacca aattctacgc agctggcctg gtgtcctggg ggccccagtg tgggacctat
     2221 gggctctaca cacgggtaaa gaactatgtt gactggataa tgaagactat gcaggaaaat
     2281 agcacccccc gtgaggacta atccagatac atcccaccag cctctccaag ggtggtgacc
     2341 aatgcattac cttctgttcc ttatgatatt ctcattattt catcatgact gaaagaagac
     2401 acgagcgaat gatttaaata gaacttgatt gttgagacgc cttgctagag gtagagtttg
     2461 atcatagaat tgtgctggtc atacatttgt ggtctgactc cttggggtcc tttccccgga
     2521 gtacctattg tagataacac tatgggtggg gcactccttt cttgcactat tccacaggga
     2581 taccttaatt ctttgtttcc tctttacctg ttcaaaattc catttacttg atcattctca
     2641 gtatccactg tctatgtaca ataaaggatg tttataagca aa
//
