LOCUS       NM_001733               2488 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens complement C1r (C1R), transcript variant 1, mRNA.
ACCESSION   NM_001733 XM_925842 XM_930681
VERSION     NM_001733.7
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 2488)
  AUTHORS   Zhang,Q., Yue,Y., Wang,X., Cui,H., Liu,Y., Gao,M., Liu,T. and
            Xiao,L.
  TITLE     Tandem Mass Tag-Labeled Quantitative Proteome Analyses Identify C1R
            and A2M as Novel Serum Biomarkers in Pregnant Women with
            Obstructive Sleep Apnea
  JOURNAL   J Proteome Res 23 (4), 1232-1248 (2024)
   PUBMED   38407963
  REMARK    GeneRIF: Tandem Mass Tag-Labeled Quantitative Proteome Analyses
            Identify C1R and A2M as Novel Serum Biomarkers in Pregnant Women
            with Obstructive Sleep Apnea.
REFERENCE   2  (bases 1 to 2488)
  AUTHORS   Nakajima,K., Suzuki,H., Yamamoto,M., Yamamoto,T., Kawai,T.,
            Nakabayashi,K., Hata,K., Kosaki,K., Nakajima,H., Sano,S. and
            Kubo,A.
  TITLE     A familial case of periodontal Ehlers-Danlos syndrome lacking skin
            extensibility and joint hypermobility with a missense mutation in
            C1R
  JOURNAL   J Dermatol 49 (7), 714-718 (2022)
   PUBMED   35365885
  REMARK    GeneRIF: A familial case of periodontal Ehlers-Danlos syndrome
            lacking skin extensibility and joint hypermobility with a missense
            mutation in C1R.
REFERENCE   3  (bases 1 to 2488)
  AUTHORS   Wang,X., Yang,G., Wang,Q., Zhao,Y., Ding,K., Ji,C., Shi,Z., Li,H.,
            Li,Y. and Li,S.
  TITLE     C1R, CCL2, and TNFRSF1A Genes in Coronavirus Disease-COVID-19
            Pathway Serve as Novel Molecular Biomarkers of GBM Prognosis and
            Immune Infiltration
  JOURNAL   Dis Markers 2022, 8602068 (2022)
   PUBMED   35726234
  REMARK    GeneRIF: C1R, CCL2, and TNFRSF1A Genes in Coronavirus
            Disease-COVID-19 Pathway Serve as Novel Molecular Biomarkers of GBM
            Prognosis and Immune Infiltration.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2488)
  AUTHORS   Viiklepp,K., Nissinen,L., Ojalill,M., Riihila,P., Kallajoki,M.,
            Meri,S., Heino,J. and Kahari,V.M.
  TITLE     C1r Upregulates Production of Matrix Metalloproteinase-13 and
            Promotes Invasion of Cutaneous Squamous Cell Carcinoma
  JOURNAL   J Invest Dermatol 142 (5), 1478-1488 (2022)
   PUBMED   34756877
  REMARK    GeneRIF: C1r Upregulates Production of Matrix Metalloproteinase-13
            and Promotes Invasion of Cutaneous Squamous Cell Carcinoma.
REFERENCE   5  (bases 1 to 2488)
  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   6  (bases 1 to 2488)
  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 2488)
  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 2488)
  AUTHORS   Lee,S.L., Wallace,S.L., Barone,R., Blum,L. and Chase,P.H.
  TITLE     Familial deficiency of two subunits of the first component of
            complement. C1r and C1s associated with a lupus erythematosus-like
            disease
  JOURNAL   Arthritis Rheum 21 (8), 958-967 (1978)
   PUBMED   737019
REFERENCE   9  (bases 1 to 2488)
  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 2488)
  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 BC035220.1 and M14058.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001733.6.
            
            Summary: This gene encodes a member of the peptidase S1 protein
            family. The encoded protein is a proteolytic subunit in the
            complement system C1 complex. The complement system acts as a
            mediator in the innate immune response by ultimately triggering
            phagocytosis, inflammation, and rupturing the bacterial cell wall.
            Mutations in this gene are associated with Ehlers-Danlos Syndrome.
            [provided by RefSeq, Dec 2018].
            
            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 :: BC035220.1, SRR1803617.180836.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144, SAMEA2467148
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647956.2/ ENSP00000497341.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-511               BC035220.1         3-513
            512-1448            M14058.1           518-1454
            1449-2488           BC035220.1         1451-2490
FEATURES             Location/Qualifiers
     source          1..2488
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2488
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /note="complement C1r"
                     /db_xref="GeneID:715"
                     /db_xref="HGNC:HGNC:1246"
                     /db_xref="MIM:613785"
     exon            1..59
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     CDS             58..2175
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /EC_number="3.4.21.41"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; complement component 1, r subcomponent;
                     complement C1r subcomponent"
                     /codon_start=1
                     /product="complement C1r subcomponent isoform 1
                     preproprotein"
                     /protein_id="NP_001724.4"
                     /db_xref="CCDS:CCDS81658.1"
                     /db_xref="GeneID:715"
                     /db_xref="HGNC:HGNC:1246"
                     /db_xref="MIM:613785"
                     /translation="MWLLYLLVPALFCRAGGSIPIPQKLFGEVTSPLFPKPYPNNFET
                     TTVITVPTGYRVKLVFQQFDLEPSEGCFYDYVKISADKKSLGRFCGQLGSPLGNPPGK
                     KEFMSQGNKMLLTFHTDFSNEENGTIMFYKGFLAYYQAVDLDECASRSKSGEEDPQPQ
                     CQHLCHNYVGGYFCSCRPGYELQEDRHSCQAECSSELYTEASGYISSLEYPRSYPPDL
                     RCNYSIRVERGLTLHLKFLEPFDIDDHQQVHCPYDQLQIYANGKNIGEFCGKQRPPDL
                     DTSSNAVDLLFFTDESGDSRGWKLRYTTEIIKCPQPKTLDEFTIIQNLQPQYQFRDYF
                     IATCKQGYQLIEGNQVLHSFTAVCQDDGTWHRAMPRCKIKDCGQPRNLPNGDFRYTTT
                     MGVNTYKARIQYYCHEPYYKMQTRAGSRESEQGVYTCTAQGIWKNEQKGEKIPRCLPV
                     CGKPVNPVEQRQRIIGGQKAKMGNFPWQVFTNIHGRGGGALLGDRWILTAAHTLYPKE
                     HEAQSNASLDVFLGHTNVEELMKLGNHPIRRVSVHPDYRQDESYNFEGDIALLELENS
                     VTLGPNLLPICLPDNDTFYDLGLMGYVSGFGVMEEKIAHDLRFVRLPVANPQACENWL
                     RGKNRMDVFSQNMFCAGHPSLKQDACQGDSGGVFAVRDPNTDRWVATGIVSWGIGCSR
                     GYGFYTKVLNYVDWIKKEMEEED"
     exon            60..288
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            289..481
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            482..628
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            629..825
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            826..973
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            974..1095
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1096..1174
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1330
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1405
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     exon            1406..2488
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2270..2275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /note="hexamer: ATTAAA"
     polyA_site      2291
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /note="major polyA site"
     regulatory      2465..2470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /note="hexamer: AATAAA"
     polyA_site      2488
                     /gene="C1R"
                     /gene_synonym="EDS8; EDSPD1"
                     /note="major polyA site"
ORIGIN      
        1 acacagtgca cgaagacgct gtcgggagag cccaggattc aacacgggcc ttgagaaatg
       61 tggctcttgt acctcctggt gccggccctg ttctgcaggg caggaggctc cattcccatc
      121 cctcagaagt tatttgggga ggtgacttcc cctctgttcc ccaagcctta ccccaacaac
      181 tttgaaacaa ccactgtgat cacagtcccc acgggataca gggtgaagct cgtcttccag
      241 cagtttgacc tggagccttc tgaaggctgc ttctatgatt atgtcaagat ctctgctgat
      301 aagaaaagcc tggggaggtt ctgtgggcaa ctgggttctc cactgggcaa ccccccggga
      361 aagaaggaat ttatgtccca agggaacaag atgctgctga ccttccacac agacttctcc
      421 aacgaggaga atgggaccat catgttctac aagggcttcc tggcctacta ccaagctgtg
      481 gaccttgatg aatgtgcttc ccggagcaaa tcaggggagg aggatcccca gccccagtgc
      541 cagcacctgt gtcacaacta cgttggaggc tacttctgtt cctgccgtcc aggctatgag
      601 cttcaggaag acaggcattc ctgccaggct gagtgcagca gcgagctgta cacggaggca
      661 tcaggctaca tctccagcct ggagtaccct cggtcctacc cccctgacct gcgctgcaac
      721 tacagcatcc gggtggagcg gggcctcacc ctgcacctca agttcctgga gccttttgat
      781 attgatgacc accagcaagt acactgcccc tatgaccagc tacagatcta tgccaacggg
      841 aagaacattg gcgagttctg tgggaagcaa aggccccccg acctcgacac cagcagcaat
      901 gctgtggatc tgctgttctt cacagatgag tcgggggaca gccggggctg gaagctgcgc
      961 tacaccaccg agatcatcaa gtgcccccag cccaagaccc tagacgagtt caccatcatc
     1021 cagaacctgc agcctcagta ccagttccgt gactacttca ttgctacctg caagcaaggc
     1081 taccagctca tagaggggaa ccaggtgctg cattccttca cagctgtctg ccaggatgat
     1141 ggcacgtggc atcgtgccat gcccagatgc aagatcaagg actgtgggca gccccgaaac
     1201 ctgcctaatg gtgacttccg ttacaccacc acaatgggag tgaacaccta caaggcccgt
     1261 atccagtact actgccatga gccatattac aagatgcaga ccagagctgg cagcagggag
     1321 tctgagcaag gggtgtacac ctgcacagca cagggcattt ggaagaatga acagaaggga
     1381 gagaagattc ctcggtgctt gccagtgtgt gggaagcccg tgaaccccgt ggaacagagg
     1441 cagcgcatca tcggagggca aaaagccaag atgggcaact tcccctggca ggtgttcacc
     1501 aacatccacg ggcgcggggg cggggccctg ctgggcgacc gctggatcct cacagctgcc
     1561 cacaccctgt atcccaagga acacgaagcg caaagcaacg cctctttgga tgtgttcctg
     1621 ggccacacaa atgtggaaga gctcatgaag ctaggaaatc accccatccg cagggtcagc
     1681 gtccacccgg actaccgtca ggatgagtcc tacaattttg agggggacat cgccctgctg
     1741 gagctggaaa atagtgtcac cctgggtccc aacctcctcc ccatctgcct ccctgacaac
     1801 gataccttct acgacctggg cttgatgggc tatgtcagtg gcttcggggt catggaggag
     1861 aagattgctc atgacctcag gtttgtccgt ctgcccgtag ctaatccaca ggcctgtgag
     1921 aactggctcc ggggaaagaa taggatggat gtgttctctc aaaacatgtt ctgtgctgga
     1981 cacccatctc taaagcagga cgcctgccag ggggatagtg ggggcgtttt tgcagtaagg
     2041 gacccgaaca ctgatcgctg ggtggccacg ggcatcgtgt cctggggcat cgggtgcagc
     2101 aggggctatg gcttctacac caaagtgctc aactacgtgg actggatcaa gaaagagatg
     2161 gaggaggagg actgagccca gaattcacta ggttcgaatc cagagagcag tgtggaaaaa
     2221 aaaaaacaaa aaacaactga ccagttgttg ataaccacta agagtctcta ttaaaattac
     2281 tgatgcagaa agaccgtgtg tgaaattctc tttcctgtag tcccattgat gtactttacc
     2341 tgaaacaacc caaagggccc ctttctttct tctgaggatt gcagaggata tagttatcaa
     2401 tctctagttg tcactttcct cttccacttt gataccattg ggtcattgaa tataactttt
     2461 tccaaataaa gttttatgag aaatgcca
//
