LOCUS       NM_001737               2770 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens complement C9 (C9), mRNA.
ACCESSION   NM_001737
VERSION     NM_001737.5
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 2770)
  AUTHORS   Baidya,A., Khatun,M., Mondal,R.K., Ghosh,S., Chakraborty,B.C.,
            Mallik,S., Ahammed,S.K.M., Chowdhury,A., Banerjee,S. and Datta,S.
  TITLE     Hepatitis B virus suppresses complement C9 synthesis by limiting
            the availability of transcription factor USF-1 and inhibits
            formation of membrane attack complex: implications in disease
            pathogenesis
  JOURNAL   J Biomed Sci 29 (1), 97 (2022)
   PUBMED   36376872
  REMARK    GeneRIF: Hepatitis B virus suppresses complement C9 synthesis by
            limiting the availability of transcription factor USF-1 and
            inhibits formation of membrane attack complex: implications in
            disease pathogenesis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2770)
  AUTHORS   David,M., Moodley,J. and Naicker,T.
  TITLE     The function of adipsin and C9 protein in the complement system in
            HIV-associated preeclampsia
  JOURNAL   Arch Gynecol Obstet 304 (6), 1467-1473 (2021)
   PUBMED   33881585
  REMARK    GeneRIF: The function of adipsin and C9 protein in the complement
            system in HIV-associated preeclampsia.
REFERENCE   3  (bases 1 to 2770)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2770)
  AUTHORS   Ninomiya,H. and Sims,P.J.
  TITLE     The human complement regulatory protein CD59 binds to the
            alpha-chain of C8 and to the 'b'domain of C9
  JOURNAL   J Biol Chem 267 (19), 13675-13680 (1992)
   PUBMED   1377690
REFERENCE   5  (bases 1 to 2770)
  AUTHORS   Coto,E., Martinez-Naves,E., Dominguez,O., DiScipio,R.G., Urra,J.M.
            and Lopez-Larrea,C.
  TITLE     DNA polymorphisms and linkage relationship of the human complement
            component C6, C7, and C9 genes
  JOURNAL   Immunogenetics 33 (3), 184-187 (1991)
   PUBMED   1672663
REFERENCE   6  (bases 1 to 2770)
  AUTHORS   Abbott,C., West,L., Povey,S., Jeremiah,S., Murad,Z., DiScipio,R.
            and Fey,G.
  TITLE     The gene for human complement component C9 mapped to chromosome 5
            by polymerase chain reaction
  JOURNAL   Genomics 4 (4), 606-609 (1989)
   PUBMED   2744767
REFERENCE   7  (bases 1 to 2770)
  AUTHORS   Marazziti,D., Eggertsen,G., Fey,G.H. and Stanley,K.K.
  TITLE     Relationships between the gene and protein structure in human
            complement component C9
  JOURNAL   Biochemistry 27 (17), 6529-6534 (1988)
   PUBMED   3219351
REFERENCE   8  (bases 1 to 2770)
  AUTHORS   Shiver,J.W., Dankert,J.R., Donovan,J.J. and Esser,A.F.
  TITLE     The ninth component of human complement (C9). Functional activity
            of the b fragment
  JOURNAL   J Biol Chem 261 (21), 9629-9636 (1986)
   PUBMED   2426252
REFERENCE   9  (bases 1 to 2770)
  AUTHORS   Stanley,K.K., Kocher,H.P., Luzio,J.P., Jackson,P. and Tschopp,J.
  TITLE     The sequence and topology of human complement component C9
  JOURNAL   EMBO J 4 (2), 375-382 (1985)
   PUBMED   4018030
REFERENCE   10 (bases 1 to 2770)
  AUTHORS   DiScipio,R.G., Gehring,M.R., Podack,E.R., Kan,C.C., Hugli,T.E. and
            Fey,G.H.
  TITLE     Nucleotide sequence of cDNA and derived amino acid sequence of
            human complement component C9
  JOURNAL   Proc Natl Acad Sci U S A 81 (23), 7298-7302 (1984)
   PUBMED   6095282
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020721.1, CB157001.1,
            AW662752.1 and AC025471.6.
            
            On Nov 23, 2018 this sequence version replaced NM_001737.4.
            
            Summary: This gene encodes the final component of the complement
            system. It participates in the formation of the Membrane Attack
            Complex (MAC). The MAC assembles on bacterial membranes to form a
            pore, permitting disruption of bacterial membrane organization.
            Mutations in this gene cause component C9 deficiency. [provided by
            RefSeq, Feb 2009].
            
            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 :: SRR5189664.166764.1, K02766.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN04284274 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263408.5/ ENSP00000263408.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1872              BC020721.1         59-1930
            1873-2437           CB157001.1         7-571
            2438-2766           AW662752.1         1-329               c
            2767-2770           AC025471.6         54625-54628
FEATURES             Location/Qualifiers
     source          1..2770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..2770
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="complement C9"
                     /db_xref="GeneID:735"
                     /db_xref="HGNC:HGNC:1358"
                     /db_xref="MIM:120940"
     exon            1..108
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..1711
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="complement component C9; complement component 9"
                     /codon_start=1
                     /product="complement component C9 preproprotein"
                     /protein_id="NP_001728.1"
                     /db_xref="CCDS:CCDS3929.1"
                     /db_xref="GeneID:735"
                     /db_xref="HGNC:HGNC:1358"
                     /db_xref="MIM:120940"
                     /translation="MSACRSFAVAICILEISILTAQYTTSYDPELTESSGSASHIDCR
                     MSPWSEWSQCDPCLRQMFRSRSIEVFGQFNGKRCTDAVGDRRQCVPTEPCEDAEDDCG
                     NDFQCSTGRCIKMRLRCNGDNDCGDFSDEDDCESEPRPPCRDRVVEESELARTAGYGI
                     NILGMDPLSTPFDNEFYNGLCNRDRDGNTLTYYRRPWNVASLIYETKGEKNFRTEHYE
                     EQIEAFKSIIQEKTSNFNAAISLKFTPTETNKAEQCCEETASSISLHGKGSFRFSYSK
                     NETYQLFLSYSSKKEKMFLHVKGEIHLGRFVMRNRDVVLTTTFVDDIKALPTTYEKGE
                     YFAFLETYGTHYSSSGSLGGLYELIYVLDKASMKRKGVELKDIKRCLGYHLDVSLAFS
                     EISVGAEFNKDDCVKRGEGRAVNITSENLIDDVVSLIRGGTRKYAFELKEKLLRGTVI
                     DVTDFVNWASSINDAPVLISQKLSPIYNLVPVKMKNAHLKKQNLERAIEDYINEFSVR
                     KCHTCQNGGTVILMDGKCLCACPFKFEGIACEISKQKISEGLPALEFPNEK"
     exon            109..214
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            215..359
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            360..507
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            508..646
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            647..901
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1142
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            1143..1271
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1447
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            1448..1676
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..2770
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2634..2639
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="hexamer: AAGAAA"
     polyA_site      2635
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="major polyA site"
     regulatory      2638..2643
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="hexamer: AAGAAA"
     polyA_site      2657
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
     regulatory      2691..2696
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="hexamer: AATAAA"
     polyA_site      2709
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="major polyA site"
     regulatory      2742..2747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
                     /note="hexamer: AATAAA"
     polyA_site      2770
                     /gene="C9"
                     /gene_synonym="ARMD15; C9D"
ORIGIN      
        1 accccactcg cagccaccca gcaagagcag catgtcagcc tgccggagct ttgcagttgc
       61 aatctgcatt ttagaaataa gcatcctcac agcacagtac acgaccagtt atgacccaga
      121 gctaacagaa agcagtggct ctgcatcaca catagactgc agaatgagcc cctggagtga
      181 atggtcacaa tgcgatcctt gtctcagaca aatgtttcgt tcaagaagca ttgaggtctt
      241 tggacaattt aatgggaaaa gatgcaccga cgctgtggga gacagacgac agtgtgtgcc
      301 cacagagccc tgtgaggatg ctgaggatga ctgcggaaat gactttcaat gcagtacagg
      361 cagatgcata aagatgcgac ttcggtgtaa tggtgacaat gactgcggag acttttcaga
      421 tgaggatgat tgtgaaagtg agccccgtcc cccctgcaga gacagagtgg tagaagagtc
      481 tgagctggca cgaacagcag gctatgggat caacatttta gggatggatc ccctaagcac
      541 accttttgac aatgagttct acaatggact ctgtaaccgg gatcgggatg gaaacactct
      601 gacatactac cgaagacctt ggaacgtggc ttctttgatc tatgaaacca aaggcgagaa
      661 aaatttcaga accgaacatt acgaagaaca aattgaagca tttaaaagta tcatccaaga
      721 gaagacatca aattttaatg cagctatatc tctaaaattt acacccactg aaacaaataa
      781 agctgaacaa tgttgtgagg aaacagcctc ctcaatttct ttacatggca agggtagttt
      841 tcggttttca tattccaaaa atgaaactta ccaactattt ttgtcatatt cttcaaagaa
      901 ggaaaaaatg tttctgcatg tgaaaggaga aattcatctg ggaagatttg taatgagaaa
      961 tcgcgatgtt gtgctcacaa caacttttgt ggatgatata aaagctttgc caactaccta
     1021 tgaaaaggga gaatattttg cctttttgga aacctatgga actcactaca gtagctctgg
     1081 gtctctagga ggactctatg aactaatata tgttttggat aaagcttcca tgaagcggaa
     1141 aggtgttgaa ctaaaagaca taaagagatg ccttgggtat catctggatg tatctctggc
     1201 tttctctgaa atctctgttg gagctgaatt taataaagat gattgtgtaa agaggggaga
     1261 gggtagagct gtaaacatca ccagtgaaaa cctcatagat gatgttgttt cactcataag
     1321 aggtggaacc agaaaatatg catttgaact gaaagaaaag cttctccgag gaaccgtgat
     1381 tgatgtgact gactttgtca actgggcctc ttccataaat gatgctcctg ttctcattag
     1441 tcaaaaactg tctcctatat ataatctggt tccagtgaaa atgaaaaatg cacacctaaa
     1501 gaaacaaaac ttggaaagag ccattgaaga ctatatcaat gaatttagtg taagaaaatg
     1561 ccacacatgc caaaatggag gtacagtgat tctaatggat ggaaagtgtt tgtgtgcctg
     1621 cccattcaaa tttgagggaa ttgcctgtga aatcagtaaa caaaaaattt ctgaaggatt
     1681 gccagcccta gagttcccca atgaaaaata gagctgttgg cttctctgag ctccagtgga
     1741 agaagaaaac actagtacct tcagatccta cccctgaaga taatcttagc tgccaagtaa
     1801 atagcaacat gcttcatgaa aatcctacca acctctgaag tctcttctct cttaggtcta
     1861 taattttttt ttaaattttt cttccttaaa ctcctgtgat gtttccattt tttgttccct
     1921 aatgagaagt caacagtgaa atacgccaga actgctttat cccacggaaa atgccaatct
     1981 cttctaaaaa aaaacaaaat taaattaaaa acagaatgtt ggtttaaaaa acttcaaagt
     2041 aattttcaaa cggctttgta tggttaacat attctgccag gtccatgacc acacgtctgt
     2101 accatgcaat ttaactctta tttacattgt tatgtttagt ttggttattt gcttaggtgt
     2161 gcatacattc attcagcaaa tgctgagcac cagccacgtg cacagcagtt gcttttacta
     2221 gtcttagctc tacgatttaa atccatgtgt ccaaggggga aaacatatta tatttgtaac
     2281 caaaaactac tagtttacca gaggactgaa gggagataaa gaggagttgg ttaatgggta
     2341 caaaaatcca gttagatgaa aggaataata tagatagtgt tcagtagcag aatagaatga
     2401 acataaacta ttagtttaaa ttatgtgaaa ttccttctat ttgatcatat tttacaagaa
     2461 aaaacatcaa ttttatatag tccaacttaa tacctagcct tatgagttgt ataaggtaag
     2521 gttacctacc tgagaagctg attaacattg gttgtacaat cttattcatt agagaacatg
     2581 gtgcttaggg tctgagacct tttgaaaggt ctgagaactc tttaaaaaaa ggaaagaaag
     2641 aaagaaaaga ggaaaaatat atcaaaataa aaaaatgcaa aatgagaatt aataaatgct
     2701 taaacatcag tatgtatcat gttaacttta ttgttactat taataaacat ttcacacatt
     2761 tataaataaa
//
