LOCUS       NM_000065               3691 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens complement C6 (C6), transcript variant 1, mRNA.
ACCESSION   NM_000065
VERSION     NM_000065.5
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 3691)
  AUTHORS   Lukassen,M.V., Franc,V., Hevler,J.F. and Heck,A.J.R.
  TITLE     Similarities and differences in the structures and proteoform
            profiles of the complement proteins C6 and C7
  JOURNAL   Proteomics 21 (21-22), e2000310 (2021)
   PUBMED   34241972
  REMARK    GeneRIF: Similarities and differences in the structures and
            proteoform profiles of the complement proteins C6 and C7.
REFERENCE   2  (bases 1 to 3691)
  AUTHORS   Menny,A., Serna,M., Boyd,C.M., Gardner,S., Joseph,A.P.,
            Morgan,B.P., Topf,M., Brooks,N.J. and Bubeck,D.
  TITLE     CryoEM reveals how the complement membrane attack complex ruptures
            lipid bilayers
  JOURNAL   Nat Commun 9 (1), 5316 (2018)
   PUBMED   30552328
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3691)
  AUTHORS   Han,Y.Y., Zhao,L.J., Lin,Y., He,H., Tian,Q., Zhu,W., Shen,H.,
            Chen,X.D. and Deng,H.W.
  TITLE     Multiple analyses indicate the specific association of NR1I3, C6
            and TNN with low hip BMD risk
  JOURNAL   J Genet Genomics 44 (6), 327-330 (2017)
   PUBMED   28629900
  REMARK    GeneRIF: specific association of NR1I3, C6 and TNN with low hip BMD
            risk
REFERENCE   4  (bases 1 to 3691)
  AUTHORS   Wu,W., Yang,H., Feng,Y., Zhang,P., Li,S., Wang,X., Peng,T.,
            Wang,F., Xie,B., Guo,P., Li,M., Wang,Y., Zhao,N., Wang,D., Wang,S.
            and Zhang,Y.
  TITLE     Polymorphisms in complement genes and risk of preeclampsia in
            Taiyuan, China
  JOURNAL   Inflamm Res 65 (10), 837-845 (2016)
   PUBMED   27405496
  REMARK    GeneRIF: Our study provided novel evidence that genetic variations
            in complement genes C6 and MASP1were associated with preeclampsia
            risk, and that the risk varied by preeclampsia subtypes
REFERENCE   5  (bases 1 to 3691)
  AUTHORS   Wang,Z., Liao,J., Wu,S., Li,C., Fan,J. and Peng,Z.
  TITLE     Recipient C6 rs9200 genotype is associated with hepatocellular
            carcinoma recurrence after orthotopic liver transplantation in a
            Han Chinese population
  JOURNAL   Cancer Gene Ther 23 (6), 157-161 (2016)
   PUBMED   27173880
  REMARK    GeneRIF: recipient C6 rs9200 polymorphism is associated with HCC
            recurrence after OLT, and improves the predictive value of clinical
            models.
REFERENCE   6  (bases 1 to 3691)
  AUTHORS   DiScipio,R.G.
  TITLE     Formation and structure of the C5b-7 complex of the lytic pathway
            of complement
  JOURNAL   J Biol Chem 267 (24), 17087-17094 (1992)
   PUBMED   1387399
REFERENCE   7  (bases 1 to 3691)
  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   8  (bases 1 to 3691)
  AUTHORS   Haefliger,J.A., Tschopp,J., Vial,N. and Jenne,D.E.
  TITLE     Complete primary structure and functional characterization of the
            sixth component of the human complement system. Identification of
            the C5b-binding domain in complement C6
  JOURNAL   J Biol Chem 264 (30), 18041-18051 (1989)
   PUBMED   2808363
REFERENCE   9  (bases 1 to 3691)
  AUTHORS   DiScipio,R.G. and Hugli,T.E.
  TITLE     The molecular architecture of human complement component C6
  JOURNAL   J Biol Chem 264 (27), 16197-16206 (1989)
   PUBMED   2789218
REFERENCE   10 (bases 1 to 3691)
  AUTHORS   Chakravarti,D.N., Chakravarti,B., Parra,C.A. and
            Muller-Eberhard,H.J.
  TITLE     Structural homology of complement protein C6 with other
            channel-forming proteins of complement
  JOURNAL   Proc Natl Acad Sci U S A 86 (8), 2799-2803 (1989)
   PUBMED   2468158
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA642358.1, J05064.1 and
            AC008863.8.
            
            On Feb 11, 2020 this sequence version replaced NM_000065.4.
            
            Summary: This gene encodes a component of the complement cascade.
            The encoded protein is part of the membrane attack complex that can
            be incorporated into the cell membrane and cause cell lysis.
            Mutations in this gene are associated with complement component-6
            deficiency. Transcript variants encoding the same protein have been
            described.[provided by RefSeq, Nov 2012].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1 and 2 both encode the same protein.
            
            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 :: J05024.1, J05064.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337836.10/ ENSP00000338861.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-22                DA642358.1         32-53
            23-2033             J05064.1           1-2011
            2034-2058           AC008863.8         132935-132959       c
            2059-3325           J05064.1           2037-3303
            3326-3691           AC008863.8         116290-116655       c
FEATURES             Location/Qualifiers
     source          1..3691
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..3691
                     /gene="C6"
                     /note="complement C6"
                     /db_xref="GeneID:729"
                     /db_xref="HGNC:HGNC:1339"
                     /db_xref="MIM:217050"
     exon            1..157
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            158..320
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     CDS             178..2982
                     /gene="C6"
                     /note="complement component C6; complement component 6"
                     /codon_start=1
                     /product="complement component C6 precursor"
                     /protein_id="NP_000056.2"
                     /db_xref="CCDS:CCDS3936.1"
                     /db_xref="GeneID:729"
                     /db_xref="HGNC:HGNC:1339"
                     /db_xref="MIM:217050"
                     /translation="MARRSVLYFILLNALINKGQACFCDHYAWTQWTSCSKTCNSGTQ
                     SRHRQIVVDKYYQENFCEQICSKQETRECNWQRCPINCLLGDFGPWSDCDPCIEKQSK
                     VRSVLRPSQFGGQPCTAPLVAFQPCIPSKLCKIEEADCKNKFRCDSGRCIARKLECNG
                     ENDCGDNSDERDCGRTKAVCTRKYNPIPSVQLMGNGFHFLAGEPRGEVLDNSFTGGIC
                     KTVKSSRTSNPYRVPANLENVGFEVQTAEDDLKTDFYKDLTSLGHNENQQGSFSSQGG
                     SSFSVPIFYSSKRSENINHNSAFKQAIQASHKKDSSFIRIHKVMKVLNFTTKAKDLHL
                     SDVFLKALNHLPLEYNSALYSRIFDDFGTHYFTSGSLGGVYDLLYQFSSEELKNSGLT
                     EEEAKHCVRIETKKRVLFAKKTKVEHRCTTNKLSEKHEGSFIQGAEKSISLIRGGRSE
                     YGAALAWEKGSSGLEEKTFSEWLESVKENPAVIDFELAPIVDLVRNIPCAVTKRNNLR
                     KALQEYAAKFDPCQCAPCPNNGRPTLSGTECLCVCQSGTYGENCEKQSPDYKSNAVDG
                     QWGCWSSWSTCDATYKRSRTRECNNPAPQRGGKRCEGEKRQEEDCTFSIMENNGQPCI
                     NDDEEMKEVDLPEIEADSGCPQPVPPENGFIRNEKQLYLVGEDVEISCLTGFETVGYQ
                     YFRCLPDGTWRQGDVECQRTECIKPVVQEVLTITPFQRLYRIGESIELTCPKGFVVAG
                     PSRYTCQGNSWTPPISNSLTCEKDTLTKLKGHCQLGQKQSGSECICMSPEEDCSHHSE
                     DLCVFDTDSNDYFTSPACKFLAEKCLNNQQLHFLHIGSCQDGRQLEWGLERTRLSSNS
                     TKKESCGYDTCYDWEKCSASTSKCVCLLPPQCFKGGNQLYCVKMGSSTSEKTLNICEV
                     GTIRCANRKMEILHPGKCLA"
     exon            321..477
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            478..622
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            623..764
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            765..903
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1104
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1345
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            1346..1468
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            1469..1635
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1861
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            1862..2033
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            2034..2145
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..2278
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            2279..2467
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            2468..2558
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            2559..2800
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     exon            2801..3691
                     /gene="C6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3318..3323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     regulatory      3348..3353
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3365
                     /gene="C6"
                     /note="major polyA site"
     polyA_site      3381
                     /gene="C6"
                     /note="major polyA site"
     regulatory      3481..3486
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3499
                     /gene="C6"
                     /note="major polyA site"
     regulatory      3551..3556
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3574
                     /gene="C6"
     regulatory      3669..3674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C6"
                     /note="hexamer: AATAAA"
     polyA_site      3691
                     /gene="C6"
ORIGIN      
        1 aggcttctgg gatatgacag cattgccttg tgttagctag caataagaaa agaagctttg
       61 tttggattaa catatatacc ctcttcattc tgcataccta ttttttcccc aataatttgc
      121 agcttaggtc cgaggacacc acaaactctg cttaaagggc ctggaggctc tcaaggcatg
      181 gccagacgct ctgtcttgta cttcatcctg ctgaatgctc tgatcaacaa gggccaagcc
      241 tgcttctgtg atcactatgc atggactcag tggaccagct gctcaaaaac ttgcaattct
      301 ggaacccaga gcagacacag acaaatagta gtagataagt actaccagga aaacttttgt
      361 gaacagattt gcagcaagca ggagactaga gaatgtaact ggcaaagatg ccccatcaac
      421 tgcctcctgg gagattttgg accatggtca gactgtgacc cttgtattga aaaacagtct
      481 aaagttagat ctgtcttgcg tcccagtcag tttgggggac agccatgcac tgcgcctctg
      541 gtagcctttc aaccatgcat tccatctaag ctctgcaaaa ttgaagaggc tgactgcaag
      601 aataaatttc gctgtgacag tggccgctgc attgccagaa agttagaatg caatggagaa
      661 aatgactgtg gagacaattc agatgaaagg gactgtggga ggacaaaggc agtatgcaca
      721 cggaagtata atcccatccc tagtgtacag ttgatgggca atgggtttca ttttctggca
      781 ggagagccca gaggagaagt ccttgataac tctttcactg gaggaatatg taaaactgtc
      841 aaaagcagta ggacaagtaa tccataccgt gttccggcca atctggaaaa tgtcggcttt
      901 gaggtacaaa ctgcagaaga tgacttgaaa acagatttct acaaggattt aacttctctt
      961 ggacacaatg aaaatcaaca aggctcattc tcaagtcagg gggggagctc tttcagtgta
     1021 ccaatttttt attcctcaaa gagaagtgaa aatatcaacc ataattctgc cttcaaacaa
     1081 gccattcaag cctctcacaa aaaggattct agttttatta ggatccataa agtgatgaaa
     1141 gtcttaaact tcacaacgaa agctaaagat ctgcaccttt ctgatgtctt tttgaaagca
     1201 cttaaccatc tgcctctaga atacaactct gctttgtaca gccgaatatt cgatgacttt
     1261 gggactcatt acttcacctc tggctccctg ggaggcgtgt atgaccttct ctatcagttt
     1321 agcagtgagg aactaaagaa ctcaggttta accgaggaag aagccaaaca ctgtgtcagg
     1381 attgaaacaa agaaacgcgt tttatttgct aagaaaacaa aagtggaaca taggtgcacc
     1441 accaacaagc tgtcagagaa acatgaaggt tcatttatac agggagcaga gaaatccata
     1501 tccctgattc gaggtggaag gagtgaatat ggagcagctt tggcatggga gaaagggagc
     1561 tctggtctgg aggagaagac attttctgag tggttagaat cagtgaagga aaatcctgct
     1621 gtgattgact ttgagcttgc ccccatcgtg gacttggtaa gaaacatccc ctgtgcagtg
     1681 acaaaacgga acaacctcag gaaagctttg caagagtatg cagccaagtt cgatccttgc
     1741 cagtgtgctc catgccctaa taatggccga cccaccctct cagggactga atgtctgtgt
     1801 gtgtgtcaga gtggcaccta tggtgagaac tgtgagaaac agtctccaga ttataaatcc
     1861 aatgcagtag acggacagtg gggttgttgg tcttcctgga gtacctgtga tgctacttat
     1921 aagagatcga gaacccgaga atgcaataat cctgcccccc aacgaggagg gaaacgctgt
     1981 gagggggaga agcgacaaga ggaagactgc acattttcaa tcatggaaaa caatggacaa
     2041 ccatgtatca atgatgacga agaaatgaaa gaggtcgatc ttcctgagat agaagcagat
     2101 tccgggtgtc ctcagccagt tcctccagaa aatggattta tccggaatga aaagcaacta
     2161 tacttggttg gagaagatgt tgaaatttca tgccttactg gctttgaaac tgttggatac
     2221 cagtacttca gatgcttacc agacgggacc tggagacaag gggatgtgga atgccaacgg
     2281 acggagtgca tcaagccagt tgtgcaggaa gtcctgacaa ttacaccatt tcagagattg
     2341 tatagaattg gtgaatccat tgagctaact tgccccaaag gctttgttgt tgctgggcca
     2401 tcaaggtaca catgccaggg gaattcctgg acaccaccca tttcaaactc tctcacctgt
     2461 gaaaaagata ctctaacaaa attaaaaggc cattgtcagc tgggacagaa acaatcagga
     2521 tctgaatgca tttgtatgtc tccagaagaa gactgtagcc atcattcaga agatctctgt
     2581 gtgtttgaca cagactccaa cgattacttt acttcacccg cttgtaagtt tttggctgag
     2641 aaatgtttaa ataatcagca actccatttt ctacatattg gttcctgcca agacggccgc
     2701 cagttagaat ggggtcttga aaggacaaga ctttcatcca acagcacaaa gaaagaatcc
     2761 tgtggctatg acacctgcta tgactgggaa aaatgttcag cctccacttc caaatgtgtc
     2821 tgcctattgc ccccacagtg cttcaagggt ggaaaccaac tctactgtgt caaaatggga
     2881 tcatcaacaa gtgagaaaac attgaacatc tgtgaagtgg gaactataag atgtgcaaac
     2941 aggaagatgg aaatactgca tcctggaaag tgtttggcct agcacaatta ctgctaggcc
     3001 cagcacaatg aacagattta ccatcccgaa gaaccaactc ctacaaatga gaattcttgc
     3061 acaaacagca gactggcatg ctcaaagtta ctgacaaaaa ttattttctg ttagtttgag
     3121 atcattattc tcccctgact ctcctgtttg ggcatgtctt attcagttcc agctcatgac
     3181 gccctgtagc atacccctag gtaccaactt ccacagcagt ctcgtaaatt ctcctgttca
     3241 cattgtacaa aaataatgtg acttctgagg cccttatgta gcctgtgaca ttaagcattc
     3301 tcgcaattag aaataagaat aaaacccata attttcttca atgagttaat aaacagaaat
     3361 ctccagaacc tctgaaacac attcttgaag cccagctttc atatcttcat tcaacaaata
     3421 atttctgagt gtgtatacag gatgtcaagt actgaccaaa gtcctgagaa ctcggcagat
     3481 aataaaacag acaaaagcct ttgccttcat gaagcataca ttcattcagg ggtagacaca
     3541 caaaaaatga aataaacagg taaaatatgt agcatgtttg atggtgataa ttgttttgga
     3601 gaaaatacaa cacggaaggg tgagtcccat ccttaattat catcttatgc aaggaaatat
     3661 tccataacaa taaacatcgc tgtaaggatg a
//
