LOCUS       NM_000587               5716 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens complement C7 (C7), mRNA.
ACCESSION   NM_000587
VERSION     NM_000587.4
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 5716)
  AUTHORS   Wang,S., Hu,W., Xie,Y., Wu,H., Jia,Z., Zhang,Z. and Zhang,X.
  TITLE     Functional genetic variants in complement component 7 confer
            susceptibility to gastric cancer
  JOURNAL   PeerJ 10, e12816 (2022)
   PUBMED   35111412
  REMARK    GeneRIF: Functional genetic variants in complement component 7
            confer susceptibility to gastric cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5716)
  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   3  (bases 1 to 5716)
  AUTHORS   Aarsetoy,R., Ueland,T., Aukrust,P., Michelsen,A.E., Leon de la
            Fuente,R., Grundt,H., Staines,H., Nygaard,O. and Nilsen,D.W.T.
  TITLE     Complement component 7 is associated with total- and cardiac death
            in chest-pain patients with suspected acute coronary syndrome
  JOURNAL   BMC Cardiovasc Disord 21 (1), 496 (2021)
   PUBMED   34649504
  REMARK    GeneRIF: Complement component 7 is associated with total- and
            cardiac death in chest-pain patients with suspected acute coronary
            syndrome.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5716)
  AUTHORS   Jiang,Z., Jiang,Q., Fang,X., Wang,P., Que,W., Li,H., Yu,Y., Liu,X.,
            Wang,C. and Zhong,L.
  TITLE     Recipient C7 rs9292795 genotype and the risk of hepatocellular
            carcinoma recurrence after orthotopic liver transplantation in a
            Han Chinese population
  JOURNAL   BMC Cancer 21 (1), 521 (2021)
   PUBMED   33964921
  REMARK    GeneRIF: Recipient C7 rs9292795 genotype and the risk of
            hepatocellular carcinoma recurrence after orthotopic liver
            transplantation in a Han Chinese population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5716)
  AUTHORS   Sonnen,A.F. and Henneke,P.
  TITLE     Structural biology of the membrane attack complex
  JOURNAL   Subcell Biochem 80, 83-116 (2014)
   PUBMED   24798009
  REMARK    Review article
REFERENCE   6  (bases 1 to 5716)
  AUTHORS   Hobart,M.J., Fernie,B.A. and DiScipio,R.G.
  TITLE     Structure of the human C7 gene and comparison with the C6, C8A,
            C8B, and C9 genes
  JOURNAL   J Immunol 154 (10), 5188-5194 (1995)
   PUBMED   7730625
REFERENCE   7  (bases 1 to 5716)
  AUTHORS   Hobart,M.J., Fernie,B.A., DiScipio,R.G. and Lachmann,P.J.
  TITLE     A physical map of the C6 and C7 complement component gene region on
            chromosome 5p13
  JOURNAL   Hum Mol Genet 2 (7), 1035-1036 (1993)
   PUBMED   8364540
REFERENCE   8  (bases 1 to 5716)
  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   9  (bases 1 to 5716)
  AUTHORS   Friduss,S.R., Sadoff,W.I., Hern,A.E. and Fivenson,D.P.
  TITLE     Fatal pyoderma gangrenosum in association with C7 deficiency
  JOURNAL   J Am Acad Dermatol 27 (2 Pt 2), 356-359 (1992)
   PUBMED   1517503
REFERENCE   10 (bases 1 to 5716)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC025402.1, BC063851.1,
            AC114967.2 and AI654048.1.
            
            On May 17, 2019 this sequence version replaced NM_000587.3.
            
            Summary: This gene encodes a serum glycoprotein that forms a
            membrane attack complex together with complement components C5b,
            C6, C8, and C9 as part of the terminal complement pathway of the
            innate immune system. The protein encoded by this gene contains a
            cholesterol-dependent cytolysin/membrane attack
            complex/perforin-like (CDC/MACPF) domain and belongs to a large
            family of structurally related molecules that form pores involved
            in host immunity and bacterial pathogenesis. This protein initiates
            membrane attack complex formation by binding the C5b-C6 subcomplex
            and inserts into the phospholipid bilayer, serving as a membrane
            anchor. Mutations in this gene are associated with a rare disorder
            called C7 deficiency. [provided by RefSeq, Nov 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1660805.16688.1,
                                           SRR1803617.241439.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313164.10/ ENSP00000322061.9
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-19                BC025402.1         80-98
            20-4012             BC063851.1         1-3993
            4013-5149           AC114967.2         76258-77394
            5150-5713           AI654048.1         7-570               c
            5714-5716           AC114967.2         77959-77961
FEATURES             Location/Qualifiers
     source          1..5716
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p13.1"
     gene            1..5716
                     /gene="C7"
                     /note="complement C7"
                     /db_xref="GeneID:730"
                     /db_xref="HGNC:HGNC:1346"
                     /db_xref="MIM:217070"
     exon            1..120
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     CDS             115..2646
                     /gene="C7"
                     /note="complement component C7; complement component 7"
                     /codon_start=1
                     /product="complement component C7 precursor"
                     /protein_id="NP_000578.2"
                     /db_xref="CCDS:CCDS47201.1"
                     /db_xref="GeneID:730"
                     /db_xref="HGNC:HGNC:1346"
                     /db_xref="MIM:217070"
                     /translation="MKVISLFILVGFIGEFQSFSSASSPVNCQWDFYAPWSECNGCTK
                     TQTRRRSVAVYGQYGGQPCVGNAFETQSCEPTRGCPTEEGCGERFRCFSGQCISKSLV
                     CNGDSDCDEDSADEDRCEDSERRPSCDIDKPPPNIELTGNGYNELTGQFRNRVINTKS
                     FGGQCRKVFSGDGKDFYRLSGNVLSYTFQVKINNDFNYEFYNSTWSYVKHTSTEHTSS
                     SRKRSFFRSSSSSSRSYTSHTNEIHKGKSYQLLVVENTVEVAQFINNNPEFLQLAEPF
                     WKELSHLPSLYDYSAYRRLIDQYGTHYLQSGSLGGEYRVLFYVDSEKLKQNDFNSVEE
                     KKCKSSGWHFVVKFSSHGCKELENALKAASGTQNNVLRGEPFIRGGGAGFISGLSYLE
                     LDNPAGNKRRYSAWAESVTNLPQVIKQKLTPLYELVKEVPCASVKKLYLKWALEEYLD
                     EFDPCHCRPCQNGGLATVEGTHCLCHCKPYTFGAACEQGVLVGNQAGGVDGGWSCWSS
                     WSPCVQGKKTRSRECNNPPPSGGGRSCVGETTESTQCEDEELEHLRLLEPHCFPLSLV
                     PTEFCPSPPALKDGFVQDEGTMFPVGKNVVYTCNEGYSLIGNPVARCGEDLRWLVGEM
                     HCQKIACVLPVLMDGIQSHPQKPFYTVGEKVTVSCSGGMSLEGPSAFLCGSSLKWSPE
                     MKNARCVQKENPLTQAVPKCQRWEKLQNSRCVCKMPYECGPSLDVCAQDERSKRILPL
                     TVCKMHVLHCQGRNYTLTGRDSCTLPASAEKACGACPLWGKCDAESSKCVCREASECE
                     EEGFSICVEVNGKEQTMSECEAGALRCRGQSISVTSIRPCAAETQ"
     exon            121..176
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            177..252
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            253..394
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            395..542
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            543..681
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            682..852
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1096
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1207
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1374
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1375..1603
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1604..1775
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1776..1863
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..1996
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2188
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            2189..2279
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            2280..2464
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     exon            2465..5716
                     /gene="C7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3990..3995
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7"
                     /note="hexamer: ATTAAA"
     polyA_site      4012
                     /gene="C7"
                     /note="major polyA site"
     regulatory      4859..4864
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7"
                     /note="hexamer: AATAAA"
     regulatory      4874..4879
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C7"
                     /note="hexamer: AATAAA"
     polyA_site      4879
                     /gene="C7"
     polyA_site      4895
                     /gene="C7"
     polyA_site      5716
                     /gene="C7"
ORIGIN      
        1 agggagaggc agagaggcag gcagcctgct gggctcttcc tgctgttgaa aacttacccg
       61 gcccttacag aggaaatctt cctcctctct tctgccctga atgttttccc aaacatgaag
      121 gtgataagct tattcatttt ggtgggattt ataggagagt tccaaagttt ttcaagtgcc
      181 tcctctccag tcaactgcca gtgggacttc tatgcccctt ggtcagaatg caatggctgt
      241 accaagactc agactcgcag gcggtcagtt gctgtgtatg ggcagtatgg aggccagcct
      301 tgtgttggaa atgcttttga aacacagtcc tgtgaaccta caagaggatg tccaacagag
      361 gagggatgtg gagagcgttt caggtgcttt tcaggtcagt gcatcagcaa atcattggtt
      421 tgcaatgggg attctgactg tgatgaagac agtgctgatg aagacagatg tgaggactca
      481 gaaaggagac cttcctgtga tatcgataaa cctcctccta acatagaact tactggaaat
      541 ggttacaatg aactcactgg ccagtttagg aacagagtca tcaataccaa aagttttggt
      601 ggtcaatgta gaaaggtgtt tagtggggat ggaaaagatt tctacaggct gagtggaaat
      661 gtcctgtcct atacattcca ggtgaaaata aataatgatt ttaattatga attttacaat
      721 agtacttggt cttatgtaaa acatacgtcg acagaacaca catcatctag tcggaagcgc
      781 tcctttttta gatcttcatc atcttcttca cgcagttata cttcacatac caatgaaatc
      841 cataaaggaa agagttacca actgctggtt gttgagaaca ctgttgaagt ggctcagttc
      901 attaataaca atccagaatt tttacaactt gctgagccat tctggaagga gctttcccac
      961 ctcccctctc tgtatgacta cagtgcctac cgaagattaa tcgaccagta cgggacacat
     1021 tatctgcaat ctgggtcgtt aggaggagaa tacagagttc tattttatgt ggactcagaa
     1081 aaattaaaac aaaatgattt taattcagtc gaagaaaaga aatgtaaatc ctcaggttgg
     1141 cattttgtcg ttaaattttc aagtcatgga tgcaaggaac tggaaaacgc tttaaaagct
     1201 gcttcaggaa cccagaacaa tgtattgcga ggagaaccgt tcatcagagg gggaggtgca
     1261 ggcttcatat ctggccttag ttacctagag ctggacaatc ctgctggaaa caaaaggcga
     1321 tattctgcct gggcagaatc tgtgactaat cttcctcaag tcataaaaca aaagctgaca
     1381 cctttatatg agctggtaaa ggaagtacct tgtgcctctg tgaaaaaact atacctgaaa
     1441 tgggctcttg aagagtatct ggatgaattt gacccctgtc attgccggcc ttgtcaaaat
     1501 ggtggtttgg ctactgttga ggggacccat tgtctgtgcc attgcaaacc gtacacattt
     1561 ggtgcggcgt gtgagcaagg agtcctcgta gggaatcaag caggaggggt tgatggaggt
     1621 tggagttgct ggtcctcttg gagcccctgt gtccaaggga agaaaacaag aagccgtgaa
     1681 tgcaataacc cacctcccag tgggggtggg agatcctgcg ttggagaaac gacagaaagc
     1741 acacaatgcg aagatgagga gctggagcac ttgaggttgc ttgaaccaca ttgctttcct
     1801 ttgtctttgg ttccaacaga attctgtcca tcacctcctg ccttgaaaga tggatttgtt
     1861 caagatgaag gtacaatgtt tcctgtgggg aaaaatgtag tgtacacttg caatgaagga
     1921 tactctctta ttggaaaccc agtggccaga tgtggagaag atttacggtg gcttgttggg
     1981 gaaatgcatt gtcagaaaat tgcctgtgtt ctacctgtac tgatggatgg catacagagt
     2041 cacccccaaa aacctttcta cacagttggt gagaaggtga ctgtttcctg ttcaggtggc
     2101 atgtccttag aaggtccttc agcatttctc tgtggctcca gccttaagtg gagtcctgag
     2161 atgaagaatg cccgctgtgt acaaaaagaa aatccgttaa cacaggcagt gcctaaatgt
     2221 cagcgctggg agaaactgca gaattcaaga tgtgtttgta aaatgcccta cgaatgtgga
     2281 ccttccttgg atgtatgtgc tcaagatgag agaagcaaaa ggatactgcc tctgacagtt
     2341 tgcaagatgc atgttctcca ctgtcagggt agaaattaca cccttactgg tagggacagc
     2401 tgtactctgc ctgcctcagc tgagaaagct tgtggtgcct gcccactgtg gggaaaatgt
     2461 gatgctgaga gcagcaaatg tgtctgccga gaagcatcgg agtgcgagga agaagggttt
     2521 agcatttgtg tggaagtgaa cggcaaggag cagacgatgt ctgagtgtga ggcgggcgct
     2581 ctgagatgca gagggcagag catctctgtc accagcataa ggccttgtgc tgcggaaacc
     2641 cagtaggctc ctggaggccc tggtcagctt gcttggaatc cagcaggcag ctggggctga
     2701 gtgaaaacat ctgcacaact gggcactgga cagcttttcc ttcttctcca gtgtctacct
     2761 tcctcctcaa ctcccagcca tctgtataaa cacaatcctt tgttctccca aatctgaatc
     2821 gaattactct tttgcctcct ttttaatgtc agtaaggata tgagcctttg cacaggctgg
     2881 ctgcgtgttc ttgaaatagg tgttaccttc tctgggcctt ggttttttaa aatctgtaaa
     2941 attagaggat tgcactagag aaacttgaat gctccattca ggcctatcat tttattaagt
     3001 atgattgaca cagcccatgg gccagaacac actctacaaa atgactagga taacagaaag
     3061 aacgtgatct cctgattaga gagggtggtt ttcctcaatg gaaccaaata taaagaggac
     3121 ttgaacaaaa atgacagata caaactattt ctatcctgag tagtaatctc acacttcatc
     3181 ctatagagtc aaccaccaca gataggaatt ccttattctt tttttaattt ttttaagaca
     3241 gagtctcact ttgttgccca ggctggagcg cagtggggtg atctcatctc cctgcaacct
     3301 ccgcctcctg ggttcaagcg attcttgtgc ctcagcttcc caagcagctg ggattacagg
     3361 tgcccgccac cacgcccagc taatttttgc atttttagta gagatggggt ttcaccatgt
     3421 tggccacgct cgtctccaac tcctgacctc aggtaatccg cctgccttgg cctcccaaag
     3481 tgctgggatt acagacatga accaccacgc ctggctggaa tacttactct tgtcgggaga
     3541 ttgaaccact aaaatgttag agcagaattc attatgctgt ggtcacaggg gtgtcttgtc
     3601 tgagaacaaa tacaattcag tcttctcttt ggggttttag tatgtgtcaa acataggact
     3661 ggaagtttgc ccctgttctt ttttcttttg aaagaacatc agttcatgcc tgaggcatga
     3721 gtgactgtgc atttgagaat agttttccct attctgtgga tacagtccca gagttttcag
     3781 ggagtacaca ggtagattag tttgaagcat tgacctttta tttattcctt atttctcttt
     3841 catcaaaaca aaacagcagc tgtgggagga gaaatgagag ggcttaaatg aaatttaaaa
     3901 taagctatat tatacaaata ctatctctgt attgttctga ccctggtaaa tatatttcaa
     3961 aacttcagat gacaaggatt agaacactca ttaaagatgc tattcttcag aattgtttca
     4021 tttgtatgat gtttcatttt agagaagatt ttcatgatga atggttaatg tgttcttgcc
     4081 tgaagtttta tgtctgatcc agatctagct ttttgtatca aagtgtgccc taagggaaga
     4141 tgcagatata atatgttgaa gttacaagga ggcaggtttc aattggttaa aaacaatgac
     4201 attcagacat tgcaactgca tttgttagcg gttattacag agttaatttc taccctggat
     4261 gggaggacac atttgaacat gctaggcctg gatgcagacc ctgagacaaa aggttgaaca
     4321 agtaattcat ttggaaggaa atacctcagt atccttccaa taatttctcc tcttagctta
     4381 agctagtatg gagttagatt cctaccgctt atgtatcacc atgccccctt cctaaataat
     4441 acagaggata tggtcagcat tatcacatat catcagagat tgaggtttga aagaaaggaa
     4501 atgagtagat gtaactaaga ggtttgagaa aggaatttca gcagagttat tgaaggagaa
     4561 gtcaaggaga ggagaaggag aggagcagtg aatgttgtcg tgaagaggtg ttgtcttgaa
     4621 atactgtatt tttttcctcc ttttcttttc tgaacattct tgtgctgacc tttcctctag
     4681 tccaacagag gcattcacaa ttgcctgtgg agaattagga ttgtcgcagc aggtcagcaa
     4741 ggagaaagtc atttttaaga ttaaattttt aaaaatgttt tgaaacttcc aaaataagtt
     4801 cttgaacacc tatggagagg ctttgaggaa agttaaggga atgattttat accacaaaaa
     4861 taaatggaaa aagaataaag actgtgagaa ttccatcttc ctgccctttc ctgtgcctca
     4921 gatcaggtga gggtcatctg ggttagaagg ggatagagcc ttggaggagg cagagggcag
     4981 aaagcattgc tgagattaga gtcatttggc cctcagaagg aacagacaaa gagaaggaaa
     5041 ttggctggtg cattaatcat cactagcttc agggagctat gtggaggcca aggcacatcc
     5101 tacagatcat cgcttaccac tcatgaggac gctacaagtt acctgggcag agaaggtgcc
     5161 tgagaatatt tcctaatcgt tttgagaagt gccttcctgt gacatcttat gtatttccta
     5221 attgatcaaa agtagtgctg cttctctaag ccctgagatt taatgagccc cattcaaact
     5281 gttattaatg taaccttctt tcccagtgca ggatgacttg taatcacctt gaaagagaag
     5341 gagggttctt cgtattcagg tagggtatgg tagggatgtg gagtgccaag caggaaatct
     5401 gacaagtgac ccccggaact ttggattacc tagcaactag ccaggtaact ggctaatctg
     5461 attgagggtt gccctctttg ctgggcagat catggctaat ctcagcttca catgagtctt
     5521 gtgaaccatc tagttgtttt gtaactgcta agagctgcaa gtgctgagca gctggtttat
     5581 acagcattcc ctgaaacagc ctagtatgtg tccatttatg tgcccggctt attatgtgtc
     5641 cacttatgtg tccaattagt aatcactttt tctttcggtc aaggtatgtg tattaatcaa
     5701 tattttttga acccgt
//
