LOCUS       NM_000066               2040 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens complement C8 beta chain (C8B), transcript variant 1,
            mRNA.
ACCESSION   NM_000066
VERSION     NM_000066.4
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 2040)
  AUTHORS   Lovelace,L.L., Cooper,C.L., Sodetz,J.M. and Lebioda,L.
  TITLE     Structure of human C8 protein provides mechanistic insight into
            membrane pore formation by complement
  JOURNAL   J Biol Chem 286 (20), 17585-17592 (2011)
   PUBMED   21454577
REFERENCE   2  (bases 1 to 2040)
  AUTHORS   Brannen,C.L. and Sodetz,J.M.
  TITLE     Incorporation of human complement C8 into the membrane attack
            complex is mediated by a binding site located within the C8beta
            MACPF domain
  JOURNAL   Mol Immunol 44 (5), 960-965 (2007)
   PUBMED   16624411
REFERENCE   3  (bases 1 to 2040)
  AUTHORS   Saucedo,L., Ackermann,L., Platonov,A.E., Gewurz,A., Rakita,R.M. and
            Densen,P.
  TITLE     Delineation of additional genetic bases for C8 beta deficiency.
            Prevalence of null alleles and predominance of C-->T transition in
            their genesis
  JOURNAL   J Immunol 155 (10), 5022-5028 (1995)
   PUBMED   7594510
REFERENCE   4  (bases 1 to 2040)
  AUTHORS   Dewald,G., Hemmer,S. and Nothen,M.M.
  TITLE     Human complement component C8. Molecular basis of the beta-chain
            polymorphism
  JOURNAL   FEBS Lett 340 (3), 211-215 (1994)
   PUBMED   8131848
REFERENCE   5  (bases 1 to 2040)
  AUTHORS   Kaufmann,T., Rittner,C. and Schneider,P.M.
  TITLE     The human complement component C8B gene: structure and phylogenetic
            relationship
  JOURNAL   Hum Genet 92 (1), 69-75 (1993)
   PUBMED   8365729
REFERENCE   6  (bases 1 to 2040)
  AUTHORS   Ng,S.C., Rao,A.G., Howard,O.M. and Sodetz,J.M.
  TITLE     The eighth component of human complement: evidence that it is an
            oligomeric serum protein assembled from products of three different
            genes
  JOURNAL   Biochemistry 26 (17), 5229-5233 (1987)
   PUBMED   3676249
REFERENCE   7  (bases 1 to 2040)
  AUTHORS   Rogde,S., Olaisen,B., Gedde-Dahl,T. Jr. and Teisberg,P.
  TITLE     The C8A and C8B loci are closely linked on chromosome 1
  JOURNAL   Ann Hum Genet 50 (2), 139-144 (1986)
   PUBMED   3435043
REFERENCE   8  (bases 1 to 2040)
  AUTHORS   Rogde,S., Mevag,B., Teisberg,P., Gedde-Dahl,T. Jr., Tedesco,F. and
            Olaisen,B.
  TITLE     Genetic polymorphism of complement component C8
  JOURNAL   Hum Genet 70 (3), 211-216 (1985)
   PUBMED   3879968
REFERENCE   9  (bases 1 to 2040)
  AUTHORS   Alper,C.A., Marcus,D., Raum,D., Petersen,B.H. and Spira,T.J.
  TITLE     Genetic polymorphism in C8 beta-chains. Evidence for two unlinked
            genetic loci for the eighth component of human complement (C8)
  JOURNAL   J Clin Invest 72 (5), 1526-1531 (1983)
   PUBMED   6415112
REFERENCE   10 (bases 1 to 2040)
  AUTHORS   Nicholson,A. and Lepow,I.H.
  TITLE     Host defense against Neisseria meningitidis requires a
            complement-dependent bactericidal activity
  JOURNAL   Science 205 (4403), 298-299 (1979)
   PUBMED   451601
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121998.7.
            
            On Nov 22, 2018 this sequence version replaced NM_000066.3.
            
            Summary: This gene encodes one of the three subunits of the
            complement component 8 (C8) protein. C8 is composed of equimolar
            amounts of alpha, beta and gamma subunits, which are encoded by
            three separate genes. C8 is one component of the membrane attack
            complex, which mediates cell lysis, and it initiates membrane
            penetration of the complex. This protein mediates the interaction
            of C8 with the C5b-7 membrane attack complex precursor. In humans
            deficiency of this protein is associated with increased risk of
            meningococcal infections. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2013].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR5189664.133305.1,
                                           SRR5189664.116950.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000371237.9/ ENSP00000360281.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-159               AL121998.7         223-381
            160-316             AL121998.7         6062-6218
            317-458             AL121998.7         9328-9469
            459-600             AL121998.7         11411-11552
            601-733             AL121998.7         14058-14190
            734-931             AL121998.7         16486-16683
            932-1172            AL121998.7         20177-20417
            1173-1301           AL121998.7         22414-22542
            1302-1465           AL121998.7         25226-25389
            1466-1619           AL121998.7         32750-32903
            1620-1688           AL121998.7         34360-34428
            1689-2040           AL121998.7         36680-37031
FEATURES             Location/Qualifiers
     source          1..2040
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.2"
     gene            1..2040
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="complement C8 beta chain"
                     /db_xref="GeneID:732"
                     /db_xref="HGNC:HGNC:1353"
                     /db_xref="MIM:120960"
     exon            1..159
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     CDS             68..1843
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; complement component C8 beta chain; complement
                     component 8 subunit beta; complement component 8, beta
                     polypeptide"
                     /codon_start=1
                     /product="complement component C8 beta chain isoform 1
                     preproprotein"
                     /protein_id="NP_000057.3"
                     /db_xref="CCDS:CCDS30730.1"
                     /db_xref="GeneID:732"
                     /db_xref="HGNC:HGNC:1353"
                     /db_xref="MIM:120960"
                     /translation="MKNSRTWAWRAPVELFLLCAALGCLSLPGSRGERPHSFGSNAVN
                     KSFAKSRQMRSVDVTLMPIDCELSSWSSWTTCDPCQKKRYRYAYLLQPSQFHGEPCNF
                     SDKEVEDCVTNRPCGSQVRCEGFVCAQTGRCVNRRLLCNGDNDCGDQSDEANCRRIYK
                     KCQHEMDQYWGIGSLASGINLFTNSFEGPVLDHRYYAGGCSPHYILNTRFRKPYNVES
                     YTPQTQGKYEFILKEYESYSDFERNVTEKMASKSGFSFGFKIPGIFELGISSQSDRGK
                     HYIRRTKRFSHTKSVFLHARSDLEVAHYKLKPRSLMLHYEFLQRVKRLPLEYSYGEYR
                     DLFRDFGTHYITEAVLGGIYEYTLVMNKEAMERGDYTLNNVHACAKNDFKIGGAIEEV
                     YVSLGVSVGKCRGILNEIKDRNKRDTMVEDLVVLVRGGASEHITTLAYQELPTADLMQ
                     EWGDAVQYNPAIIKVKVEPLYELVTATDFAYSSTVRQNMKQALEEFQKEVSSCHCAPC
                     QGNGVPVLKGSRCDCICPVGSQGLACEVSYRKNTPIDGKWNCWSNWSSCSGRRKTRQR
                     QCNNPPPQNGGSPCSGPASETLDCS"
     exon            160..316
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            317..458
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            459..600
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            601..733
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            734..931
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1172
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            1173..1301
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1465
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            1466..1619
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            1620..1688
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     exon            1689..2040
                     /gene="C8B"
                     /gene_synonym="C82"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1976..1981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="hexamer: AATAAA"
     polyA_site      2003
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="major polyA site"
     regulatory      2013..2018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="hexamer: AATAAA"
     polyA_site      2040
                     /gene="C8B"
                     /gene_synonym="C82"
                     /note="major polyA site"
ORIGIN      
        1 ggcactcaca gcacaggctt gttatgggtc tagcagcctc tgtggcatct cctgtcacat
       61 tgggaaaatg aagaattcca ggacatgggc ttggagggcg ccggtggagc tatttcttct
      121 ctgtgctgcc ctgggctgtc tcagtttgcc tggctccaga ggtgaaaggc cacattcctt
      181 tgggtcaaat gcagtcaaca agagctttgc taagagcaga cagatgcgga gtgtggatgt
      241 taccctgatg cccattgatt gtgagctgtc tagttggtcc tcttggacca catgtgaccc
      301 ctgtcagaag aaaaggtaca ggtatgccta cttgctccag ccctctcagt tccatgggga
      361 accgtgcaac ttctctgaca aggaagtcga agactgtgtt accaacagac catgcggaag
      421 tcaagtgcga tgtgaaggct ttgtgtgtgc acagacagga aggtgtgtaa accgcagact
      481 tctttgcaat ggggacaatg actgtggaga ccagtcagat gaagcaaact gtagaaggat
      541 ttataaaaaa tgtcagcatg aaatggacca atactgggga attggcagtc tggccagtgg
      601 gataaatttg ttcacaaaca gttttgaggg cccagttctt gatcacaggt attatgcagg
      661 tggatgctcc ccgcattaca tcctgaacac gaggtttagg aagccctaca atgtggaaag
      721 ctacacgcca cagacccaag gcaaatacga attcatatta aaagagtatg aatcatactc
      781 agattttgaa cgcaatgtca cagagaaaat ggcaagcaag tctggtttca gttttggttt
      841 taaaatacct ggaatatttg aacttggcat cagtagtcaa agtgatcgag gcaaacacta
      901 tattaggaga accaaacgat tctctcatac taaaagcgta tttctgcatg cacgctctga
      961 ccttgaagta gcacattaca agctgaaacc cagaagcctc atgctccatt acgagttcct
     1021 tcagagagtt aagcggctgc ccctggagta cagctacggg gaatacagag atctcttccg
     1081 tgattttggg acccactaca tcacagaggc tgtgcttggg ggcatttatg aatacaccct
     1141 cgttatgaac aaagaggcca tggagagagg agattatact cttaacaacg tccatgcctg
     1201 tgccaaaaat gattttaaaa ttggtggtgc cattgaagag gtctacgtca gtctgggtgt
     1261 gtctgtaggc aaatgcagag gtattctgaa tgaaataaaa gacagaaaca agagggacac
     1321 catggtggag gacttggtgg tcctggtacg aggaggggca agtgagcaca tcaccaccct
     1381 ggcataccag gagctgccga cggcggacct gatgcaggag tggggagacg ctgtgcagta
     1441 caacccagcc atcatcaaag ttaaggtgga gcctctgtat gaactagtga cagccacaga
     1501 ttttgcctat tccagcacag tgaggcagaa catgaagcag gcactggagg agttccagaa
     1561 ggaagttagt tcctgccact gtgctccctg ccaaggaaat ggagtccctg tcctgaaagg
     1621 atcacgctgt gactgcatct gtcctgttgg atcccaaggc ctagcctgtg aggtctccta
     1681 tcggaagaat acccccattg atgggaagtg gaattgctgg tcaaattggt cttcatgctc
     1741 tggaagacgt aagacaagac aaaggcagtg taacaatcca cctcctcaaa atgggggtag
     1801 cccctgttca ggccctgctt cagaaacact tgactgctcc tagcagatga tacagcagtg
     1861 ggctacatac aatgagagcc ctgagccctc aagaactcat gccagctcag ccctacacca
     1921 gtttccacct ggagttcatg caagggcaaa aggcagtgcc atgcaagctg tttaaaataa
     1981 agatgttacc ttgtaaaatg caagttgatt taaataaata ctgagttaaa ggcttaagca
//
