LOCUS       NM_000562               2367 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens complement C8 alpha chain (C8A), mRNA.
ACCESSION   NM_000562
VERSION     NM_000562.3
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 2367)
  AUTHORS   Densen,P., Ackermann,L., Saucedo,L., Figueroa,J.E., Si,Z.H. and
            Stoltzfus,C.M.
  TITLE     A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant
            Cause of C8alpha-gamma Deficiency in African Americans
  JOURNAL   J Immunol 205 (6), 1535-1539 (2020)
   PUBMED   32769119
  REMARK    GeneRIF: A Point Mutation Creating a 3' Splice Site in C8A Is a
            Predominant Cause of C8alpha-gamma Deficiency in African Americans.
REFERENCE   2  (bases 1 to 2367)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2367)
  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   4  (bases 1 to 2367)
  AUTHORS   Franc,V., Zhu,J. and Heck,A.J.R.
  TITLE     Comprehensive Proteoform Characterization of Plasma Complement
            Component C8alphabetagamma by Hybrid Mass Spectrometry Approaches
  JOURNAL   J Am Soc Mass Spectrom 29 (6), 1099-1110 (2018)
   PUBMED   29532326
  REMARK    GeneRIF: These data provide a detailed specification of
            co-occurring C8 proteoforms, including experimental evidence on
            N-glycosylation, C-mannosylation, and O-glycosylation.
REFERENCE   5  (bases 1 to 2367)
  AUTHORS   Weiland,M.H., Qian,Y. and Sodetz,J.M.
  TITLE     Membrane pore formation by human complement: functional importance
            of the transmembrane beta-hairpin (TMH) segments of C8alpha and C9
  JOURNAL   Mol Immunol 57 (2), 310-316 (2014)
   PUBMED   24239861
REFERENCE   6  (bases 1 to 2367)
  AUTHORS   Theriault,A., Boyd,E., Whaley,K., Sodetz,J.M. and Connor,J.M.
  TITLE     Regional chromosomal assignment of genes encoding the alpha and
            beta subunits of human complement protein C8 to 1p32
  JOURNAL   Hum Genet 88 (6), 703-704 (1992)
   PUBMED   1551680
REFERENCE   7  (bases 1 to 2367)
  AUTHORS   Kaufman,K.M., Snider,J.V., Spurr,N.K., Schwartz,C.E. and
            Sodetz,J.M.
  TITLE     Chromosomal assignment of genes encoding the alpha, beta, and gamma
            subunits of human complement protein C8: identification of a close
            physical linkage between the alpha and the beta loci
  JOURNAL   Genomics 5 (3), 475-480 (1989)
   PUBMED   2613233
REFERENCE   8  (bases 1 to 2367)
  AUTHORS   Densen,P. and McRill,C.M.
  TITLE     Differential functional expression of the C8 subunits. Primary role
            of C8 beta in assembly of intact C8
  JOURNAL   J Immunol 141 (8), 2674-2679 (1988)
   PUBMED   3171181
REFERENCE   9  (bases 1 to 2367)
  AUTHORS   Muller-Eberhard,H.J.
  TITLE     Molecular organization and function of the complement system
  JOURNAL   Annu Rev Biochem 57, 321-347 (1988)
   PUBMED   3052276
  REMARK    Review article
REFERENCE   10 (bases 1 to 2367)
  AUTHORS   Rao,A.G., Howard,O.M., Ng,S.C., Whitehead,A.S., Colten,H.R. and
            Sodetz,J.M.
  TITLE     Complementary DNA and derived amino acid sequence of the alpha
            subunit of human complement protein C8: evidence for the existence
            of a separate alpha subunit messenger RNA
  JOURNAL   Biochemistry 26 (12), 3556-3564 (1987)
   PUBMED   2820471
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121998.7 and M16974.1.
            
            On Aug 31, 2019 this sequence version replaced NM_000562.2.
            
            Summary: C8 is a component of the complement system and contains
            three polypeptides, alpha, beta and gamma. This gene encodes the
            alpha subunit of C8. C8 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 complement C8
            alpha-gamma deficiency. [provided by RefSeq, Nov 2008].
            
            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 :: M16974.1, BC132913.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2146982
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000361249.4/ ENSP00000354458.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AL121998.7         111430-111441       c
            13-2365             M16974.1           45-2397
            2366-2367           AL121998.7         48015-48016         c
FEATURES             Location/Qualifiers
     source          1..2367
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p32.2"
     gene            1..2367
                     /gene="C8A"
                     /note="complement C8 alpha chain"
                     /db_xref="GeneID:731"
                     /db_xref="HGNC:HGNC:1352"
                     /db_xref="MIM:120950"
     exon            1..182
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..1860
                     /gene="C8A"
                     /note="complement component C8 alpha chain; complement
                     component 8 subunit alpha; complement component 8, alpha
                     polypeptide; complement component 8 alpha subunit"
                     /codon_start=1
                     /product="complement component C8 alpha chain
                     preproprotein"
                     /protein_id="NP_000553.1"
                     /db_xref="CCDS:CCDS606.1"
                     /db_xref="GeneID:731"
                     /db_xref="HGNC:HGNC:1352"
                     /db_xref="MIM:120950"
                     /translation="MFAVVFFILSLMTCQPGVTAQEKVNQRVRRAATPAAVTCQLSNW
                     SEWTDCFPCQDKKYRHRSLLQPNKFGGTICSGDIWDQASCSSSTTCVRQAQCGQDFQC
                     KETGRCLKRHLVCNGDQDCLDGSDEDDCEDVRAIDEDCSQYEPIPGSQKAALGYNILT
                     QEDAQSVYDASYYGGQCETVYNGEWRELRYDSTCERLYYGDDEKYFRKPYNFLKYHFE
                     ALADTGISSEFYDNANDLLSKVKKDKSDSFGVTIGIGPAGSPLLVGVGVSHSQDTSFL
                     NELNKYNEKKFIFTRIFTKVQTAHFKMRKDDIMLDEGMLQSLMELPDQYNYGMYAKFI
                     NDYGTHYITSGSMGGIYEYILVIDKAKMESLGITSRDITTCFGGSLGIQYEDKINVGG
                     GLSGDHCKKFGGGKTERARKAMAVEDIISRVRGGSSGWSGGLAQNRSTITYRSWGRSL
                     KYNPVVIDFEMQPIHEVLRHTSLGPLEAKRQNLRRALDQYLMEFNACRCGPCFNNGVP
                     ILEGTSCRCQCRLGSLGAACEQTQTEGAKADGSWSCWSSWSVCRAGIQERRRECDNPA
                     PQNGGASCPGRKVQTQAC"
     exon            183..276
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            277..421
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            422..569
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            570..759
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            760..960
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1201
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1327
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1485
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1486..1708
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     exon            1709..2367
                     /gene="C8A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8A"
                     /note="hexamer: AATAAA"
     polyA_site      2148
                     /gene="C8A"
     regulatory      2233..2238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8A"
                     /note="hexamer: AACAAA"
     polyA_site      2250
                     /gene="C8A"
                     /note="major polyA site"
     regulatory      2341..2346
                     /regulatory_class="polyA_signal_sequence"
                     /gene="C8A"
                     /note="hexamer: ACTAAA"
     polyA_site      2348
                     /gene="C8A"
     polyA_site      2367
                     /gene="C8A"
ORIGIN      
        1 agatagatct tacaggtccc agcctgtaga catcttttac tccaatttcc tgaatagata
       61 gctttattcc ttcaaggtaa tatagtgcgg tggcttctgg ctgagatgtt tgctgttgtt
      121 ttcttcatct tgtctttgat gacttgtcag cctggggtaa ctgcacagga gaaggtgaac
      181 cagagagtaa gacgggcagc tacacccgca gcagttacct gccagctgag caactggtca
      241 gagtggacag attgctttcc gtgccaggac aaaaagtacc gacaccggag cctcttgcag
      301 ccaaacaagt ttgggggaac catctgcagt ggtgacatct gggatcaagc cagctgctcc
      361 agttctacaa cttgtgtaag gcaagcacag tgtggacagg atttccagtg taaggagaca
      421 ggtcgctgcc tgaaacgcca ccttgtgtgt aatggagacc aggactgcct tgatggctct
      481 gatgaggacg actgtgaaga tgtcagggcc attgacgaag actgcagcca gtatgaacca
      541 attccaggat cacagaaggc agccttgggg tacaatatcc tgacccagga agatgctcag
      601 agtgtgtacg atgccagtta ttatgggggc cagtgtgaga cggtatacaa tggggaatgg
      661 agggagcttc gatatgactc cacctgtgaa cgtctctact atggagatga tgagaaatac
      721 tttcggaaac cctacaactt tctgaagtac cactttgaag ccctggcaga tactggaatc
      781 tcctcagagt tttatgataa tgcaaatgac cttctttcca aagttaaaaa agacaagtct
      841 gactcatttg gagtgaccat cggcataggc ccagccggca gccctttatt ggtgggtgta
      901 ggtgtatccc actcacaaga cacttcattc ttgaacgaat taaacaagta taatgagaag
      961 aaattcattt tcacaagaat cttcacaaag gtgcagactg cacattttaa gatgaggaag
     1021 gatgacatta tgctggatga aggaatgctg cagtcattaa tggagcttcc agatcagtac
     1081 aattatggca tgtatgccaa gttcatcaat gactatggca cccattacat cacatctgga
     1141 tccatgggtg gcatttatga atatatcctg gtgattgaca aagcaaaaat ggaatccctt
     1201 ggtattacca gcagagatat cacgacatgt tttggaggct ccttgggcat tcaatatgaa
     1261 gacaaaataa atgttggtgg aggtttatca ggagaccatt gtaaaaaatt tggaggtggc
     1321 aaaactgaaa gggccaggaa ggccatggct gtggaagaca ttatttctcg ggtgcgaggt
     1381 ggcagttctg gctggagcgg tggcttggca cagaacagga gcaccattac ataccgttcc
     1441 tgggggaggt cattaaagta taatcctgtt gttatcgatt ttgagatgca gcctatccac
     1501 gaggtgctgc ggcacacaag cctggggcct ctggaggcca agcgccagaa cctgcgccgc
     1561 gccttggacc agtatctgat ggaattcaat gcctgccgat gtgggccttg cttcaacaat
     1621 ggggtgccca tcctcgaggg caccagctgc aggtgccagt gccgcctggg tagcttgggt
     1681 gctgcctgtg agcaaacaca gacagaagga gccaaagcag atgggagctg gagttgctgg
     1741 agctcctggt ctgtatgcag agcaggcatc caggaaagga gaagagagtg tgacaatcca
     1801 gcacctcaga atggaggggc ctcgtgtcca gggcggaaag tacagacgca ggcttgctga
     1861 gggcctctgg acacaggctg gaccagatgc tgtggatgtc gacccctgca ctgactattg
     1921 gataaagact tctttcaact aagagaagat gcaaatcagc acactttttt ctttgttctg
     1981 ccagcttcca ggcctaagac taggttttgc tgtctacagc caactattct attagttaca
     2041 aaactcaatc attttattca gcaactggat gttgactgtt aactagaagc tctgtcctac
     2101 ttacagcact ttggatcatc aaaaaaataa agtaaaatag aaaactgaga aaactcaatc
     2161 catgaccagg gagaacttac aggatgttag agacaaaaca agcagacacc tgaaacaatc
     2221 aacgcccaat aaaacaaagt aggatgaaaa ttctcttagt tctttgataa caatttgttc
     2281 actcatagaa acattattaa ttggtagggt aagcagacac tctgaaacaa tgagaaaaat
     2341 actaaaaatt gacttgagtt atttcaa
//
