LOCUS NP_000553 584 aa linear PRI 28-JUL-2023
DEFINITION complement component C8 alpha chain preproprotein [Homo sapiens].
ACCESSION NP_000553
VERSION NP_000553.1
DBSOURCE REFSEQ: accession 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 (residues 1 to 584)
AUTHORS Densen P, Ackermann L, Saucedo L, Figueroa JE, Si ZH and Stoltzfus
CM.
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 (residues 1 to 584)
AUTHORS Luck K, Kim DK, Lambourne L, Spirohn K, Begg BE, Bian W, Brignall
R, Cafarelli T, Campos-Laborie FJ, Charloteaux B, Choi D, Cote AG,
Daley M, Deimling S, Desbuleux A, Dricot A, Gebbia M, Hardy MF,
Kishore N, Knapp JJ, Kovacs IA, Lemmens I, Mee MW, Mellor JC,
Pollis C, Pons C, Richardson AD, Schlabach S, Teeking B, Yadav A,
Babor M, Balcha D, Basha O, Bowman-Colin C, Chin SF, Choi SG,
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 JN, Rangarajan S,
Rasla J, Rayhan A, Rolland T, San-Miguel A, Shen Y, Sheykhkarimli
D, Sheynkman GM, Simonovsky E, Tasan M, Tejeda A, Tropepe V,
Twizere JC, Wang Y, Weatheritt RJ, Weile J, Xia Y, Yang X,
Yeger-Lotem E, Zhong Q, Aloy P, Bader GD, De Las Rivas J, Gaudet S,
Hao T, Rak J, Tavernier J, Hill DE, Vidal M, Roth FP and Calderwood
MA.
TITLE A reference map of the human binary protein interactome
JOURNAL Nature 580 (7803), 402-408 (2020)
PUBMED 32296183
REFERENCE 3 (residues 1 to 584)
AUTHORS Menny A, Serna M, Boyd CM, Gardner S, Joseph AP, Morgan BP, Topf M,
Brooks NJ 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 (residues 1 to 584)
AUTHORS Franc V, Zhu J and Heck AJR.
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 (residues 1 to 584)
AUTHORS Weiland MH, Qian Y and Sodetz JM.
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 (residues 1 to 584)
AUTHORS Theriault A, Boyd E, Whaley K, Sodetz JM and Connor JM.
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 (residues 1 to 584)
AUTHORS Kaufman KM, Snider JV, Spurr NK, Schwartz CE and Sodetz JM.
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 (residues 1 to 584)
AUTHORS Densen P and McRill CM.
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 (residues 1 to 584)
AUTHORS Muller-Eberhard HJ.
TITLE Molecular organization and function of the complement system
JOURNAL Annu Rev Biochem 57, 321-347 (1988)
PUBMED 3052276
REMARK Review article
REFERENCE 10 (residues 1 to 584)
AUTHORS Rao AG, Howard OM, Ng SC, Whitehead AS, Colten HR and Sodetz JM.
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.
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##
FEATURES Location/Qualifiers
source 1..584
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p32.2"
Protein 1..584
/product="complement component C8 alpha chain
preproprotein"
/note="complement component C8 alpha chain; complement
component 8 subunit alpha; complement component 8, alpha
polypeptide; complement component 8 alpha subunit"
/calculated_mol_wt=63006
sig_peptide 1..20
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
/calculated_mol_wt=2176
mat_peptide 31..584
/product="Complement component C8 alpha chain.
/id=PRO_0000023586"
/note="propagated from UniProtKB/Swiss-Prot (P07357.2)"
/calculated_mol_wt=61711
Region 39..>74
/region_name="TSP1_spondin"
/note="Spondin-like TSP1 domain; pfam19028"
/db_xref="CDD:436909"
Site 43
/site_type="other"
/note="Not glycosylated; propagated from
UniProtKB/Swiss-Prot (P07357.2)"
Site 44
/site_type="glycosylation"
/note="C-linked (Man) tryptophan.
/evidence=ECO:0000269|PubMed:10551839; propagated from
UniProtKB/Swiss-Prot (P07357.2)"
Region 96..130
/region_name="LDLa"
/note="Low Density Lipoprotein Receptor Class A domain, a
cysteine-rich repeat that plays a central role in
mammalian cholesterol metabolism; the receptor protein
binds LDL and transports it into cells by endocytosis; 7
successive cysteine-rich repeats of about...; cd00112"
/db_xref="CDD:238060"
Site order(100,109,120..121)
/site_type="active"
/note="putative binding surface [active]"
/db_xref="CDD:238060"
Site order(113,116,120,126..127)
/site_type="other"
/note="calcium-binding site [ion binding]"
/db_xref="CDD:238060"
Site 123..127
/site_type="other"
/note="D-X-S-D-E motif"
/db_xref="CDD:238060"
Region 289..492
/region_name="MACPF"
/note="membrane-attack complex / perforin; smart00457"
/db_xref="CDD:214671"
Site 437
/site_type="glycosylation"
/note="N-linked (GlcNAc...) asparagine.
/evidence=ECO:0000269|PubMed:16335952,
ECO:0000269|PubMed:19159218; propagated from
UniProtKB/Swiss-Prot (P07357.2)"
Site 542
/site_type="glycosylation"
/note="C-linked (Man) tryptophan.
/evidence=ECO:0000269|PubMed:10551839; propagated from
UniProtKB/Swiss-Prot (P07357.2)"
Site 545
/site_type="glycosylation"
/note="C-linked (Man) tryptophan.
/evidence=ECO:0000269|PubMed:10551839; propagated from
UniProtKB/Swiss-Prot (P07357.2)"
Site 548
/site_type="glycosylation"
/note="C-linked (Man) tryptophan.
/evidence=ECO:0000269|PubMed:10551839; propagated from
UniProtKB/Swiss-Prot (P07357.2)"
Region <551..584
/region_name="TSP1"
/note="Thrombospondin type 1 repeats; smart00209"
/db_xref="CDD:214559"
Region 562..584
/region_name="Disordered.
/evidence=ECO:0000256|SAM:MobiDB-lite"
/note="propagated from UniProtKB/Swiss-Prot (P07357.2)"
CDS 1..584
/gene="C8A"
/coded_by="NM_000562.3:106..1860"
/db_xref="CCDS:CCDS606.1"
/db_xref="GeneID:731"
/db_xref="HGNC:HGNC:1352"
/db_xref="MIM:120950"
ORIGIN
1 mfavvffils lmtcqpgvta qekvnqrvrr aatpaavtcq lsnwsewtdc fpcqdkkyrh
61 rsllqpnkfg gticsgdiwd qascsssttc vrqaqcgqdf qcketgrclk rhlvcngdqd
121 cldgsdeddc edvraidedc sqyepipgsq kaalgynilt qedaqsvyda syyggqcetv
181 yngewrelry dstcerlyyg ddekyfrkpy nflkyhfeal adtgissefy dnandllskv
241 kkdksdsfgv tigigpagsp llvgvgvshs qdtsflneln kynekkfift riftkvqtah
301 fkmrkddiml degmlqslme lpdqynygmy akfindygth yitsgsmggi yeyilvidka
361 kmeslgitsr dittcfggsl giqyedkinv ggglsgdhck kfgggktera rkamavedii
421 srvrggssgw sgglaqnrst ityrswgrsl kynpvvidfe mqpihevlrh tslgpleakr
481 qnlrraldqy lmefnacrcg pcfnngvpil egtscrcqcr lgslgaaceq tqtegakadg
541 swscwsswsv cragiqerrr ecdnpapqng gascpgrkvq tqac
//
