Reviewed, UniProtKB/Swiss-Prot P10643 (CO7_HUMAN)

Names and origin

Protein names

Recommended name:
    Complement component C7

Gene names

Name:

C7

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	843 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	C7 is a constituent of the membrane attack complex. C7 binds to C5b forming the C5b-7 complex, where it serves as a membrane anchor.
Subunit structure	Monomer or dimer; as a C5b-7 complex it can also form multimeric rosettes.
Subcellular location	Secreted.
Post-translational modification	C7 has 28 disulfide bridges.
Involvement in disease	Defects in C7 are a cause of component C7 deficiency (C7D) [MIM:217070]. Patients with C7D suffer from recurrent bacterial infections, predominantly from Neisseria meningitidis. Ref.7 Ref.8 Ref.9
Sequence similarities	Belongs to the complement C6/C7/C8/C9 family. Contains 1 EGF-like domain. Contains 1 LDL-receptor class A domain. Contains 1 MACPF domain. Contains 2 Sushi (CCP/SCR) domains. Contains 2 TSP type-1 domains.

Ontologies

Keywords
Biological process	Complement alternate pathway Complement pathway Cytolysis Immune response Innate immunity
Cellular component	Membrane attack complex Secreted
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	EGF-like domain Repeat Signal Sushi
PTM	Disulfide bond Glycoprotein
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	complement activation, alternative pathway Inferred from electronic annotation. Source: UniProtKB-KW complement activation, classical pathway Inferred from electronic annotation. Source: UniProtKB-KW cytolysis Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	extracellular region Inferred from Experiment. Source: Reactome intracellular membrane-bounded organelle Inferred from direct assay. Source: HPA membrane attack complex Ref.1 Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 22	22
	Chain	23 – 843	821	Complement component C7		PRO_0000023583
Regions
	Domain	27 – 80	54	TSP type-1 1
	Domain	83 – 121	39	LDL-receptor class A
	Domain	124 – 456	333	MACPF
	Domain	457 – 487	31	EGF-like
	Domain	500 – 549	50	TSP type-1 2
	Domain	569 – 628	60	Sushi 1
	Domain	629 – 690	62	Sushi 2
	Region	695 – 770	76	Complement control factor I module 1
	Region	771 – 843	73	Complement control factor I module 2
Amino acid modifications
	Glycosylation	36	1	C-linked (Man) Ref.4
	Glycosylation	202	1	N-linked (GlcNAc...) Ref.5 Ref.6
	Glycosylation	503	1	C-linked (Man); partial Ref.4
	Glycosylation	506	1	C-linked (Man); partial Ref.4
	Glycosylation	509	1	C-linked (Man); partial Ref.4
	Glycosylation	754	1	N-linked (GlcNAc...) Ref.6
	Disulfide bond	85 ↔ 96		By similarity
	Disulfide bond	91 ↔ 109		By similarity
	Disulfide bond	103 ↔ 119		By similarity
	Disulfide bond	337 ↔ 353
	Disulfide bond	571 ↔ 613		By similarity
	Disulfide bond	599 ↔ 626		By similarity
	Disulfide bond	631 ↔ 673		By similarity
	Disulfide bond	659 ↔ 688		By similarity
Natural variations
	Natural variant	128	1	C → R: dbSNP rs2271708.		VAR_050480
	Natural variant	220	1	R → Q in C7D. Ref.9		VAR_012643
	Natural variant	379	1	G → R in C7D. Ref.8		VAR_012644
	Natural variant	389	1	S → T: dbSNP rs1063499. Ref.3		VAR_033798
	Natural variant	420	1	K → Q: dbSNP rs3792646.		VAR_022023
	Natural variant	521	1	R → S in C7D. Ref.7		VAR_012645
	Natural variant	587	1	T → P: dbSNP rs13157656. Ref.1		VAR_033799
	Natural variant	682	1	E → Q in C7D. Ref.9		VAR_012646
	Natural variant	687	1	R → H in C7D. Ref.9		VAR_012647
Experimental info
	Sequence conflict	152	1	R → V in CAA60121. Ref.3
	Sequence conflict	821 – 822	2	GA → AL Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P10643-1 [UniParc]. Last modified March 15, 2005. Version 2. Checksum: DBD5D7C92DF71FA5	FASTA	843	93,518
	10 20 30 40 50 60 MKVISLFILV GFIGEFQSFS SASSPVNCQW DFYAPWSECN GCTKTQTRRR SVAVYGQYGG 70 80 90 100 110 120 QPCVGNAFET QSCEPTRGCP TEEGCGERFR CFSGQCISKS LVCNGDSDCD EDSADEDRCE 130 140 150 160 170 180 DSERRPSCDI DKPPPNIELT GNGYNELTGQ FRNRVINTKS FGGQCRKVFS GDGKDFYRLS 190 200 210 220 230 240 GNVLSYTFQV KINNDFNYEF YNSTWSYVKH TSTEHTSSSR KRSFFRSSSS SSRSYTSHTN 250 260 270 280 290 300 EIHKGKSYQL LVVENTVEVA QFINNNPEFL QLAEPFWKEL SHLPSLYDYS AYRRLIDQYG 310 320 330 340 350 360 THYLQSGSLG GEYRVLFYVD SEKLKQNDFN SVEEKKCKSS GWHFVVKFSS HGCKELENAL 370 380 390 400 410 420 KAASGTQNNV LRGEPFIRGG GAGFISGLSY LELDNPAGNK RRYSAWAESV TNLPQVIKQK 430 440 450 460 470 480 LTPLYELVKE VPCASVKKLY LKWALEEYLD EFDPCHCRPC QNGGLATVEG THCLCHCKPY 490 500 510 520 530 540 TFGAACEQGV LVGNQAGGVD GGWSCWSSWS PCVQGKKTRS RECNNPPPSG GGRSCVGETT 550 560 570 580 590 600 ESTQCEDEEL EHLRLLEPHC FPLSLVPTEF CPSPPALKDG FVQDEGTMFP VGKNVVYTCN 610 620 630 640 650 660 EGYSLIGNPV ARCGEDLRWL VGEMHCQKIA CVLPVLMDGI QSHPQKPFYT VGEKVTVSCS 670 680 690 700 710 720 GGMSLEGPSA FLCGSSLKWS PEMKNARCVQ KENPLTQAVP KCQRWEKLQN SRCVCKMPYE 730 740 750 760 770 780 CGPSLDVCAQ DERSKRILPL TVCKMHVLHC QGRNYTLTGR DSCTLPASAE KACGACPLWG 790 800 810 820 830 840 KCDAESSKCV CREASECEEE GFSICVEVNG KEQTMSECEA GALRCRGQSI SVTSIRPCAA ETQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The structure of human complement component C7 and the C5b-7 complex." Discipio R.G., Chakravari D.N., Mueller-Eberhard H.J., Fey G.H. J. Biol. Chem. 263:549-560(1988) [PubMed: 3335508] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, VARIANT PRO-587.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: PNS.
[3]	"Structure of the human C7 gene and comparison with the C6, C8A, C8B and C9 genes." Hobart M.J., Fernie B.A., DiScipio R.G. J. Immunol. 154:5188-5194(1995) [PubMed: 7730625] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 3-822, VARIANT THR-389.
[4]	"The four terminal components of the complement system are C-mannosylated on multiple tryptophan residues." Hofsteenge J., Blommers M., Hess D., Furmanek A., Miroshnichenko O. J. Biol. Chem. 274:32786-32794(1999) [PubMed: 10551839] [Abstract] Cited for: GLYCOSYLATION AT TRP-36; TRP-503; TRP-506 AND TRP-509.
[5]	"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry." Bunkenborg J., Pilch B.J., Podtelejnikov A.V., Wisniewski J.R. Proteomics 4:454-465(2004) [PubMed: 14760718] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-202, MASS SPECTROMETRY. Tissue: Plasma.
[6]	"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed: 16335952] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-202 AND ASN-754, MASS SPECTROMETRY. Tissue: Plasma.
[7]	"Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies." Fernie B.A., Wurzner R., Orren A., Morgan B.P., Potter P.C., Platonov A.E., Vershinina I.V., Shipulin G.A., Lachmann P.J., Hobart M.J. J. Immunol. 157:3648-3657(1996) [PubMed: 8871666] [Abstract] Cited for: VARIANT C7D SER-521.
[8]	"Molecular bases of C7 deficiency: three different defects." Fernie B.A., Orren A., Sheehan G., Schlesinger M., Hobart M.J. J. Immunol. 159:1019-1026(1997) [PubMed: 9218625] [Abstract] Cited for: VARIANT C7D ARG-379.
[9]	"Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes." Fernie B.A., Hobart M.J. Hum. Genet. 103:513-519(1998) [PubMed: 9856499] [Abstract] Cited for: VARIANTS C7D GLN-220; GLN-682 AND HIS-687.
+	Additional computationally mapped references.

Web resources

C7base

C7 mutation db

Cross-references

Sequence databases
EMBLGenBankDDBJ	J03507 mRNA. Translation: AAA51861.1. BC063851 mRNA. Translation: AAH63851.1. X86328 , X86329, X86330, X86331, X86332, X86333, X86334, X86335, X86336, X86337, X86338, X86339, X86340, X86341, X86342, X86343, X86344 Genomic DNA. Translation: CAA60121.1.
IPI	IPI00296608.
PIR	A27340.
RefSeq	NP_000578.2.
UniGene	Hs.78065
3D structure databases
HSSP	HSSP built from PDB template 1CR8 based on UniProtKB Q07954.
ModBase	Search...
Proteomic databases
PRIDE	P10643.
Genome annotation databases
Ensembl	ENSG00000112936. Homo sapiens. [Contig view]
GeneID	730.
KEGG	hsa:730.
Organism-specific databases
GeneCards	GC05P040945.
H-InvDB	HIX0032044.
HGNC	HGNC:1346. C7.
HPA	HPA001465.
MIM	217070. gene. 610102. phenotype.
Orphanet	101992. Complement cascade protein anomaly.
PharmGKB	PA134901290.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	P10643.
HOVERGEN	P10643.
OMA	P10643. LLEPHCF.
Enzyme and pathway databases
Reactome	REACT_6900. Signaling in Immune system.
Gene expression databases
ArrayExpress	P10643.
Bgee	P10643.
CleanEx	HS_C7.
GermOnline	ENSG00000112936. Homo sapiens.
Family and domain databases
InterPro	IPR016060. Complement_control_module. IPR013032. EGF-like_reg_CS. IPR003884. FacI_MAC. IPR002172. LDL_rcpt_classA_cys-rich. IPR001862. MAC_perforin. IPR000436. Sushi_SCR_CCP. IPR000884. Thrombospondin_1_rpt. IPR008085. Thrombospondin_1_rpt_sub. [Graphical view]
Gene3D	G3DSA:2.10.70.10. Complement_control_module. 2 hits.
Pfam	PF00057. Ldl_recept_a. 1 hit. PF01823. MACPF. 1 hit. PF00084. Sushi. 2 hits. PF00090. TSP_1. 2 hits. [Graphical view]
PRINTS	PR00764. COMPLEMENTC9. PR01705. TSP1REPEAT.
SMART	SM00032. CCP. 2 hits. SM00057. FIMAC. 2 hits. SM00192. LDLa. 1 hit. SM00457. MACPF. 1 hit. SM00209. TSP1. 2 hits. [Graphical view]
PROSITE	PS00022. EGF_1. 1 hit. PS01186. EGF_2. 1 hit. PS50026. EGF_3. False negative. PS01209. LDLRA_1. 1 hit. PS50068. LDLRA_2. 1 hit. PS00279. MACPF_1. 1 hit. PS51412. MACPF_2. 1 hit. PS50923. SUSHI. 2 hits. PS50092. TSP1. 2 hits. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	2972.
SOURCE	Search...

Entry information

Entry name

CO7_HUMAN

Accession

Primary (citable) accession number: P10643
Secondary accession number(s): Q6P3T5, Q92489

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 1, 1989
Last sequence update:	March 15, 2005
Last modified:	June 16, 2009
This is version 106 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)