Complement factor I

Details

Name

Complement factor I

Synonyms

• 3.4.21.45
• C3B/C4B inactivator
• IF

Gene Name

CFI

Organism

Humans

Amino acid sequence

>lcl|BSEQ0049820|Complement factor I
MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCV
CKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGN
TDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTE
CLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKA
CDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVT
QEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDA
SGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHEN
YNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNER
VFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYV
WGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV

Number of residues

583

Molecular Weight

65749.78

Theoretical pI

Not Available

GO Classification

Functions

metal ion binding / scavenger receptor activity / serine-type endopeptidase activity

Processes

complement activation, classical pathway / innate immune response / regulation of complement activation

Components

extracellular exosome / extracellular region / extracellular space / membrane

General Function

Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.

Specific Function

Metal ion binding

Pfam Domain Function

• Trypsin (PF00089)
• Ldl_recept_a (PF00057)
• SRCR (PF00530)

Transmembrane Regions

Not Available

Cellular Location

Secreted

Gene sequence

>lcl|BSEQ0049821|Complement factor I (CFI)
ATGAAGCTTCTTCATGTTTTCCTGTTATTTCTGTGCTTCCACTTAAGGTTTTGCAAGGTC
ACTTATACATCTCAAGAGGATCTGGTGGAGAAAAAGTGCTTAGCAAAAAAATATACTCAC
CTCTCCTGCGATAAAGTCTTCTGCCAGCCATGGCAGAGATGCATTGAGGGCACCTGTGTT
TGTAAACTACCGTATCAGTGCCCAAAGAATGGCACTGCAGTGTGTGCAACTAACAGGAGA
AGCTTCCCAACATACTGTCAACAAAAGAGTTTGGAATGTCTTCATCCAGGGACAAAGTTT
TTAAATAACGGAACATGCACAGCCGAAGGAAAGTTTAGTGTTTCCTTGAAGCATGGAAAT
ACAGATTCAGAGGGAATAGTTGAAGTAAAACTTGTGGACCAAGATAAGACAATGTTCATA
TGCAAAAGCAGCTGGAGCATGAGGGAAGCCAACGTGGCCTGCCTTGACCTTGGGTTTCAA
CAAGGTGCTGATACTCAAAGAAGGTTTAAGTTGTCTGATCTCTCTATAAATTCCACTGAA
TGTCTACATGTGCATTGCCGAGGATTAGAGACCAGTTTGGCTGAATGTACTTTTACTAAG
AGAAGAACTATGGGTTACCAGGATTTCGCTGATGTGGTTTGTTATACACAGAAAGCAGAT
TCTCCAATGGATGACTTCTTTCAGTGTGTGAATGGGAAATACATTTCTCAGATGAAAGCC
TGTGATGGTATCAATGATTGTGGAGACCAAAGTGATGAACTGTGTTGTAAAGCATGCCAA
GGCAAAGGCTTCCATTGCAAATCGGGTGTTTGCATTCCAAGCCAGTATCAATGCAATGGT
GAGGTGGACTGCATTACAGGGGAAGATGAAGTTGGCTGTGCAGGCTTTGCATCTGTGGCT
CAAGAAGAAACAGAAATTTTGACTGCTGACATGGATGCAGAAAGAAGACGGATAAAATCA
TTATTACCTAAACTATCTTGTGGAGTTAAAAACAGAATGCACATTCGAAGGAAACGAATT
GTGGGAGGAAAGCGAGCACAACTGGGAGACCTCCCATGGCAGGTGGCAATTAAGGATGCC
AGTGGAATCACCTGTGGGGGAATTTATATTGGTGGCTGTTGGATTCTGACTGCTGCACAT
TGTCTCAGAGCCAGTAAAACTCATCGTTACCAAATATGGACAACAGTAGTAGACTGGATA
CACCCCGACCTTAAACGTATAGTAATTGAATACGTGGATAGAATTATTTTCCATGAAAAC
TACAATGCAGGCACTTACCAAAATGACATCGCTTTGATTGAAATGAAAAAAGACGGAAAC
AAAAAAGATTGTGAGCTGCCTCGTTCCATCCCTGCCTGTGTCCCCTGGTCTCCTTACCTA
TTCCAACCTAATGATACATGCATCGTTTCTGGCTGGGGACGAGAAAAAGATAACGAAAGA
GTCTTTTCACTTCAGTGGGGTGAAGTTAAACTAATAAGCAACTGCTCTAAGTTTTACGGA
AATCGTTTCTATGAAAAAGAAATGGAATGTGCAGGTACATATGATGGTTCCATCGATGCC
TGTAAAGGGGACTCTGGAGGCCCCTTAGTCTGTATGGATGCCAACAATGTGACTTATGTC
TGGGGTGTTGTGAGTTGGGGGGAAAACTGTGGAAAACCAGAGTTCCCAGGTGTTTACACC
AAAGTGGCCAATTATTTTGACTGGATTAGCTACCATGTAGGAAGGCCTTTTATTTCTCAG
TACAATGTATAA

Chromosome Location

4

Locus

4q25

External Identifiers

Resource	Link
UniProtKB ID	P05156
UniProtKB Entry Name	CFAI_HUMAN
HGNC ID	HGNC:5394

General References

1. Catterall CF, Lyons A, Sim RB, Day AJ, Harris TJ: Characterization of primary amino acid sequence of human complement control protein factor I from an analysis of cDNA clones. Biochem J. 1987 Mar 15;242(3):849-56. [Article]
2. Goldberger G, Bruns GA, Rits M, Edge MD, Kwiatkowski DJ: Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4. J Biol Chem. 1987 Jul 25;262(21):10065-71. [Article]
3. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. [Article]
4. Minta JO, Fung M, Turner S, Eren R, Zemach L, Rits M, Goldberger G: Cloning and characterization of the promoter for the human complement factor I (C3b/C4b inactivator) gene. Gene. 1998 Feb 16;208(1):17-24. [Article]
5. Ullman CG, Haris PI, Smith KF, Sim RB, Emery VC, Perkins SJ: Beta-sheet secondary structure of an LDL receptor domain from complement factor I by consensus structure predictions and spectroscopy. FEBS Lett. 1995 Sep 4;371(2):199-203. [Article]
6. Bunkenborg J, Pilch BJ, Podtelejnikov AV, Wisniewski JR: Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. Proteomics. 2004 Feb;4(2):454-65. [Article]
7. Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. J Proteome Res. 2005 Nov-Dec;4(6):2070-80. [Article]
8. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [Article]
9. Jia W, Lu Z, Fu Y, Wang HP, Wang LH, Chi H, Yuan ZF, Zheng ZB, Song LN, Han HH, Liang YM, Wang JL, Cai Y, Zhang YK, Deng YL, Ying WT, He SM, Qian XH: A strategy for precise and large scale identification of core fucosylated glycoproteins. Mol Cell Proteomics. 2009 May;8(5):913-23. doi: 10.1074/mcp.M800504-MCP200. Epub 2009 Jan 12. [Article]
10. Nilsson J, Ruetschi U, Halim A, Hesse C, Carlsohn E, Brinkmalm G, Larson G: Enrichment of glycopeptides for glycan structure and attachment site identification. Nat Methods. 2009 Nov;6(11):809-11. doi: 10.1038/nmeth.1392. Epub 2009 Oct 18. [Article]
11. Roversi P, Johnson S, Caesar JJ, McLean F, Leath KJ, Tsiftsoglou SA, Morgan BP, Harris CL, Sim RB, Lea SM: Structural basis for complement factor I control and its disease-associated sequence polymorphisms. Proc Natl Acad Sci U S A. 2011 Aug 2;108(31):12839-44. doi: 10.1073/pnas.1102167108. Epub 2011 Jul 18. [Article]
12. Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ: The molecular basis of hereditary complement factor I deficiency. J Clin Invest. 1996 Feb 15;97(4):925-33. [Article]
13. Baracho GV, Nudelman V, Isaac L: Molecular characterization of homozygous hereditary factor I deficiency. Clin Exp Immunol. 2003 Feb;131(2):280-6. [Article]
14. Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, Vigneau C, Kuypers D, Boudailliez B, Loirat C, Rondeau E, Fridman WH: Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004 Jun;41(6):e84. [Article]
15. Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G: Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006 Aug 15;108(4):1267-79. Epub 2006 Apr 18. [Article]
16. Servais A, Fremeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grunfeld JP, Lesavre P, Noel LH, Fakhouri F: Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. J Med Genet. 2007 Mar;44(3):193-9. Epub 2006 Oct 3. [Article]
17. Geelen J, van den Dries K, Roos A, van de Kar N, de Kat Angelino C, Klasen I, Monnens L, van den Heuvel L: A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. Pediatr Nephrol. 2007 Mar;22(3):371-5. Epub 2006 Nov 15. [Article]
18. Maga TK, Nishimura CJ, Weaver AE, Frees KL, Smith RJ: Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat. 2010 Jun;31(6):E1445-60. doi: 10.1002/humu.21256. [Article]
19. van de Ven JP, Nilsson SC, Tan PL, Buitendijk GH, Ristau T, Mohlin FC, Nabuurs SB, Schoenmaker-Koller FE, Smailhodzic D, Campochiaro PA, Zack DJ, Duvvari MR, Bakker B, Paun CC, Boon CJ, Uitterlinden AG, Liakopoulos S, Klevering BJ, Fauser S, Daha MR, Katsanis N, Klaver CC, Blom AM, Hoyng CB, den Hollander AI: A functional variant in the CFI gene confers a high risk of age-related macular degeneration. Nat Genet. 2013 Jul;45(7):813-7. doi: 10.1038/ng.2640. Epub 2013 May 19. [Article]
20. Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. J Proteomics. 2014 Jan 16;96:253-62. doi: 10.1016/j.jprot.2013.11.014. Epub 2013 Nov 22. [Article]

Drug Relations

Drug Relations

DrugBank ID	Name	Drug group	Pharmacological action?	Actions	Details
DB09130	Copper	approved, investigational	unknown		Details
DB01593	Zinc	approved, investigational	unknown		Details
DB14487	Zinc acetate	approved, investigational	unknown		Details