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Aliases for CFI Gene

Aliases for CFI Gene

  • Complement Factor I 2 3 5
  • Konglutinogen-Activating Factor 2 3
  • C3B/C4B Inactivator 3 4
  • C3b-Inactivator 2 3
  • IF 3 4
  • Complement Control Protein Factor I 3
  • Complement Factor I Heavy Chain 3
  • Light Chain Of Factor I 3
  • Complement Component I 3
  • I Factor (Complement) 2
  • EC 4
  • EC 3.4.21 58
  • C3b-INA 3
  • ARMD13 3
  • C3BINA 3
  • AHUS3 3
  • KAF 3
  • FI 3

External Ids for CFI Gene

Previous HGNC Symbols for CFI Gene

  • IF

Previous GeneCards Identifiers for CFI Gene

  • GC04M110881
  • GC04M110661
  • GC04M106394

Summaries for CFI Gene

Entrez Gene Summary for CFI Gene

  • This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for CFI Gene

CFI (Complement Factor I) is a Protein Coding gene. Diseases associated with CFI include Complement Factor I Deficiency and Hemolytic Uremic Syndrome, Atypical 3. Among its related pathways are Immune response Lectin induced complement pathway and Staphylococcus aureus infection. GO annotations related to this gene include serine-type endopeptidase activity and scavenger receptor activity.

UniProtKB/Swiss-Prot for CFI Gene

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

Gene Wiki entry for CFI Gene

Additional gene information for CFI Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFI Gene

Genomics for CFI Gene

Regulatory Elements for CFI Gene

Enhancers for CFI Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04H109432 1.1 ENCODE 10.6 +368.2 368173 3.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ZNF207 SEC24B-AS1 RBMXP4 CFI SEC24B RN7SL55P
GH04H109548 1.1 FANTOM5 Ensembl ENCODE 10.5 +253.4 253426 1.4 ZNF316 JUND JUN EMSY MAFK CFI MCUB RBMXP4 SEC24B SETP20 MIR576
GH04H109419 0.6 ENCODE 10.7 +382.5 382456 1.3 OSR2 TCF12 GLIS1 TAL1 HLF SCRT2 EZH2 CFI RBMXP4 SEC24B PIR37678
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFI on UCSC Golden Path with GeneCards custom track

Genomic Locations for CFI Gene

Genomic Locations for CFI Gene
71,005 bases
Minus strand

Genomic View for CFI Gene

Genes around CFI on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFI Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFI Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFI Gene

Proteins for CFI Gene

  • Protein details for CFI Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Complement factor I
    Protein Accession:
    Secondary Accessions:
    • O60442

    Protein attributes for CFI Gene

    583 amino acids
    Molecular mass:
    65750 Da
    Quaternary structure:
    • Heterodimer of a light and heavy chains; disulfide-linked. The fully processed and mature protein circulates as a zymogen, and is allosterically activated by substrate-induced remodeling of the active site.
    • Sequence=CAA68416.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFI Gene

neXtProt entry for CFI Gene

Selected DME Specific Peptides for CFI Gene


Post-translational modifications for CFI Gene

  • Glycosylation at Asn70, Asn103, Asn177, Asn464, posLast=494494, and posLast=536536
  • Modification sites at PhosphoSitePlus

Domains & Families for CFI Gene

Gene Families for CFI Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CFI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S1 family.
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with CFI: view

Function for CFI Gene

Molecular function for CFI Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage.
UniProtKB/Swiss-Prot Function:
Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively.

Enzyme Numbers (IUBMB) for CFI Gene

Phenotypes From GWAS Catalog for CFI Gene

Gene Ontology (GO) - Molecular Function for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005044 scavenger receptor activity IEA --
GO:0005515 protein binding IPI 16237761
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with CFI: view
genes like me logo Genes that share phenotypes with CFI: view

Human Phenotype Ontology for CFI Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFI Gene

MGI Knock Outs for CFI:
  • Cfi tm1Mcp
  • Cfi tm1b(EUCOMM)Hmgu

miRNA for CFI Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CFI Gene

Localization for CFI Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFI Gene

Secreted, extracellular space.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFI gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 16502470
GO:0016020 membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CFI: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CFI Gene

Pathways & Interactions for CFI Gene

genes like me logo Genes that share pathways with CFI: view

Gene Ontology (GO) - Biological Process for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with CFI: view

No data available for SIGNOR curated interactions for CFI Gene

Drugs & Compounds for CFI Gene

(19) Drugs for CFI Gene - From: DrugBank, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma Target 2359
Copper Approved Pharma Target 188
Lenograstim Approved Pharma 1243
Adjuvants, Immunologic Pharma 2640

(8) Additional Compounds for CFI Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CFI: view

Transcripts for CFI Gene

Unigene Clusters for CFI Gene

Complement factor I:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFI Gene

No ASD Table

Relevant External Links for CFI Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFI Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFI Gene

mRNA differential expression in normal tissues according to GTEx for CFI Gene

This gene is overexpressed in Liver (x20.5) and Kidney - Cortex (x4.5).

Protein differential expression in normal tissues from HIPED for CFI Gene

This gene is overexpressed in Serum (23.9), Plasma (12.4), Synovial fluid (10.0), and Vitreous humor (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CFI Gene

Protein tissue co-expression partners for CFI Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CFI Gene:


SOURCE GeneReport for Unigene cluster for CFI Gene:


mRNA Expression by UniProt/SwissProt for CFI Gene:

Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for CFI Gene

  • Nervous system(4.9)
  • Liver(4.7)
  • Bone marrow(4)
  • Kidney(3.8)
  • Blood(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFI Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • neck
  • sinus
  • skull
  • heart
  • lung
  • kidney
  • liver
  • pancreas
  • ureter
  • urethra
  • urinary bladder
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood
  • blood vessel
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CFI: view

Orthologs for CFI Gene

This gene was present in the common ancestor of animals.

Orthologs for CFI Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CFI 33 34
  • 98.91 (n)
(Canis familiaris)
Mammalia CFI 33 34
  • 81.35 (n)
(Bos Taurus)
Mammalia CFI 33 34
  • 80.5 (n)
(Rattus norvegicus)
Mammalia Cfi 33
  • 77.21 (n)
(Mus musculus)
Mammalia Cfi 33 16 34
  • 76.86 (n)
(Monodelphis domestica)
Mammalia CFI 34
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia CFI 34
  • 49 (a)
(Gallus gallus)
Aves CFI 33 34
  • 62.63 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 49 (a)
-- 34
  • 47 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cfi 33
  • 60.05 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1143 33
(Danio rerio)
Actinopterygii cfi 33
  • 52.73 (n)
CFI 34
  • 34 (a)
fruit fly
(Drosophila melanogaster)
Insecta Corin 34
  • 9 (a)
CG1632 34
  • 8 (a)
ndl 34
  • 4 (a)
Species where no ortholog for CFI was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFI Gene

Gene Tree for CFI (if available)
Gene Tree for CFI (if available)

Paralogs for CFI Gene

No data available for Paralogs for CFI Gene

Variants for CFI Gene

Sequence variations from dbSNP and Humsavar for CFI Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs121964912 Pathogenic, Complement factor I deficiency (CFI deficiency) [MIM:610984] 109,746,398(-) TTTCC(A/T)TGAAA reference, missense
rs121964914 other, Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] 109,741,074(-) AGGGG(A/T)CTCTG intron-variant, downstream-variant-500B, reference, missense
rs121964916 Pathogenic, Complement factor I deficiency (CFI deficiency) [MIM:610984] 109,760,567(-) TGATG(A/G)TATCA reference, missense
rs121964917 other, Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] 109,749,594(-) GAAGA(C/T)GGATA reference, missense
rs121964918 other, Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] 109,741,090(-) CCATC(A/G)ATGCC intron-variant, downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CFI Gene

Variant ID Type Subtype PubMed ID
nsv966307 CNV duplication 23825009
nsv956423 CNV deletion 24416366
nsv4463 CNV deletion 18451855
nsv1136900 CNV deletion 24896259
nsv1117115 CNV deletion 24896259
nsv1073365 CNV deletion 25765185
esv3569652 CNV loss 25503493
esv26742 CNV gain 19812545
esv1651639 CNV deletion 17803354

Variation tolerance for CFI Gene

Residual Variation Intolerance Score: 82.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 39.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFI Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFI Gene

Disorders for CFI Gene

MalaCards: The human disease database

(19) MalaCards diseases for CFI Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
complement factor i deficiency
  • c3 inactivator deficiency
hemolytic uremic syndrome, atypical 3
  • atypical hemolytic-uremic syndrome with i factor anomaly
macular degeneration, age-related, 13
  • age related macular degeneration 13
  • afibrinogenemia congenital
afibrinogenemia, congenital
  • hypofibrinogenemia, congenital
- elite association - COSMIC cancer census association via MalaCards
Search CFI in MalaCards View complete list of genes associated with diseases


  • Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated with a propensity to pyogenic infections. {ECO:0000269 PubMed:12562389, ECO:0000269 PubMed:17018561, ECO:0000269 PubMed:8613545}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269 PubMed:15173250, ECO:0000269 PubMed:16621965, ECO:0000269 PubMed:17106690, ECO:0000269 PubMed:20513133}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
  • Macular degeneration, age-related, 13 (ARMD13) [MIM:615439]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269 PubMed:23685748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for CFI

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFI: view

No data available for Genatlas for CFI Gene

Publications for CFI Gene

  1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PMID: 20513133) Maga TK … Smith RJ (Human mutation 2010) 3 4 45 60
  2. Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific. (PMID: 18825487) Yuasa I … Henke J (Journal of human genetics 2008) 3 22 45 60
  3. A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. (PMID: 17106690) Geelen J … van den Heuvel L (Pediatric nephrology (Berlin, Germany) 2007) 3 4 22 60
  4. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PMID: 16621965) Caprioli J … International Registry of Recurrent and Familial HUS/TTP (Blood 2006) 3 4 45 60
  5. Cloning and characterization of the promoter for the human complement factor I (C3b/C4b inactivator) gene. (PMID: 9479036) Minta JO … Goldberger G (Gene 1998) 3 4 22 60

Products for CFI Gene

Sources for CFI Gene

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