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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 3.4.21.45 4
  • EC 3.4.21 63
  • 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 Hemolytic Uremic Syndrome, Atypical 3 and Complement Factor I Deficiency. Among its related pathways are Immune response Lectin induced complement pathway and Immune System. 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

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFI on UCSC Golden Path with GeneCards custom track

Promoters for CFI Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CFI on UCSC Golden Path with GeneCards custom track

Genomic Location for CFI Gene

Chromosome:
4
Start:
109,731,221 bp from pter
End:
109,802,225 bp from pter
Size:
71,005 bases
Orientation:
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:
    P05156-CFAI_HUMAN
    Recommended name:
    Complement factor I
    Protein Accession:
    P05156
    Secondary Accessions:
    • O60442

    Protein attributes for CFI Gene

    Size:
    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.
    SequenceCaution:
    • 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

Proteomics data for CFI Gene at MOPED

Selected DME Specific Peptides for CFI Gene

Post-translational modifications for CFI Gene

  • Glycosylation at Asn 70, Asn 103, Asn 177, Asn 464, Asn 494, and Asn 536
  • Modification sites at PhosphoSitePlus

Other Protein References for CFI Gene

Domains & Families for CFI Gene

Gene Families for CFI Gene

Suggested Antigen Peptide Sequences for CFI Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05156

UniProtKB/Swiss-Prot:

CFAI_HUMAN :
  • Contains 1 Kazal-like domain.
  • Belongs to the peptidase S1 family.
Domain:
  • Contains 1 Kazal-like domain.
  • Contains 2 LDL-receptor class A domains.
  • Contains 1 peptidase S1 domain.
  • Contains 1 SRCR domain.
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

Gene Ontology (GO) - Molecular Function for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
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 tm1b(EUCOMM)Hmgu
  • Cfi tm1Mcp

Animal Model Products

miRNA for CFI Gene

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

COMPARTMENTS
Jensen Localization Image for CFI Gene COMPARTMENTS Subcellular localization image for CFI gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CFI Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CFI: view

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:0006958 complement activation, classical pathway IEA --
GO:0045087 innate immune response IEA,TAS --
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

(17) Drugs for CFI Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adjuvants, Immunologic Pharma 2397
Immunologic Factors Pharma 23243
lenograstim Pharma 1169

(10) 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:

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

No ASD Table

Relevant External Links for CFI Gene

GeneLoc Exon Structure for
CFI
ECgene alternative splicing isoforms for
CFI

Expression for CFI Gene

mRNA expression in normal human tissues 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, MOPED, and MaxQB for CFI Gene



SOURCE GeneReport for Unigene cluster for CFI Gene Hs.312485

mRNA Expression by UniProt/SwissProt for CFI Gene

P05156-CFAI_HUMAN
Tissue specificity: Plasma.
genes like me logo Genes that share expression patterns with CFI: view

Protein tissue co-expression partners for CFI Gene

- Elite partner

Primer Products

Orthologs for CFI Gene

This gene was present in the common ancestor of animals.

Orthologs for CFI Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CFI 35
  • 80.5 (n)
  • 71.7 (a)
CFI 36
  • 64 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CFI 35
  • 81.35 (n)
  • 72.2 (a)
CFI 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cfi 35
  • 76.86 (n)
  • 70.79 (a)
Cfi 16
Cfi 36
  • 65 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CFI 35
  • 98.91 (n)
  • 98.11 (a)
CFI 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cfi 35
  • 77.21 (n)
  • 71.65 (a)
oppossum
(Monodelphis domestica)
Mammalia CFI 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CFI 36
  • 49 (a)
OneToOne
chicken
(Gallus gallus)
Aves CFI 35
  • 62.63 (n)
  • 53.02 (a)
CFI 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
OneToMany
-- 36
  • 47 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cfi 35
  • 60.05 (n)
  • 55.01 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1143 35
zebrafish
(Danio rerio)
Actinopterygii cfi 35
  • 52.73 (n)
  • 45.17 (a)
CFI 36
  • 34 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG1632 36
  • 8 (a)
ManyToMany
Corin 36
  • 9 (a)
ManyToMany
ndl 36
  • 4 (a)
ManyToMany
Species with no ortholog for CFI:
  • 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

ENSEMBL:
Gene Tree for CFI (if available)
TreeFam:
Gene Tree for CFI (if available)

Paralogs for CFI Gene

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

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
VAR_026757 Complement factor I deficiency (CFI deficiency)
VAR_030343 Hemolytic uremic syndrome atypical 3 (AHUS3)
VAR_030344 Hemolytic uremic syndrome atypical 3 (AHUS3)
VAR_034907 Complement factor I deficiency (CFI deficiency)
rs11098044 - 109,757,769(+) TTGAG(C/T)CACAG intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv4463 CNV Loss 18451855
esv1651639 CNV Deletion 17803354
esv26742 CNV Gain 19812545

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)
CFI

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

Disorders for CFI Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 3
  • hemolytic uremic syndrome, atypical, susceptibility to, 3
complement factor i deficiency
  • c3 inactivator deficiency
macular degeneration, age-related, 13
  • armd13
intrinsic factor deficiency
  • congenital intrinsic factor deficiency
immunodeficiency with factor i anomaly
- elite association - COSMIC cancer census association via MalaCards
Search CFI in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CFAI_HUMAN
  • 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)
CFI
Human Genome Epidemiology (HuGE) Navigator
CFI
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFI
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 T.K. … Smith R.J.H. (Hum. Mutat. 2010) 3 4 48 67
  2. Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. (PMID: 19877009) Nilsson S.C. … Blom A.M. (Eur. J. Immunol. 2010) 3 23
  3. Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome. (PMID: 20016463) Bienaime F. … Fremeaux-Bacchi V. (Kidney Int. 2010) 3 23
  4. Analysis of binding sites on complement factor I that are required for its activity. (PMID: 20044478) Nilsson S.C. … Blom A.M. (J. Biol. Chem. 2010) 3 23
  5. Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient. (PMID: 18805611) Chan M.R. … Samaniego M.D. (Am. J. Kidney Dis. 2009) 3 23

Products for CFI Gene

Sources for CFI Gene

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