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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CFI
complement factor I
Chromosome 4 · 4q25
NCBI Gene: 3426Ensembl: ENSG00000205403.15HGNC: HGNC:5394UniProt: A8K3L0
143PubMed Papers
23Diseases
0Drugs
133Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomeGO:0005615protein processingcomplement factor I deficiencyatypical hemolytic-uremic syndrome with I factor anomalyage-related macular degenerationatypical hemolytic-uremic syndrome
✦AI Summary

Complement Factor I (CFI) is a trypsin-like serine protease essential for regulating all complement pathways by inactivating C3b and C4b through proteolytic cleavage 1. CFI requires cofactors—factor H and C4BP in fluid phase, or membrane cofactor protein/CD46 and CR1 on cell surfaces—to execute these regulatory functions 2. This cofactor dependency creates a discrimination mechanism: healthy cells with these cofactors allow CFI-mediated C3b degradation, preventing inappropriate complement activation, while apoptotic cells and microbes lacking cofactors undergo complement-mediated opsonization 3. Complete CFI deficiency causes heightened susceptibility to infections, particularly from encapsulated organisms like Neisseria meningitidis, alongside immune dysregulatory manifestations including rheumatologic, neurologic, and renal disorders 4. CFI expression is upregulated by interleukin-6 through increased transcription and mRNA stability, indicating inflammatory regulation of complement control 5. Genetic variations in CFI, particularly the rs10033900 polymorphism, associate with age-related macular degeneration risk, with C-allele carriers showing decreased disease susceptibility 6. Early diagnosis of CFI deficiency and targeted therapies like eculizumab demonstrate clinical benefit 4, establishing CFI as a critical immune checkpoint warranting therapeutic intervention.

Sources cited
1
CFI cleaves peptide bonds in C3b and C4b alpha-chains to inactivate these complement proteins
PMID: 17320177
2
Factor H and C4BP serve as essential cofactors for CFI in the fluid phase
PMID: 12055245
3
Cofactor presence on healthy cells allows CFI-mediated C3b degradation; their absence on apoptotic cells and microbes leads to complement activation
PMID: 28671664
4
Complete CFI deficiency causes susceptibility to infections (especially encapsulated organisms) and immune dysregulatory disorders; eculizumab shows clinical benefit
PMID: 40713518
5
Interleukin-6 increases CFI gene expression through enhanced transcription and mRNA stability
PMID: 9804975
6
CFI rs10033900 polymorphism C-allele/CC genotype associates with decreased age-related macular degeneration risk
PMID: 32215612
Disease Associationsⓘ23
complement factor I deficiencyOpen Targets
0.80Strong
atypical hemolytic-uremic syndrome with I factor anomalyOpen Targets
0.80Strong
age-related macular degenerationOpen Targets
0.71Strong
atypical hemolytic-uremic syndromeOpen Targets
0.64Moderate
macular degenerationOpen Targets
0.55Moderate
retinopathyOpen Targets
0.54Moderate
degeneration of macula and posterior poleOpen Targets
0.50Moderate
complement 3 glomerulopathyOpen Targets
0.47Moderate
complement deficiencyOpen Targets
0.46Moderate
COVID-19Open Targets
0.37Weak
atypical hemolytic uremic syndrome with complement gene abnormalityOpen Targets
0.37Weak
Familial drusenOpen Targets
0.37Weak
wet macular degenerationOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.28Weak
atrophic macular degenerationOpen Targets
0.27Weak
peroxisome biogenesis disorder 4A (Zellweger)Open Targets
0.27Weak
dry age related macular degenerationOpen Targets
0.25Weak
C3 glomerulonephritisOpen Targets
0.24Weak
ThrombocytopeniaOpen Targets
0.22Weak
genetic disorderOpen Targets
0.19Weak
Complement factor I deficiencyUniProt
Hemolytic uremic syndrome, atypical, 3UniProt
Macular degeneration, age-related, 13UniProt
Pathogenic Variants133
NM_000204.5(CFI):c.1450_1454del (p.Leu484fs)Pathogenic
not provided|Factor I deficiency|CFI-related disorder
★★☆☆2026→ Residue 484
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)Pathogenic
not provided|Factor I deficiency|Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13|CFI-related disorder|Colon adenocarcinoma
★★☆☆2026→ Residue 258
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)Pathogenic
not provided|Factor I deficiency|Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13;Factor I deficiency|CFI-related disorder
★★☆☆2025→ Residue 393
NM_000204.5(CFI):c.1139A>G (p.His380Arg)Pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 380
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)Pathogenic
Atypical hemolytic-uremic syndrome with I factor anomaly|not provided|Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13;Factor I deficiency|CFI-related disorder
★★☆☆2025→ Residue 187
NM_000204.5(CFI):c.1429+1G>CPathogenic
not provided|Atypical hemolytic-uremic syndrome|Atypical hemolytic-uremic syndrome with I factor anomaly;Factor I deficiency;Age related macular degeneration 13|CFI-related disorder
★★☆☆2025
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)Pathogenic
Atypical hemolytic-uremic syndrome with I factor anomaly|not provided|CFI-related disorder|Age related macular degeneration 13
★★☆☆2025→ Residue 474
NM_000204.5(CFI):c.434G>A (p.Trp145Ter)Pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 145
NM_000204.5(CFI):c.786del (p.Gly263fs)Pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 263
NM_000204.5(CFI):c.893del (p.Ser298fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome
★★☆☆2025→ Residue 298
NM_000204.5(CFI):c.111dup (p.Tyr38fs)Likely pathogenic
not provided|CFI-related disorder
★★☆☆2025→ Residue 38
NM_000204.5(CFI):c.563G>T (p.Gly188Val)Pathogenic
not provided|Factor I deficiency
★★☆☆2025→ Residue 188
NM_000204.5(CFI):c.904+1G>APathogenic
not provided|Atypical hemolytic-uremic syndrome
★★☆☆2025
NM_000204.5(CFI):c.80_81del (p.Asp27fs)Pathogenic
not provided|Atypical hemolytic-uremic syndrome|Age related macular degeneration 13;Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly|CFI-related disorder
★★☆☆2025→ Residue 27
NM_000204.5(CFI):c.1149-2A>TLikely pathogenic
not provided|CFI-related disorder
★★☆☆2025
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)Pathogenic
Atypical hemolytic-uremic syndrome|not provided|CFI-related disorder
★★☆☆2025→ Residue 336
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)Pathogenic
not provided|Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13|Factor I deficiency|CFI-related disorder
★★☆☆2025→ Residue 411
NM_000204.5(CFI):c.1646del (p.Asn549fs)Pathogenic
CFI-related disorder
★★☆☆2025→ Residue 549
NM_000204.5(CFI):c.1415G>A (p.Trp472Ter)Pathogenic
not provided|Atypical hemolytic-uremic syndrome
★★☆☆2025→ Residue 472
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)Pathogenic
Factor I deficiency;Atypical hemolytic-uremic syndrome with I factor anomaly;Age related macular degeneration 13|CFI-related disorder
★★☆☆2025→ Residue 255
View on ClinVar ↗
Related Genes
C3Protein interaction100%CR1Protein interaction100%F2Protein interaction100%CFPProtein interaction100%CD46Protein interaction100%MBL2Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Ovary
8%
Lung
4%
Heart
2%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CFIC3CR1F2CFPCD46MBL2
PROTEIN STRUCTURE
Preparing viewer…
PDB2XRC · 2.69 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.68–1.08]
RankingsWhere CFI stands among ~20K protein-coding genes
  • #3,190of 20,598
    Most Researched143 · top quartile
  • #582of 5,498
    Most Pathogenic Variants133 · top quartile
  • #10,898of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCFI
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Comparative fit indexes in structural models.
PMID: 2320703
Psychol Bull · 1990
1.00
2
Measuring Frailty in Medicare Data: Development and Validation of a Claims-Based Frailty Index.
PMID: 29244057
J Gerontol A Biol Sci Med Sci · 2018
0.90
3
Complement family member CFI polymorphisms and AMD susceptibility from a comprehensive analysis.
PMID: 32215612
Biosci Rep · 2020
0.80
4
Preclinical characterization and clinical trial of CFI-400945, a polo-like kinase 4 inhibitor, in patients with relapsed/refractory acute myeloid leukemia and higher-risk myelodysplastic neoplasms.
PMID: 38114624
Leukemia · 2024
0.70
5
Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.
PMID: 40713518
BMC Immunol · 2025
0.60