1. Gene
  2. CFI - complement factor I Gene

CFI - complement factor I Gene

Homo sapiens

Also known as FI; IF; KAF; AHUS3; ARMD13; C3BINA; C3b-INA

Gene ID: 3426 | Gene type: protein coding

About CFI

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:109,730,982-109,801,999 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues, 16 paralogues and is associated with 9 phenotypes. Biased expression in liver (RPKM 171.8), kidney (RPKM 63.6) and 9 other tissues.

Summary

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]

CFI Products(10)

mRNA Protein Name
NM_000204.5 NP_000195.3 complement factor I isoform 2 preproprotein
NM_001318057.2 NP_001304986.2 complement factor I isoform 1 preproprotein
NM_001331035.2 NP_001317964.1 complement factor I isoform 3 preproprotein
NM_001375278.1 NP_001362207.1 complement factor I isoform 4 preproprotein
NM_001375279.1 NP_001362208.1 complement factor I isoform 5 preproprotein
NM_001375280.1 NP_001362209.1 complement factor I isoform 6 preproprotein
NM_001375281.1 NP_001362210.1 complement factor I isoform 7 preproprotein
NM_001375282.1 NP_001362211.1 complement factor I isoform 8 preproprotein
NM_001375283.1 NP_001362212.1 complement factor I isoform 9 preproprotein
NM_001375284.1 NP_001362213.1 complement factor I isoform 10

CFI Protein Structure

SRCR

SRCR: Scavenger receptor cysteine-rich domain (118 - 214)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (225 - 256)

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (258 - 293)

Trypsin

Trypsin: Trypsin (340 - 569)

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  • 583 a.a.
Protein Preferred Names Protein Names

complement factor I

C3B/C4B inactivator

Related Diseases

Diseases Alias
Complement Factor I Deficiency

Complement Component 3 Inactivator Deficiency

C3 Inactivator Deficiency

Hereditary Factor I Deficiency Disease

C3 Glomerulopathy 2

CFID

C3g2

Immunodeficiency With Factor I Anomaly

Complete Factor I Deficiency

CFI DEFICIENCY

Deficiency, Complement Factor I

Complement Factor I Deficiency

Deficiency Of Factor 1

Hereditary Fibrinogen Deficiency

Deficiency Of Fibrinogen

Congenital Fibrinogenopenia

Macular Degeneration, Age-Related, 13

Age Related Macular Degeneration 13

ARMD13

Macular Degeneration, Age-Related, 13, Susceptibility To

Macular Degeneration, Age-Related, Type 13

Hemolytic Uremic Syndrome, Atypical 3

AHUS3

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3

Atypical Hemolytic-Uremic Syndrome With I Factor Anomaly

Ahus 3

Ahus, Susceptibility To, 3

Hemolytic Uremic Syndrome Atypical 3

Atypical Hemolytic Uremic Syndrome With I Factor Anomaly

Afibrinogenemia, Congenital

Congenital Afibrinogenemia

Afibrinogenemia

Factor I Deficiency

Familial Afibrinogenemia

Hypofibrinogenemia, Congenital

Fibrinogen Deficiency

Afibrinogenemia Congenital

CAFBN

Congenital Hypofibrinogenemia

Hypofibrinogenemia

Complement Factor I Deficiency

Familial Drusen

Malattia Leventinese

Doyne Honeycomb Retinal Dystrophy

Dhrd

Dominant Drusen

Dominant Radial Drusen

Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality

Atypical Hus With Complement Gene Abnormality

Ahus With Complement Gene Abnormality

Hellp Syndrome

Hemolysis, Elevated Liver Enzymes, Lowered Platelets

Hemolysis, Elevated Liver Enzymes, Low Platelets In Pregnancy

Hemolysis-Elevated Liver Enzymes-Low Platelets Syndrome

Hellp - [Syndrome Of Haemolysis, Elevated Liver Enzymes And Low Platelet]

Haemolysis-Elevated Liver Enzymes-Low Platelet Count Syndrome

Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome

Haemolytic-Uraemic Syndrome

Hus

Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes

Typical Haemolytic Uraemic Syndrome

Gasser Syndrome

Hus - [Haemolytic Uraemic Syndrome]

De Novo Thrombotic Microangiopathy After Kidney Transplantation
Glomerulonephritis

Bright'S Disease

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

D-Minus Hemolytic Uremic Syndrome

Atypical Hus

Atypical Hemolytic Uremic Syndrome

Hus, Atypical

Ahus

Meningitis

Streptococcal Meningitis

Acute Streptococcal Meningitis

Staphylococcal Meningitis

Adenoviral Meningitis

Influenza Meningitis

Influenzal Meningitis

Meningitis Due To H. Influenzae

Cryptococcal Meningitis

Fungal Meningitis Due To Cryptococcus Neoformans

Cryptococcosis Meningitis

Cryptococcus Meningitis

Cryptococcal Meningoencephalitis

Meningitis Due To Cryptococcus

Mumps Virus Meningitis

Mumps Meningitis

Thrombotic Thrombocytopenic Purpura

Purpura, Thrombotic Thrombocytopenic

Ttp

Thrombotic Thrombocytopenic Purpura, Acquired

Idiopathic Thrombotic Thrombocytopenic Purpura

Moschcowitz Disease

Moschcowitz'S Syndrome

Moschowitz Syndrome

Chronic Relapsing Thrombotic Thrombocytopenic Purpura

Familial Thrombotic Thrombocytopenia Purpura

Moschkowitz Disease

Purpura Thrombotic Thrombocytopenic

Familial Thrombotic Thrombocytopenic Purpura

Microangiopathic Hemolytic Anemia

Congenital Thrombotic Thrombocytopenic Purpura

Autoimmune Thrombotic Thrombocytopenic Purpura

Ttp - [Thrombotic Thrombocytopenic Purpura]

Moschcowitz Syndrome

Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Hemoglobinuria
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Macular Degeneration, Age-Related, 1

Macular Degeneration

Age-Related Macular Degeneration

Macular Degeneration, Age-Related

Age Related Macular Degeneration

Age Related Macular Degeneration 1

ARMD1

Senile Macular Degeneration

Maculopathy, Age-Related, 1

Macular Degeneration, Age-Related, Reduced Risk Of

Age Related Maculopathy 1

Age Related Maculopathies

Age Related Maculopathy

Senile Macular Retinal Degeneration

Macular Degeneration Of Retina

Age-Related Maculopathy

Amd

Armd

Age-Related Maculopathy, Susceptibility To

Maculopathy Age-Related

Macular Degeneration, Age-Related, 1, Susceptibility To

Maculopathy, Age-Related

Macular Degeneration, Age-Related, Type 1

Macular Degeneration, Age-Related, 2

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

Lyme Disease

Lyme Borreliosis

Lyme Neuroborreliosis

Borreliosis

Borrelia Burgdorferi Infection

Neuroborreliosis

Bannwarth Syndrome

Bannworth'S Syndrome

Neurological Lyme Disease

B. Burgdorferi Infection

Borreliosis, Lyme

Infection By Borrelia Burgdorferi

Infection Due To Borrelia Burgdorferi Sensu Lato

Lym

Borrelia Infections

Laron Syndrome

Growth Hormone Insensitivity Syndrome

Growth Hormone Receptor Deficiency

Laron Dwarfism

Pituitary Dwarfism Ii

Laron-Type Isolated Somatotropin Defect

Primary Growth Hormone Resistance

Laron-Type Dwarfism

Laron Type Pituitary Dwarfism I

Primary Growth Hormone Insensitivity

Primary Gh Resistance

Gh-R Deficiency

Growth Hormone Receptor Defect

Laron-Type Pituitary Dwarfism

Laron-Type Short Stature

Severe Gh Insensitivity

Ghis

Short Stature Due To A Defect In Growth Hormone Receptor Or Post-Receptor Pathway

Complete Growth Hormone Insensitivity

Gh Receptor Deficiency

Primary Gh Insensitivity

Short Stature Due To Growth Hormone Resistance

LARS

Acute Hemorrhagic Leukoencephalitis

Ahl

Acute Haemorrhagic Leucoencephalitis Of Weston Hurst

Leukoencephalitis, Acute Hemorrhagic

Acute Hemorrhagic Encephalomyelitis

Acute Necrotizing Hemorrhagic Leukoencephalitis

Weston-Hurst Syndrome

Ahle

Acute Haemorrhagic Leucoencephalitis

Hurst Disease

Acute Haemorrhagic Leukoencephalitis, Postimmunization Or Postvaccinal

Postimmunization Or Postvaccinal Leukoencephalopathy

Degeneration Of Macula And Posterior Pole

Degeneration Of Macula And Posterior Pole Of Retina

Degeneration Of Macula Or Posterior Pole

Macular Degeneration Nos

Degenerative Disorder Of Macula

Drusen Macular Degeneration

Posterior Pole Macular Degeneration Of Eye

Macular Eye Degeneration

Macular Degeneration Of Retina, Unspecified

Pseudohole Degeneration Of Macula Of Retina

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

Basal Laminar Drusen

Drusen Of Bruch Membrane

Drusen, Cuticular

Drusen, Early Adult-Onset, Grouped

Cuticular Drusen

Early Adult-Onset Grouped Drusen

BLD

Drusen Cuticular

Drusen Early Adult-Onset Grouped

Complement Component 3 Deficiency

C3 Deficiency

Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis

Dense Deposit Disease

Membranoproliferative Glomerulonephritis Type 2

Primary Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis, Type Ii

Glomerulonephritis, Membranoproliferative

Chronic Glomerulonephritis, Lobular

Lobular Glomerulonephritis

Ddd

Glomerulonephritis Membranoproliferative Type 2

Mpgn 2

Membranoproliferative Glomerulonephritis Type Ii

Mesangiocapillary Glomerulonephritis Type 2

Mpgn

Primary Mpgn

Glomerulonephritis Membranoproliferative

Membranoproliferative Glomerulonephritis, Type Ii

Retinal Drusen
Systemic Lupus Erythematosus

Lupus Nephritis

SLE

Disseminated Lupus Erythematosus

Systemic Lupus Erythematosus, Susceptibility To

Lupus Erythematosus, Systemic

Lupus Nephritis, Susceptibility To

Libman-Sacks Disease

Systemic Lupus Erythematosus Susceptibility To

Sle - Lupus Erythematosus, Systemic

Le Syndrome

Lupus

Lupus Erythematosus Systemic

Lupus Erythematosus, Systemic, Susceptibility To

Lupus Vulgaris

Lupus Erythematosus, Discoid

Lupus Erythematosus

Systemic Lupus Erythematosus Nos

Sle - [Systemic Lupus Erythematosus]

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC

Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria And Homocystinuria Type Cblc

Cobalamin C Disease

Methylmalonic Acidemia With Homocystinuria Cblc

Methylmalonic Acidemia And Homocystinuria, Cblc Type

Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

Cobalamin C Deficiency

Methylmalonic Acidemia With Homocystinuria, Type Cblc

Cblc Defect

Cobalamin C Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria With Homocystinuria, Type Cblc

Methylmalonic Acidemia And Homocystinuria Cblc Type

Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

Methylmalonic Acidemia With Homocystinuria

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Alcohol Dependence

Alcoholism

Alcohol Dependence, Susceptibility To

Alcohol Dependence, Protection Against

Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

Alcoholism, Susceptibility To

Alcoholic Intoxication, Chronic

Pharyngeal Neoplasms

Chronic Alcoholism

Dipsomania

Alcohol Addiction

Ethanol Dependence

Chronic Ethanolism

Chronic Alcoholic Disease Nos

Alcoholic Disease Nos

Alcoholic

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CFI VGNC VGNC:27252
Rattus norvegicus CFI RGD RGD:620429
Felis catus CFI VGNC VGNC:78468
Mus musculus CFI MGD MGI:105937
Canis familiaris CFI VGNC VGNC:39176