CFI - complement factor I Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3426

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16237761	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CFI Protein Structure

SRCR

Ldl_recept_a

Trypsin

0
100
200
300
400
500
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

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (4)

Cat. No.	상품명	효과	Purity	Phase
HY-12300	Ocifisertib		99.78%	Phase 2
HY-101340A	Luvixasertib hydrochloride	Inhibitor	99.63%	Phase 2
HY-12300B	Ocifisertib fumarate	Inhibitor	98.69%	Phase 2
HY-101340	Luvixasertib	Inhibitor	99.9600%	Phase 1

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-132135	(1E)-CFI-400437 dihydrochloride	Inhibitor	98.08%	Unkown
HY-12300A	Ocifisertib hydrochloride		98.29%	Unkown
HY-116190	CFI-401870	Inhibitor	/	Unkown
HY-120032	CFI-401980	Inhibitor	/	Unkown
HY-120279A	CFI-400437	Inhibitor	/	Unkown
HY-123675	CFI-400936	Inhibitor	/	Unkown
HY-RS02567	CFI Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20677	Cfi Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27188	Cfi Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	CFI	NCBI