Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3426
Gene name Gene Name - the full gene name approved by the HGNC.	Complement factor I
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CFI
Synonyms (NCBI Gene) Gene synonyms aliases	AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q25
Summary Summary of gene provided in NCBI Entrez 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 hete

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs112534524	C>G,T	Pathogenic, likely-benign	Missense variant, coding sequence variant, non coding transcript variant
rs121964912	T>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121964913	G>A,T	Risk-factor	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs121964914	T>A,C	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant, intron variant
rs121964915	C>A,T	Risk-factor	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant, downstream transcript variant, non coding transcript variant, intron variant
rs121964916	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs121964917	G>A	Risk-factor	Missense variant, coding sequence variant, non coding transcript variant
rs121964918	C>T	Risk-factor	Coding sequence variant, genic downstream transcript variant, missense variant, downstream transcript variant, non coding transcript variant, intron variant
rs141853578	C>T	Uncertain-significance, risk-factor	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs200419722	C>T	Likely-pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs368615806	G>A	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs371432629	C>T	Risk-factor	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs752671716	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant, intron variant
rs758049059	->AT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, intron variant
rs772044176	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs886043418	AT>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1292929833	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1553915717	G>C	Pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant
rs1579173999	C>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018438	hsa-miR-335-5p	Microarray	18185580
MIRT025158	hsa-miR-181a-5p	Microarray	17612493
MIRT029753	hsa-miR-26b-5p	Microarray	19088304

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
NFKB1	Activation	10630630
RELA	Activation	10630630

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	2956252, 8604219
GO:0005515	Function	Protein binding	IPI	16237761
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0006508	Process	Proteolysis	IEA
GO:0006956	Process	Complement activation	IEA
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
217030	5394	ENSG00000205403

Protein

UniProt ID

P05156

Protein name

Complement factor I (EC 3.4.21.45) (C3B/C4B inactivator) [Cleaved into: Complement factor I heavy chain; Complement factor I light chain]

Protein function

Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chai

PDB

2XRC , 5O32

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00530	SRCR	117 → 215	Scavenger receptor cysteine-rich domain	Domain
PF00057	Ldl_recept_a	223 → 256	Low-density lipoprotein receptor domain class A	Repeat
PF00057	Ldl_recept_a	257 → 293	Low-density lipoprotein receptor domain class A	Repeat
PF00089	Trypsin	340 → 569	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the liver by hepatocytes (PubMed:6327681). Also present in other cells such as monocytes, fibroblasts or keratinocytes (PubMed:17320177, PubMed:6444659). {ECO:0000269|PubMed:17320177, ECO:0000269|PubMed:6327681, ECO:000026

Sequence

MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCV
CKLPYQCPKNGTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGN
TDSEGIVEVKLVDQDKTMFICKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTE
CLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDDFFQCVNGKYISQMKA
CDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVT
QEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDA
SGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHEN
YNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNER
VFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYV
WGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV

Sequence length

583

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades Staphylococcus aureus infection		Regulation of Complement cascade

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hemolytic Uremic Syndrome	Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome	rs121964913, rs886043418, rs368615806, rs1579173999	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Complement Component Deficiency	complement factor I deficiency	N/A	N/A	GenCC
focal segmental glomerulosclerosis	Focal segmental glomerulosclerosis	N/A	N/A	ClinVar
Kidney Disease	Chronic kidney disease	N/A	N/A	ClinVar
Macular Degeneration	Macular degeneration	N/A	N/A	GWAS
Metabolic Syndrome	Serum bilirubin levels x sex interaction in metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alternating hemiplegia of childhood	Associate	25188723
Androgen Insensitivity Syndrome	Associate	31671693
Anti Glomerular Basement Membrane Disease	Associate	22834933
Arterial Occlusive Diseases	Associate	28484274
Asthma	Associate	30366082
Atrial Fibrillation	Associate	32389013
Atypical Hemolytic Uremic Syndrome	Associate	19459807, 20016463, 20118898, 20595690, 21103695, 22410797, 22622361, 29500241, 29888403, 30377230, 34643860, 35069568, 35619721, 36755127, 37363824, 37466676, 37611541 View all (2 more)
Autoimmune Diseases of the Nervous System	Associate	35619721
Brain Neoplasms	Associate	26849056
Breast Neoplasms	Associate	25618258
Carcinoma Non Small Cell Lung	Associate	25394898
Cataract	Associate	26900322
Choroidal Neovascularization	Associate	22678500
Chronic Kidney Disease Mineral and Bone Disorder	Associate	30356754
Colitis Ulcerative	Associate	22826509
Complement Factor H Deficiency	Associate	35619721, 37615951
Complement Factor I Deficiency	Associate	20016463, 21316765, 35531992, 36577522, 37611541
COVID 19	Associate	34997957
Death	Associate	35090402
Dry Eye Syndromes	Associate	25352734
Encephalitis Herpes Simplex	Associate	31635417
Endometrial Neoplasms	Associate	36807337
Eosinophilia	Associate	37611541
Epilepsy	Associate	26742644
Genetic Diseases Inborn	Associate	28056875
Geographic Atrophy	Associate	34153144, 37478687
Glomerulonephritis IGA	Associate	28637589, 30356754
Glomerulonephritis Membranoproliferative	Associate	22834933
Glomerulonephritis With Isolated C3 Deposits And Factor I Deficiency	Associate	29370420, 29940891
Glycogen Storage Disease Type II	Associate	18685559, 30366082, 32510551, 36067162
Hemolytic Uremic Syndrome	Associate	19459807, 20118898, 22834933, 24005975, 25188723, 34330731, 34997957, 35241161, 37478687
Heredodegenerative Disorders Nervous System	Associate	36941072
HIV Infections	Associate	28862830
Immunologic Deficiency Syndromes	Associate	23731345, 24005975, 29370420, 31440263, 36941072
Inflammation	Associate	22678500, 22826509, 25188723, 36941072, 37339889
Kidney Diseases	Associate	35241161
Kidney Failure Chronic	Associate	20016463, 37615951
Leukocytosis	Associate	36941072
Macular Degeneration	Associate	19661236, 20385819, 22694956, 24036952, 25352734, 26765636, 26767664, 29410599, 31583032, 31795454, 32516404, 32717343, 32908800, 34153144, 35069568 View all (8 more)
Meningism	Associate	37339889
Meningitis Aseptic	Associate	37339889
Mental Disorders	Associate	35285476
Multiple Sclerosis	Associate	38218802
Muscular Atrophy	Associate	35584395
Myocardial Infarction	Stimulate	32389013
Nephrotic Syndrome	Associate	36070894
Neurologic Manifestations	Associate	37339889
Osteoarthritis	Associate	18775662, 37006267
Periodontitis	Associate	38218802
Peritoneal Fibrosis	Stimulate	28673451
Pneumococcal Infections	Associate	36070894
Prostatic Hyperplasia	Stimulate	22952051
Purpura	Stimulate	35747245
Respiratory Tract Infections	Associate	29940891
Reticular dysgenesis	Associate	34153144, 35136347
Retinal Detachment	Associate	30142373
Retinal Drusen	Associate	33088170
Sjogren's Syndrome	Associate	34349764
Tachycardia Sinoatrial Nodal Reentry	Stimulate	34737220
Thrombotic Microangiopathies	Associate	18557729, 22834933, 29940891, 36070894, 37615951, 37984551, 38408703
Urinary Bladder Neoplasms	Associate	40283026
Uveitis	Associate	26900322
Uveomeningoencephalitic Syndrome	Associate	26900322
Vasculitis	Associate	36941072
Vasculitis Leukocytoclastic Cutaneous	Associate	29696024, 35747245
Yin Deficiency	Inhibit	31922655

CFI (complement factor I)