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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3426
Gene name	Complement factor I
Gene symbol	CFI
Synonyms (NCBI Gene)	AHUS3ARMD13C3BINAC3b-INAFIIFKAF
Chromosome	4
Chromosome location	4q25
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 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

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

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

681

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Age related macular degeneration 13	Likely pathogenic; Pathogenic	rs368555424, rs2126178088, rs2126214430, rs1425827135, rs199688124, rs757053954, rs758049059, rs886043418, rs121964913, rs752671716, rs368615806	RCV002504628 RCV001535876 RCV001535832 RCV005023273 RCV002507693 RCV005025900 RCV002500970 RCV002494859 RCV005859458 RCV002490923 RCV002507347
Atypical hemolytic-uremic syndrome	Likely pathogenic; Pathogenic	rs368555424, rs2545375332, rs886043418, rs1303038263, rs1381469349, rs759676430	RCV002294457 RCV005864639 RCV002294216 RCV005864676 RCV005864677 RCV001328246
Atypical hemolytic-uremic syndrome with I factor anomaly	Likely pathogenic; Pathogenic	rs368555424, rs2126178088, rs2126214430, rs1425827135, rs199688124, rs757053954, rs758049059, rs886043418, rs121964913, rs121964914, rs121964915, rs2545377389, rs2545457659, rs2545358074, rs750850949 View all (3 more)	RCV002504628 RCV001535876 RCV001535832 RCV005023273 RCV002507693 RCV005025900 RCV002500970 RCV002494859 RCV000012904 RCV000012905 RCV000012906 RCV003324612 RCV003984926 RCV004555431 RCV004556940 RCV002490923 RCV000778715 RCV001029951
CFI-related disorder	Likely pathogenic; Pathogenic	rs1723935867, rs368555424, rs1352826089, rs760688154, rs199688124, rs752767269, rs1445308792, rs1339444612, rs1478645822, rs758049059, rs886043418, rs121964913, rs121964914, rs121964915, rs1560546604 View all (4 more)	RCV004528560 RCV005864563 RCV005864569 RCV005864570 RCV004542199 RCV005864608 RCV002291528 RCV005864658 RCV005864662 RCV004535248 RCV005864468 RCV004532327 RCV005864436 RCV005864437 RCV005864672 RCV005864679 RCV005864516 RCV005250109 RCV005250174
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs199688124	RCV005924358
Factor I deficiency	Likely pathogenic; Pathogenic	rs368555424, rs2126178088, rs2126214430, rs1425827135, rs199688124, rs2126224371, rs752767269, rs769721080, rs757053954, rs758049059, rs886043418, rs121964916, rs1360382612, rs752671716, rs368615806	RCV002504628 RCV001535876 RCV001535832 RCV005023273 RCV002074443 RCV005057831 RCV002279774 RCV005864634 RCV005025900 RCV002500970 RCV002494859 RCV000012907 RCV003388469 RCV002490923 RCV002507347

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs9998151, rs114013791	RCV005919868 RCV005890983
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs114013791	RCV005890986
Afibrinogenemia	Uncertain significance	rs760801046	RCV000767928
C3 glomerulonephritis	Uncertain significance	rs753060374, rs200095323, rs978550738, rs780858107, rs368054438	RCV005361923 RCV005864652 RCV005864666 RCV005864689 RCV005864698
Cervical cancer	Benign; Likely benign	rs114013791	RCV005890987
Cholangiocarcinoma	Benign	rs9998151, rs6821803	RCV005919870 RCV005917175
Chronic kidney disease	Benign; Likely benign	rs112534524	RCV001171354
Clear cell carcinoma of kidney	Benign; Likely benign	rs114013791	RCV005890989
Complement-mediated glomerular disease	Conflicting classifications of pathogenicity	rs770655669	RCV001849476
Familial cancer of breast	Likely benign; Benign	rs112492491, rs114013791	RCV005921226 RCV005890981
Familial pancreatic carcinoma	Benign; Likely benign	rs114013791	RCV005890990
Focal segmental glomerulosclerosis	Benign	rs74817407	RCV002294307
Gastric cancer	Benign; Likely benign	rs7671905, rs114013791	RCV005918376 RCV005890992
Hepatocellular carcinoma	Benign	rs7671905, rs6821803	RCV005918374 RCV005917174
Kidney disorder	Benign; Likely benign	rs181378677, rs115780371	RCV002294305 RCV002294308
Kidney failure	Conflicting classifications of pathogenicity	rs141853578	RCV005625261
Lung cancer	Benign; Likely benign	rs114013791	RCV005890997
Lymphoma	Benign; Likely benign	rs114013791	RCV005890993
Macular degeneration, age-related, 13, susceptibility to	Conflicting classifications of pathogenicity	rs371432629, rs141853578	RCV000201930 RCV000056257
Malignant lymphoma, large B-cell, diffuse	Benign	rs7671905	RCV005918375
Malignant tumor of esophagus	Benign; Likely benign	rs114013791	RCV005890984
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs114013791	RCV005890985
Ovarian cancer	Benign; Likely benign	rs114013791	RCV005890988
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs114013791	RCV005890994
Peroxisome biogenesis disorder 4A (Zellweger)	Conflicting classifications of pathogenicity	rs144082872	RCV005629861
Sarcoma	Benign; Likely benign	rs114013791	RCV005890991
Thrombotic microangiopathy	Conflicting classifications of pathogenicity	rs41278047	RCV001849181
Thymoma	Benign; Conflicting classifications of pathogenicity; Likely benign	rs9998151, rs756201106, rs114013791	RCV005919869 RCV005924108 RCV005890996
Uterine carcinosarcoma	Benign; Likely benign	rs114013791	RCV005890995
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs114013791	RCV005890998

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)