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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CFI Gene

protein-coding GIFtS: 65
GCID: GC04M110661

complement factor I

(Previous name: I factor (complement) )
(Previous symbol: IF)

Explore 67 diseases affiliated with
CFI via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Complement Factor I¹ ²		C3b-Inactivator¹
IF¹ ² ³		Complement Component I²
FI¹ ² ⁵		Complement Control Protein Factor I²
C3b-INA¹ ²		Complement Factor I Heavy Chain²
KAF¹ ²		Konglutinogen-Activating Factor²
C3B/C4B Inactivator² ³		Light Chain Of Factor I²
AHUS3² ⁵		EC 3.4.21.45³
I Factor (Complement)¹		EC 3.4.21⁸
C3BINA²

External Ids:	HGNC: 5394¹	Entrez Gene: 3426²	Ensembl: ENSG00000205403⁷	OMIM: 217030⁵	UniProtKB: P05156³

Export aliases for CFI gene to outside databases

Previous GC identifers: GC04M110881 GC04M106394

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CFI:

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 uraemic syndrome, a disease characterized by acute renal

failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immmune deposits is

another condition associated with mutation of this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156

Function: Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein

and factor H respectively

Gene Wiki entry for CFI (Complement factor I)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CFI gene promoter:
CREB p53 ATF-2 deltaCREB STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CFI promoter sequence

Search SABiosciences Chromatin IP Primers for CFI

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CFI

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q25 Ensembl cytogenetic band: 4q25 HGNC cytogenetic band: 4q25

CFI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFI gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M110661: view genomic region (about GC identifiers)

Start:	110,661,848 bp from pter	End:	110,723,335 bp from pter
Size:	61,488 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156 (See protein sequence)

Recommended Name: Complement factor I precursor

Size: 583 amino acids; 65750 Da

Subunit: Heterodimer of a light and heavy chains; disulfide-linked. The fully processed and mature protein circulates

as a zymogen, and is allosterically activated by substrate-induced remodeling of the active site

Subcellular location: Secreted, extracellular space

Sequence caution: Sequence=CAA68416.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

1 PDB 3D structure from and Proteopedia for CFI:

2XRC (3D)

Secondary accessions: O60442

Explore the universe of human proteins at neXtProt for CFI: NX_P05156

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P05156

4/5 DME Specific Peptides for CFI (P05156) (see all 5)

GDSGGPL

CKGDSGG

PGVYTKV

SGGPLVC

CFI Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000195.2

ENSEMBL proteins:

ENSP00000378131 ENSP00000427438 ENSP00000422009 ENSP00000378130

Reactome Protein details: P05156
Human Recombinant Protein Products for CFI:

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	Novus Biologicals CFI Protein Novus Biologicals CFI Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CFI

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IEA	--
GO:0016020	membrane	IEA	--

CFI for ontologies About GeneDecksing

CFI Antibody Products:

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	Uscn ELISAs and CLIAs for CFI

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CFI for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR001314 Peptidase_S1A

IPR001190 Srcr_rcpt

IPR023415 LDLR_class-A_CS

IPR003884 FacI_MAC

IPR001254 Peptidase_S1

Graphical View of Domain Structure for InterPro Entry P05156

ProtoNet protein and cluster: P05156

5/6 Blocks protein families (see all 6):

IPB001190 Speract/scavenger receptor

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

IPB002172 Low density lipoprotein-receptor

IPB003884 Factor I membrane attack complex

UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 1 Kazal-like domain

Similarity: Contains 2 LDL-receptor class A domains

Similarity: Contains 1 peptidase S1 domain

Similarity: Contains 1 SRCR domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CFAI_HUMAN, P05156

Function: Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein

and factor H respectively

Catalytic activity: Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage

Enzyme Numbers (IUBMB): EC 3.4.21² EC 3.4.21.45¹

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IEA	--
GO:0005044	scavenger receptor activity	IEA	--
GO:0046872	metal ion binding	IEA	--

CFI for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CFI:

Increased circadian period len

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cfi):

homeostasis/metabolism

renal/urinary system

CFI for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cfi^tm1Mcp for CFI

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CFI

miRNA Products:		OriGene 3'-UTR Clone: CFI Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CFI
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CFI (see all 7) OriGene shRNA RFP: CFI OriGene siRNA: CFI
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CFI
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CFI (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CFI OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CFI
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFI

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune response_Alternative complement pathway

	Immune response Alternative complement pathway	1.00			Immune response_Lectin induced complement pathway	0.56
	Immune response_Alternative complement pathway	1.00			Immune response Lectin Induced complement pathway	0.56

Immune response_Classical complement pathway

Immune response_Classical complement pathway

1.00

Immune response Classic complement pathway

0.98

Immune System

Immune System

1.00

Innate Immune System

0.46

Staphylococcus aureus infection

Staphylococcus aureus infection

1.00

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for CFI

	Immune response Alternative complement pathway
	Immune response Classic complement pathway
	Immune response Lectin Induced complement pathway

3 GeneGo (Thomson Reuters) Pathways for CFI

	Immune response Alternative complement pathway
	Immune response Classical complement pathway
	Immune response Lectin induced complement pathway

4 Reactome Pathways for CFI

	Regulation of Complement cascade
	Complement cascade
	Immune System
	Innate Immune System

2 Kegg Pathways (Kegg details for CFI):

	Complement and coagulation cascades
	Staphylococcus aureus infection

CFI for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CFI

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/6 Interacting proteins for CFI (P05156³ ENSP00000378130⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 6)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C3	P01024³, ENSP00000245907⁴	I2D: score=3 STRING: ENSP00000245907
CFH	P08603³, ENSP00000356399⁴	I2D: score=2 STRING: ENSP00000356399
C4BPA	ENSP00000356037⁴	STRING: ENSP00000356037
C4BPB	ENSP00000243611⁴	STRING: ENSP00000243611
CD46	ENSP00000313875⁴	STRING: ENSP00000313875

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006958	complement activation, classical pathway	IEA	--
GO:0030449	regulation of complement activation	TAS	--
GO:0045087	innate immune response	TAS	--

CFI for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CFI for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CFI
10/24 Novoseek chemical compound relationships for CFI gene (see all 24) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
serine	46.2	37	14967308 (2), 17597211 (2), 18346635 (2), 11532284 (1) (see all 28)
aebsf	35.3	2	15835912 (1)
heparin	34.8	7	9626699 (1), 16125850 (1), 8487783 (1), 1693366 (1) (see all 5)
fibrinogen	31.6	15	9663761 (2), 8753170 (1), 15320815 (1), 20100856 (1) (see all 11)
kininogen	15.1	2	11092686 (1)
suramin	12.1	3	15835912 (1), 15210795 (1)
glucose	2.4	1	17130986 (1)
cholesterol	1.35	1	8892015 (1)
lipid	0.959	1	8892015 (1)
calcium	0.912	2	11174570 (1), 8187303 (1)

Search CenterWatch for drugs/clinical trials and news about CFI / CFAI

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CFI gene:

NM_000204.3

Unigene Cluster for CFI:

Complement factor I

Hs.312485 [show with all ESTs]

Unigene Representative Sequence: NM_000204

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000504853(uc003hzq.3) ENST00000394635 ENST00000512148 ENST00000515512

ENST00000510800 ENST00000394634(uc003hzr.4 uc011cft.2)

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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: CFI (NM_000204)
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Additional cDNA sequence:

AK290625.1 AK299232.1 BC005275.1 BC020718.1 J02770.1 Y00318.1

11 DOTS entries:

DT.100668706 DT.416052 DT.121269696 DT.100764553 DT.121269727 DT.75151592 DT.121269787 DT.86840813

DT.95167718 DT.97820352 DT.75138531

24/436 AceView cDNA sequences (see all 436):

AW891114 BX378996 AW589944 BM787437 AU137617 BX109425 AU141634 CR621106

AY359024 CR610634 BM675240 AA649828 AI218487 AA235373 AI366754 CR591422

AA894657 CB163750 BM803084 CA951162 T70841 BX379666 BM790222 CA950903

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CFI expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGGAAGGCC

About this image

CFI expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 5 LifeMap Cells

Name

Category

Human umbilical vein endothelial cells (HUVEC) (Primary Cell)

Endothelium

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Fetal cardiomyocytes (20 weeks) (Primary Cell)

Heart, Myocardium

Trophoblast-like cells (Generation of tropho...)

Beating cell clusters (Spontaneous differen...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CFI Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CFI

SOURCE GeneReport for Unigene cluster: Hs.312485

UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156

Tissue specificity: Plasma

SABiosciences Custom PCR Arrays for CFI

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CFI

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFI

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CFI gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CFI¹	complement factor I	62.38(n) 53.57(a)		428773 XM_426329.3 XP_426329.2
lizard (Anolis carolinensis)	Reptilia	CFI⁶	--	50(a)	1 ↔ 1	5(144387440-144403489)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1143²	X.laevis factor I mRNA for Factor I C3b/C4b inactivator	77(n)		X59958.1
zebrafish (Danio rerio)	Actinopterygii	57048286²	--	78.06(n)		57048286
fruit fly (Drosophila melanogaster)	Insecta	Tequila⁶	Tequila	4(a)	1 ↔ 1	3L(9067745-9085231)
worm (Caenorhabditis elegans)	Secernentea	try-2⁶	TRYpsin-like Protease family member (try-2)	28(a)	1 ↔ 1	IV(8212567-8213709)

ENSEMBL Gene Tree for CFI (if available)
TreeFam Gene Tree for CFI (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CFI gene

CORIN²

18/39 SIMAP similar genes for CFI using alignment to 5 protein entries: CFAI_HUMAN (see all proteins) (see all similar genes):

DKFZp586F0824 TMPRSS11D CMA1 F12 KLK9 PROC

PROC1 CELA2A CELA3A ELA2A KLK13 CTRL

DKFZp779M0222 PRSS55 F9 CELA2B ELA2B KLK8

CFI for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121964913^1,2	C	other	110667387(-)	`GGGGAC/TGAGAA`	2	R *	stg¹		0	--	--	--	--
rs121964917^1,2	C	other	110670750(-)	`GAAGAC/TGGATA`	2	R W	mis¹		1		NA	4540
rs79124099^1,2	C	--	110661351(+)	`CTGGGG/TTGGCA`	1	--	ds500¹		2		WA	120
rs190482587^1,2		--	110661356(+)	`GTGGCA/GTGATT`	1	--	ds500¹		0	--	--	--	--
rs13139018^1,2	C	--	110661521(+)	`AAGAAA/GGAAAG`	1	--	ds500¹		11		NA WA CSA EA	372
rs112397745^1,2	C	--	110661559(+)	`GGAAGA/CAGGGA`	1	--	ds500¹		0	--	--	--	--
rs146353496^1,2		--	110661675(+)	`TATAGA/GTGGAA`	1	--	ds500¹		0	--	--	--	--
rs180881103^1,2		--	110661782(+)	`TAGTTA/GTAACT`	1	--	ds500¹		0	--	--	--	--
rs28361433^1,2	C,F	--	110661835(+)	`TTTTCT/CGATAA`	1	--	ds500¹		3		WA CSA	122
rs113267478^1,2	C	--	110661853(+)	`TTGTAA/C/TGCTTC`	2	--	ut3¹		1		CSA	1

HapMap Linkage Disequilibrium report for CFI (110661848 - 110723335 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CFI
1 Indel: 68785
Human Gene Mutation Database (HGMD): CFI

Locus Specific Mutation Databases (LSDB): CFI

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CFI for disorders           About GeneDecksing

OMIM gene information: 217030
OMIM disorders: 610984  612923
UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156

Defects in CFI are a cause of susceptibility to hemolytic uremic syndrome atypical type 3 (AHUS3)

[MIM:612923]. An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by

microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and

diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death

rates and frequent progression to end-stage renal disease. Note=Susceptibility to the development of atypical

hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the

complement cascade system. Other genes may play a role in modifying the phenotype

Defects in CFI are the cause of complement factor I deficiency (CFI deficiency) [MIM:610984]. CFI deficiency

is an autosomal recessive condition associated with a propensity to pyogenic infections

20/67 diseases for CFI (see all 67): About MalaCards

complement factor i deficiency hemolytic-uremic syndrome hemolytic anemia autosomal recessive disease

glomerulonephritis atypical hemolytic-uremic syndrome thrombocytopenia immune-complex glomerulonephritis

obsessive-compulsive disorder thrombotic thrombocytopenic purpura anemia age related macular degeneration

prader-willi syndrome afibrinogenemia dental fluorosis short stature

aphthous stomatitis aseptic meningitis bladder transitional cell carcinoma congenital afibrinogenemia

4 diseases from the University of Copenhagen DISEASES database for CFI:

hemolytic-uremic syndrome Dental fluorosis Congenital afibrinogenemia Age related macular degeneration

10/44 Novoseek disease relationships for CFI gene (see all 44) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
afibrinogenemia	90.1	46	18374984 (5), 9476132 (5), 10352206 (4), 16138437 (4) (see all 23)
uremic syndrome	82.5	22	17597211 (2), 19459807 (2), 19877009 (2), 17599974 (1) (see all 16)
hemolysis	25.3	2	18658028 (1), 1492973 (1)
glomerulonephritis	24.1	3	16138437 (2), 10352206 (1)
septicemia	19.8	2	9476132 (1), 9745775 (1)
renal failure chronic	18.1	3	19373492 (1), 16762990 (1), 17261436 (1)
meningitis	17.3	7	11709004 (2), 9476132 (2), 18374984 (1), 16138437 (1) (see all 5)
lupus erythematosus systemic	15.5	1	11422911 (1)
bulimia	11.5	2	12374641 (1), 17027929 (1)
otitis	9.51	1	9476132 (1)

GeneTests: CFI

Atypical Hemolytic-Uremic Syndrome

Human Genome Epidemiology (HuGE) Navigator: CFI (17 documents)

Export disorders for CFI gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CFI gene, integrated from 9 sources (see all 366):
(articles sorted by number of sources associating them with CFI)

Utopia: connect your pdf to the dynamic
world of online information

Human complement factor I: analysis of cDNA-derived primary structure and assignment of its gene to chromosome 4. (PubMed id 2956252)^{1, 2, 3} Goldberger G.... Kwiatkowski D.J. (1987)
Cloning and characterization of the promoter for the human complement factor I (C3b/C4b inactivator) gene. (PubMed id 9479036)^{1, 2, 9} Minta J.O....Goldberger G. (1998)
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome. (PubMed id 17106690)^{1, 2, 9} Geelen J.... van den Heuvel L. (2007)
Beta-sheet secondary structure of an LDL receptor domain from complement factor I by consensus structure predictions and spectroscopy. (PubMed id 7672128)^{1, 2, 9} Ullman C.G....Perkins S.J. (1995)
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PubMed id 20513133)^{1, 2, 9} Maga T.K....Smith R.J. (2010)
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. (PubMed id 17018561)^{1, 2, 9} Servais A.... Fakhouri F. (2007)
Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PubMed id 16621965)^{1, 2, 9} Caprioli J....Remuzzi G. (2006)
Structural basis for complement factor I control and its disease-associated sequence polymorphisms. (PubMed id 21768352)^{1, 2} Roversi P....Lea S.M. (2011)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)^{1, 2} Bunkenborg J.... Wisniewski J.R. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3426	HGNC: 5394	AceView: IFandCASP6andPLA2G12A	Ensembl:ENSG00000205403	euGenes: HUgn3426
ECgene: CFI	Kegg: 3426	H-InvDB: CFI

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CFI	Pharmacogenomics, SNPs, Pathways
CFIbase	http://bioinf.uta.fi/CFIbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFI

Intellectual Property for CFI gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CFI gene:
Search GeneIP for patents involving CFI

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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