Tbio CFI Complement factor I

Protein Summary

Description

Responsible for cleaving the alpha-chains of C4b and C3b in the presence of the cofactors C4-binding protein and factor H respectively. 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]

Uniprot Accession IDs

• P05156
• O60442

Gene Name

• CFI

Ensembl ID

• ENST00000394634
• ENSP00000378130
• ENSG00000205403

Symbol

• IF
• FI
• IF
• KAF
• AHUS3
• ARMD13
• C3BINA
• C3b-INA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
protein domain	1
kinase perturbation	0.71
disease	0.66
tissue sample	0.66
biological term	0.65

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Target Illumination GWAS Analytics (TIGA)

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 326.28   (req: < 5)

Gene RIFs: 72   (req: <= 3)

Antibodies: 567   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 326.28   (req: >= 5)

Gene RIFs: 72   (req: > 3)

Antibodies: 567   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (3)

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GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
age-related macular degeneration	EFO_0001365	1	1	0	3.6	48.2
atrophic macular degeneration	EFO_1001492	1	1	0	3.6	48.2
wet macular degeneration	EFO_0004683	1	1	0	3.6	48.2

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
age-related macular degeneration	EFO_0001365	0	3.6	48.2
atrophic macular degeneration	EFO_1001492	0	3.6	48.2
wet macular degeneration	EFO_0004683	0	3.6	48.2

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Orthologs (10)

1 – 5 of 10

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	complement factor I	VGNC:579	471271
Mouse	complement component factor i	MGI:105937	12630
Rat	complement factor I	RGD:620429	79126
Dog	complement factor I	VGNC:39176	478515
Cow	complement factor I	VGNC:27252	513197

Species	Name	OMA	EggNOG	Inparanoid
Chimp	complement factor I
Mouse	complement component factor i
Rat	complement factor I
Dog	complement factor I
Cow	complement factor I

Protein Structure (2 Structures, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P05156-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (11)

Reactome (4)

KEGG (2)

WikiPathways (5)

Complement cascade (R-HSA-166658)

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1 – 4 of 4

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Complement cascade	133 targets	R-HSA-166658
Reactome	Immune System	2246 targets	R-HSA-168256
Reactome	Innate Immune System	1188 targets	R-HSA-168249
Reactome	Regulation of Complement cascade	122 targets	R-HSA-977606

Name	Explore in Pharos	Explore in Source
Complement cascade	133 targets	R-HSA-166658
Immune System	2246 targets	R-HSA-168256
Innate Immune System	1188 targets	R-HSA-168249
Regulation of Complement cascade	122 targets	R-HSA-977606

Gene Ontology Terms (10)

Functions (3)

Components (4)

Processes (3)

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10

1 – 3 of 3

GO Term	Evidence	Assigned by
serine-type endopeptidase activity	Traceable Author Statement (TAS)	Reactome
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
scavenger receptor activity	Inferred from Electronic Annotation (IEA)	InterPro

Protein-Protein Interactions (92)

Explore Interacting Targets

1 – 10 of 92

• See Interactions on String-DB

ECM1

Tbio

Novelty: 0.00518679

p_int: 0.913315227

p_ni: 0.086678974

p_wrong: 0.000005799

Score: 0.51

Data Source: BioPlex,STRINGDB

CFH

Tbio

Novelty: 0.00065547

Score: 0.999

Data Source: Reactome,STRINGDB

C3

Tbio

Novelty: 0.00019115

Score: 0.997

Data Source: Reactome,STRINGDB

CFB

Tchem

Novelty: 0.00102672

Score: 0.983

Data Source: STRINGDB

CD46

Tbio

Novelty: 0.00098341

Score: 0.977

Data Source: Reactome,STRINGDB

C4A

Tbio

Novelty: 0.00062793

Score: 0.969

Data Source: Reactome,STRINGDB

C4B

Tbio

Novelty: 0.00068357

Score: 0.969

Data Source: Reactome,STRINGDB

CFHR3

Tbio

Novelty: 0.01779009

Score: 0.969

Data Source: STRINGDB

C2

Tbio

Novelty: 0.00974862

Score: 0.959

Data Source: STRINGDB

C4BPA

Tbio

Novelty: 0.00319944

Score: 0.955

Data Source: Reactome,STRINGDB

Publication Statistics

PubMed Score  326.28

PubMed score by year

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PubTator Score  553.55

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Age-related macular degeneration
Calcium
Cleavage on pair of basic residues
Complement pathway
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Glycoprotein

GWAS Trait Find Similar Targets

age-related macular degeneration
atrophic macular degeneration
wet macular degeneration

MGI Phenotype Find Similar Targets

hematopoietic system phenotype
homeostasis/metabolism phenotype
renal/urinary system phenotype