Tbio CFH Complement factor H

Protein Summary

Description

Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway. This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]

Uniprot Accession IDs

• P08603
• A5PL14
• P78435
• Q14570
• Q2TAZ5
• Q38G77
• Q5TFM3
• Q8N708
• Q9NU86

Gene Name

• CFH

Ensembl ID

• ENST00000367429
• ENSP00000356399
• ENSG00000000971

Symbol

• HF
• HF1
• HF2
• FH
• HF
• HF1
• HF2
• HUS
• FHL1
• AHUS1
• AMBP1
• ARMD4
• ARMS1
• CFHL3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	1
co-expressed gene	0.99
gene perturbation	0.96
disease	0.89
phenotype	0.82

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: 1613.64   (req: < 5)

Gene RIFs: 595   (req: <= 3)

Antibodies: 855   (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: 1613.64   (req: >= 5)

Gene RIFs: 595   (req: > 3)

Antibodies: 855   (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

Protein Data Bank (45)

1 – 5 of 45

PDB Structure Id	Ligand	Method	Resolution (Å)	M.W. (kDa)	Pub Year	Title

PDB Structure Id	M.W.	Resolution	Pub Year

Pathways (170)

Reactome (4)

KEGG (2)

WikiPathways (164)

Complement cascade (R-HSA-166658)

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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 (2)

Components (4)

Processes (4)

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10

1 – 2 of 2

GO Term	Evidence	Assigned by
heparan sulfate proteoglycan binding	Inferred from Direct Assay (IDA)	BHF-UCL
heparin binding	Inferred from Direct Assay (IDA)	BHF-UCL

Protein-Protein Interactions (109)

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1 – 10 of 109

• See Interactions on String-DB

CFHR3

Tbio

Novelty: 0.02712836

p_int: 0.99551977

p_ni: 4.07e-7

p_wrong: 0.004479823

Score: 0.966

Data Source: BioPlex,STRINGDB

KLHL18

Tdark

Novelty: 1.55555556

p_int: 0.979446207

p_ni: 0.020000177

p_wrong: 0.000553616

Score: 0.193

Data Source: BioPlex,STRINGDB

MUT

Tbio

Family: Enzyme

Novelty: 0.00172221

p_int: 0.968147111

p_ni: 0.031852889

Score: 0.623

Data Source: BioPlex,STRINGDB

CFI

Tbio

Novelty: 0.00194994

Score: 0.999

Data Source: Reactome,STRINGDB

C3

Tbio

Novelty: 0.00025052

Score: 0.999

Data Source: Reactome,STRINGDB

CFHR1

Tbio

Novelty: 0.00805757

Score: 0.971

Data Source: STRINGDB

CFHR2

Tbio

Novelty: 0.11928994

Score: 0.948

Data Source: STRINGDB

CFB

Tchem

Novelty: 0.00128742

Score: 0.946

Data Source: Reactome,STRINGDB

ARMS2

Tbio

Novelty: 0.00399337

Score: 0.922

Data Source: STRINGDB

CRP

Tbio

Novelty: 0.0000246

Score: 0.869

Data Source: STRINGDB

Publication Statistics

PubMed Score  1613.64

PubMed score by year

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PubTator Score  1744.96

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
Alternative splicing
Complement alternate pathway
Complete proteome
Direct protein sequencing
Disease mutation
Disulfide bond
Glycoprotein
Hemolytic uremic syndrome

GWAS Trait Find Similar Targets

age-related macular degeneration
atrophic macular degeneration
BMI-adjusted waist-hip ratio
c3d:C3 ratio
choroidal thickness measurement
chronic central serous retinopathy
complement C3 measurement
complement C4 measurement
disease progression measurement
IGA glomerulonephritis

MGI Phenotype Find Similar Targets

cardiovascular system phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
mortality/aging
nervous system phenotype
pigmentation phenotype
renal/urinary system phenotype
vision/eye phenotype