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GENE AND PROTEIN SUMMARY

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Gene name

CFI

Description

complement factor I

Protein class

Enzymes, Mapped to UniProt SWISS-PROT, Peptidases, Plasma proteins, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

Entrez gene 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 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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
0 with predicted TM region
4 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Plasma membrane, Cytoplasm, Centrosome

Additional location(s)

Vesicles 

Staining summary

Localized to the nucleus, cytoplasm, plasma membrane and centrosomes.

Reliability (APE)

Low

Antibodies in assay

HPA001143, CAB016777, HPA024061
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Expression mainly in plasma.

Tissue specificity

Expressed in 8 out of 82 cell types

Reliability (APE)

Low

Antibodies in assay

HPA001143, CAB016777, HPA024061
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 35% of the cancers

Antibodies in assay

HPA001143, CAB016777, HPA024061
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA001143

CAB016777

HPA024061

HPA001143

CAB016777

HPA024061

A-431 Skin Not detected
ModerateNegativeStrong
A-549 Lung Low
CACO-2 Colon Low
HEK 293 Embryonal kidney Low
HeLa Cervix Low
Hep-G2 Liver High
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Low
U-2 OS Bone Low
WeakNegativeWeak
U-251 MG Brain Low
ModerateNegativeStrong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA001143 pAb
CAB016777 mAb
HPA024061 pAb