CFI

GENERAL INFORMATION

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Gene name

CFI

Gene description

Complement factor I

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted secreted proteins

Predicted localization

Secreted

Number of transcripts

5
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (liver)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Expression mainly in plasma.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 3 antibodies.
HPA001143 , HPA024061 , CAB016777
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

CFI (HGNC Symbol)

Synonyms

C3b-INA, FI, IF, KAF

Description

Complement factor I (HGNC Symbol)

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]

Chromosome

4

Cytoband

q25

Chromosome location (bp)

109740694 - 109802179

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000205403 (version 78.38)

Entrez gene

3426

UniProt

P05156 (UniProt - Evidence at protein level)

neXtProt

NX_P05156

Antibodypedia

CFI antibodies


PROTEIN BROWSER

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ENST00000394634
 
ENST00000394635
 
ENST00000510800
 
ENST00000512148
 
ENST00000618244
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CFI-001 ENSP00000427438
ENST00000512148
G3XAM2
Show all »
Show » Show » 576 65.1 Yes 0
CFI-004 ENSP00000422009
ENST00000510800
D6R9Z8
Show all »
Show » Show » 161 18.3 Yes 0
CFI-006 ENSP00000378131
ENST00000394635
E7ETH0
Show all »
Show » Show » 591 66.6 Yes 0
CFI-201 ENSP00000378130
ENST00000394634
P05156
Show all »
Show » Show » 583 65.7 Yes 0
CFI-202 ENSP00000483416
ENST00000618244
D6R9Z8
Show all »
Show » Show » 378 42.5 Yes 0