Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



CFI Gene

protein-coding   GIFtS: 68
GCID: GC04M110661

Complement Factor I

(Previous name: I factor (complement))
(Previous symbol: IF)
  See CFI-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Complement Factor I1 2     C3BINA2
IF1 2 3     C3b-INA2
C3b-inactivator1 2     KAF2
Konglutinogen-Activating Factor1 2     Complement Component I2
C3B/C4B Inactivator2 3     Complement Control Protein Factor I2
AHUS32 5     Complement Factor I Heavy Chain2
ARMD132 5     Light Chain Of Factor I2
FI2 5     EC 3.4.21.453
I Factor (Complement)1     EC 3.4.218

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

TryGeneCards Plus

Entrez Gene summary for CFI Gene:
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)

GeneCards Summary for CFI Gene:
CFI (complement factor I) is a protein-coding gene. Diseases associated with CFI include acute hemorrhagic leukoencephalitis, and complement factor i deficiency. GO annotations related to this gene include scavenger receptor activity and serine-type endopeptidase activity. An important paralog of this gene is CORIN.

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) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFI gene promoter:
         CREB   p53   ATF-2   deltaCREB   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCFI promoter sequence
   Search Chromatin IP Primers for CFI

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
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

Explore proteomics data for CFI at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn70, Asn103, Asn177, Asn464, Asn494, Asn536
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CFI (P05156) (see all 5)
     GDSGGPL  CKGDSGG  PGVYTKV  SGGPLVC 


    See CFI Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000195.2  
    ENSEMBL proteins: 
     ENSP00000378131   ENSP00000427438   ENSP00000422009   ENSP00000378130  
    Reactome Protein details: P05156

    CFI Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CFI
    OriGene Protein Over-expression Lysate for CFI
    OriGene MassSpec for CFI
    OriGene Custom Protein Services for CFI
    GenScript Custom Purified and Recombinant Proteins Services for CFI
    Novus Biologicals CFI Protein
    Novus Biologicals CFI Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CFI

     
    Search eBioscience for Proteins for CFI 

    CFI Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for CFI (Complement Factor I)
    OriGene Antibodies for CFI
    OriGene Custom Antibody Services for CFI
    Novus Biologicals CFI Antibodies
    Abcam antibodies for CFI
    Cloud-Clone Corp. Antibodies for CFI
    ThermoFisher Antibodies for CFI
    LSBio Antibodies in human, mouse, rat for CFI

    CFI Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CFI
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CFI
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CFI
    Cloud-Clone Corp. CLIAs for CFI
    Search eBioscience for ELISAs for CFI 


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

    TryGeneCards Plus
    HGNC Gene Families:
    complement: Complement system

    Selected InterPro protein domains (see all 10):
     IPR002350 Kazal_dom
     IPR001314 Peptidase_S1A
     IPR001190 SRCR
     IPR023415 LDLR_class-A_CS
     IPR003884 FacI_MAC

    Graphical View of Domain Structure for InterPro Entry P05156

    ProtoNet protein and cluster: P05156

    Selected Blocks protein domains (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


    Find genes that share domains with CFI           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005044scavenger receptor activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with CFI           About GenesLikeMe


    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 

    Find genes that share phenotypes with CFI           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cfitm1Mcp for CFI

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CFI
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CFI

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CFI
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CFI

    miRNA
    Products:
        
    miRTarBase miRNAs that target CFI:
    hsa-mir-335-5p (MIRT018438), hsa-mir-26b-5p (MIRT029753), hsa-mir-181a-5p (MIRT025158)

    Block miRNA regulation of human, mouse, rat CFI using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CFI
    SwitchGear 3'UTR luciferase reporter plasmidCFI 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CFI
    Predesigned siRNA for gene silencing in human, mouse, rat CFI

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CFI

    Clone
    Products:
         
    OriGene clones in human, mouse for CFI (see all 6)
    OriGene ORF clones in mouse, rat for CFI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFI (NM_000204)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFI

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CFI
    Browse ESI BIO Cell Lines and PureStem Progenitors for CFI 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFI


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CFAI_HUMAN, P05156: Secreted, extracellular space
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    cytosol2
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0016020membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with CFI           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for CFI About    
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Immune response Alternative complement pathway0.56
    Immune response Classic complement pathway0.56
    Regulation of Complement cascade0.48
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    3Creation of C4 and C2 activators
    Complement cascade0.68
    4Staphylococcus aureus infection
    Staphylococcus aureus infection


    Find genes that share SuperPaths with CFI           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 GeneGo (Thomson Reuters) Pathways for CFI
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 Reactome Pathway for CFI
        Regulation of Complement cascade


    2 Kegg Pathways  (Kegg details for CFI):
        Complement and coagulation cascades
    Staphylococcus aureus infection

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CFI
    Interactions:

        GeneGlobe Interaction Network for CFI

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

    Selected Interacting proteins for CFI (P051563 ENSP000003781304) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C3P010243, ENSP000002459074I2D: score=3 STRING: ENSP00000245907
    CFHP086033, ENSP000003563994I2D: score=2 STRING: ENSP00000356399
    C4BPAENSP000003560374STRING: ENSP00000356037
    C4BPBENSP000002436114STRING: ENSP00000243611
    CD46ENSP000003138754STRING: ENSP00000313875
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006958complement activation, classical pathway IEA--
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--

    Find genes that share ontologies with CFI           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CFI (CFAI)

    Selected Novoseek inferred 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)



    Find genes that share compounds with CFI           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CFI using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate CFI
    SwitchGear 3'UTR luciferase reporter plasmidCFI 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CFI
    Predesigned siRNA for gene silencing in human, mouse, rat CFI
    Clone
    Products:
         
    OriGene clones in human, mouse for CFI (see all 6)
    OriGene ORF clones in mouse, rat for CFI
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFI (NM_000204)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFI
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFI
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CFI
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFI
      QuantiTect SYBR Green Assays in human, mouse, rat CFI
      QuantiFast Probe-based Assays in human, mouse, rat CFI

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 436):

    CR618232 BQ271785 AL708640 BX508790 AI095057 N91912 CR591422 BX444550 
    BX092618 AI218487 BP344737 CB163750 AA662174 BX378996 BE045840 AW590231 
    N56056 AA649828 BE764579 BM837197 BP344820 CA950903 AW589944 BU618923 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    CFI expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGAAGGCC
    CFI Expression
    About this image


    CFI expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Endothelium (Cardiovascular System)
             Human umbilical vein endothelial cells (HUVEC)
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
    CFI Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFI Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.312485

    UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156
    Tissue specificity: Plasma

        Custom PCR Arrays for CFI
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for CFI
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFI
    QuantiTect SYBR Green Assays in human, mouse, rat CFI
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for CFI gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cfi1 , 5 complement component factor i1, 5 76.86(n)1
    70.79(a)1
      3 (59.21 cM)5
    126301  NM_007686.21  NP_031712.21 
     1298367395 
    chicken
    (Gallus gallus)
    Aves CFI1 complement factor I 62.63(n)
    53.02(a)
      428773  NM_001272018.1  NP_001258947.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    49(a)
    47(a)
    many → 1
    many → 1
    5(144386843-144404450)
    5(144409891-144427831)
    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 Corin6
    CG16326
    (see all 3)
    --
    9(a)
    8(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2R(3433167-3448759)
    X(8146705-8166495)


    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

    TryGeneCards Plus
    Paralogs for CFI gene
    CORIN2  
    Selected 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

    Find genes that share paralogs with CFI           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for CFI (see all 1614)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617339011,2,,4
    C,FHemolytic uremic syndrome atypical 3 (AHUS3)4 --110462291(+) GAAAAT/GAATTC 2 /I /L mis12Minor allele frequency- G:0.01NS NA 4616
    rs1820789211,2,,4
    CHemolytic uremic syndrome atypical 3 (AHUS3)4 --110475820(+) TTCCCA/C/TTGTAA 3 R G W mis10--------
    rs756123001,2,,4
    C,FHemolytic uremic syndrome atypical 3 (AHUS3)4 --110477153(+) GCACAT/CGTAGA 2 /H /R mis12Minor allele frequency- C:0.00WA NA 4666
    VAR_0636664
    Macular degeneration, age-related, 13 (ARMD13)4--see VAR_0636662 G R mis40--------
    VAR_0636654
    Hemolytic uremic syndrome atypical 3 (AHUS3)4--see VAR_0636652 P L mis40--------
    VAR_0303444
    Hemolytic uremic syndrome atypical 3 (AHUS3)4--see VAR_0303442 D V mis40--------
    VAR_0636724
    Hemolytic uremic syndrome atypical 3 (AHUS3)4--see VAR_0636722 K T mis40--------
    VAR_0636714
    Hemolytic uremic syndrome atypical 3 (AHUS3)4--see VAR_0636712 D N mis40--------
    VAR_0349074
    Complement factor I deficiency (CFI deficiency)4--see VAR_0349072 G D mis40--------
    VAR_0303434
    Hemolytic uremic syndrome atypical 3 (AHUS3)4--see VAR_0303432 I T mis40--------

    HapMap Linkage Disequilibrium report for CFI (110661848 - 110723335 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CFI:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1651639CNV Deletion17803354
    nsv4463CNV Loss18451855
    esv26742CNV Gain19812545

    Human Gene Mutation Database (HGMD): CFI
    Locus Specific Mutation Databases (LSDB): CFI

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CFI
    DNA2.0 Custom Variant and Variant Library Synthesis for CFI

    (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

    TryGeneCards Plus
    OMIM gene information: 217030   
    OMIM disorders: 610984  612923  615439  
    UniProtKB/Swiss-Prot: CFAI_HUMAN, P05156
  • Hemolytic uremic syndrome atypical 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=Disease susceptibility is associated with variations affecting the gene represented in this entry.
    Other genes may play a role in modifying the phenotype
  • Complement factor I deficiency (CFI deficiency) [MIM:610984]: Autosomal recessive condition associated
    with a propensity to pyogenic infections. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 15 diseases for CFI:    
    About MalaCards
    acute hemorrhagic leukoencephalitis    complement factor i deficiency    macular degeneration, age-related, 13    cfi-related atypical hemolytic-uremic syndrome
    hemolytic uremic syndrome, atypical 3    aseptic meningitis    glomerulonephritis    congenital afibrinogenemia
    afibrinogenemia    psychotic disorder    aphthous stomatitis    hemolytic-uremic syndrome
    autosomal recessive disease    atypical hemolytic-uremic syndrome    thrombocytopenia

    3 diseases from the University of Copenhagen DISEASES database for CFI:
    Congenital afibrinogenemia     hemolytic-uremic syndrome     Acute hemorrhagic leukoencephalitis

    Find genes that share disorders with CFI           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: CFI
    Genetic Association Database (GAD): CFI
    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

    TryGeneCards Plus

    PubMed articles for CFI gene, integrated from 10 sources (see all 379):
    (articles sorted by number of sources associating them with CFI)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. (PubMed id 20513133)1, 2, 4, 9 Maga T.K.... Smith R.J.H. (Hum. Mutat. 2010)
    2. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. (PubMed id 16621965)1, 2, 4, 9 Caprioli J.... Remuzzi G. (Blood 2006)
    3. 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. (J. Biol. Chem. 1987)
    4. 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. (Gene 1998)
    5. Molecular basis of complement factor I (CFI) polymorphism: one of two polymorphic suballeles responsible for CFI A is Japanese-specific. (PubMed id 18825487)1, 4, 9 Yuasa I....Henke J. (J. Hum. Genet. 2008)
    6. 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. (Pediatr. Nephrol. 2007)
    7. 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. (FEBS Lett. 1995)
    8. 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. (J. Med. Genet. 2007)
    9. Structural basis for complement factor I control and its disease- associated sequence polymorphisms. (PubMed id 21768352)1, 2 Roversi P.... Lea S.M. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    10. A hypervariable STR polymorphism in the complement factor I (CFI) gene: Asian-specific alleles. (PubMed id 19693526)1, 4 Yuasa I....Henke J. (Int. J. Legal Med. 2011)

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

    TryGeneCards Plus
     ANDOR
    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

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

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for CFI Pharmacogenomics, SNPs, Pathways
    CFIbasehttp://bioinf.uta.fi/CFIbase/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CFI[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Antibodies for CFI (Complement Factor I)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for CFI   OriGene RNAi products in human, mouse, rat for CFI  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for CFI  
     OriGene MassSpec something-or-other for CFI   OriGene clones in human, mouse for CFI  
     OriGene qSTAR qPCR primer pairs in human, mouse for CFI   OriGene Purified Protein for CFI  
     OriGene ORF clones in mouse, rat for CFI   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for CFI   OriGene Custom Protein Services for CFI  

     
     
     Block miRNA regulation of human, mouse, rat CFI using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CFI
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CFI Predesigned siRNA for gene silencing in human, mouse, rat CFI
     QuantiFast Probe-based Assays in human, mouse, rat CFI QuantiTect SYBR Green Assays in human, mouse, rat CFI
     Custom PCR Arrays for CFI Search Chromatin IP Primers for CFI
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CFI  GeneGlobe Interaction Network for CFI
     Regulatory tfbs in CFI promoter
     GenScript Custom Purified and Recombinant Proteins Services for CFI GenScript cDNA clones with any tag delivered in your preferred vector for CFI
     GenScript Custom Assay Services for CFI GenScript Custom overexpressing Cell Line Services for CFI
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for CFI (CFAI)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     CFI antibodies
     CFI proteins
     CFI lysates
     Antibodies for CFI
     See all of Abcam's Antibodies, Kits and Proteins for CFI
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for CFI
     Antibodies for CFI
     ELISAs for CFI
     CLIAs for CFI



     Browse ESI BIO Cell Lines and PureStem Progenitors for CFI
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFI
     SwitchGear 3'UTR luciferase reporter plasmids for CFI
     SwitchGear Promoter luciferase reporter plasmids for CFI
     ThermoFisher Antibodies for CFI
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFI
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CFI
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CFI
     LSBio Antibodies in human, mouse, rat for CFI
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for CFI
      Search eBioscience for proteins for CFI
      Search eBioscience for elisas for CFI
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      CFI gene at Home site.
    Version: 3.12.224 13 Oct 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4