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Cfi Gene Detail
Summary
  • Symbol
    Cfi
  • Name
    complement component factor i
  • Feature Type
    protein coding gene
  • IDs
    MGI:105937
    NCBI Gene: 12630
  • Gene Overview
    MyGene.info: CFI
Location & Maps
more
  • Sequence Map
    Chr3:129835884-129875332 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      39449 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 59.21 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    CFI, complement factor I
  • Vertebrate Orthologs
    9
  • Human Ortholog
    CFI, complement factor I
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AHUS3, ARMD13, C3b-INA, C3BINA, FI, IF, KAF
  • Links
    NCBI Gene ID: 3426
    neXtProt AC: NX_P05156

  • Chr Location
    4q25; chr4:109731221-109802225 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human CFI associations

Human Disease Mouse Models
       Complement Factor I Deficiency; CFID   OMIM: 610984
Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3; AHUS3   OMIM: 612923
Macular Degeneration, Age-Related, 13; ARMD13   OMIM: 615439
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 2 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    5
  • Genomic Mutations
    2 involving Cfi
  • Incidental Mutations
Homozygous null mice display uncontrolled alternative pathway activation as shown by reduced complement C3, factor B, and factor H levels, but do not develop C3 deposition along the glomerular basement membrane or membranoproliferative glomerulonephritistype II. Plasma C3 circulates as C3b.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000054726 VEGA Gene Model | MGI Sequence Detail 39449 C57BL/6J ±  kb
transcript OTTMUST00000135653 VEGA | MGI Sequence Detail 2079 Not Applicable  
polypeptide OTTMUSP00000071761 VEGA | MGI Sequence Detail 603 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    533 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 36
    cDNA 35
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-33616
References
more
  • Summaries
    All 32
    Developmental Gene Expression 3
    Gene Ontology 4
    Phenotypes 10
  • Earliest
    J:31869 Minta JO, et al., cDNA cloning, sequencing and chromosomal assignment of the gene for mouse complement factor I (C3b/C4b inactivator): identification of a species specific divergent segment in factor I. Mol Immunol. 1996 Jan;33(1):101-12
  • Latest
    J:206648 Baudino L, et al., C3 opsonization regulates endocytic handling of apoptotic cells resulting in enhanced T-cell responses to cargo-derived antigens. Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1503-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory