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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:129630432-129668978 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 59.21 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    523 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105937
 protein coding gene Chr3:129629533-129668981 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027875
 protein coding gene Chr3:132519618-132563450 (+)
A/J MGP_AJ_G0027833
 protein coding gene Chr3:127905466-127946444 (+)
AKR/J MGP_AKRJ_G0027798
 protein coding gene Chr3:131216920-131263770 (+)
BALB/cJ MGP_BALBcJ_G0027846
 protein coding gene Chr3:127746947-127789315 (+)
C3H/HeJ MGP_C3HHeJ_G0027575
 protein coding gene Chr3:131614560-131656340 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028290
 protein coding gene Chr3:137253298-137303540 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025628
 protein coding gene Chr3:123431292-123469717 (+)
CAST/EiJ MGP_CASTEiJ_G0027032
 protein coding gene Chr3:131290585-131333195 (+)
CBA/J MGP_CBAJ_G0027551
 protein coding gene Chr3:141865988-141916728 (+)
DBA/2J MGP_DBA2J_G0027692
 protein coding gene Chr3:127098373-127139187 (+)
FVB/NJ MGP_FVBNJ_G0027659
 protein coding gene Chr3:124684856-124727621 (+)
LP/J MGP_LPJ_G0027801
 protein coding gene Chr3:134023705-134070219 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027690
 protein coding gene Chr3:149825359-149874783 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028347
 protein coding gene Chr3:130891528-130937664 (+)
PWK/PhJ MGP_PWKPhJ_G0026756
 protein coding gene Chr3:126833445-126875533 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026581
 protein coding gene Chr3:128948397-128998285 (+)
WSB/EiJ MGP_WSBEiJ_G0027111
 protein coding gene Chr3:131606224-131649501 (+)



Homology
more
  • Human Ortholog
    CFI, complement factor I
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CFI, complement factor I
  • Synonyms
    AHUS3, ARMD13, C3b-INA, C3BINA, FI, IF, KAF
  • Links
    NCBI Gene ID: 3426
    neXtProt AC: NX_P05156
    UniProt: P05156

  • Chr Location
    4q25; chr4:109730982-109802150 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Cfi mouse models; 5 with human CFI associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 3 alleles in 3 genetic backgrounds
    3 phenotypes from multigenic genotypes
    15 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.
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
less
  • All GO Annotations
    9
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    756
  • Tissues
    47
  • cDNA Data
    35
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 12630 NCBI Gene Model | MGI Sequence Detail 38547 C57BL/6J ±  kb
    transcript NM_001409673 RefSeq | MGI Sequence Detail 2066 ZRU/MplStud  
    polypeptide Q61129 UniProt | EBI | MGI Sequence Detail 603 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 38
      cDNA 36
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-33616
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 6
      Phenotypes 15
    • 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:308307 Song H, et al., Generation and Characterization of Mouse Models of C3 Glomerulonephritis With CFI D288G and P467S Mutations. Front Physiol. 2021;12:649801
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory