Cfi MGI Mouse Gene Detail - MGI:105937 - complement component factor i

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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
  • 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
  • Genetic Map
    Chromosome 3, 59.21 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1752 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
    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
glomerulonephritis

DOID:2921
ICD10CM:N08
MESH:D005921
NCI:C26784
UMLS_CUI:C0017658

 View 1 model
Mouse Models

Human Disease Modeled: glomerulonephritis

Allelic Composition Genetic Background Reference Phenotypes
Cfiem1Jiwe/Cfiem1Jiwe
involves: C57BL/6J J:308307 View
IDs
age related macular degeneration 13
IDs
atypical hemolytic-uremic syndrome
IDs
complement factor I deficiency
IDs
Kuhnt-Junius degeneration

DOID:10873
ICD10CM:H35.32
ICD9CM_2006:362.52
ICD9CM:362.52
UMLS_CUI:C0271084
IDs
macular degeneration
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
    16 phenotype references
Phenotype Overview

Phenotype Overview
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.
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
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  • All GO Annotations
  • GO References
    8
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

Expression Overview
GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.
  • Blue cells = expressed in wild-type.
    Gray triangles = other expression annotations only
    (e.g. absence of expression or data from mutants).
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
    4
  • Comparison Matrix
    • 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
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000005384 complement factor I
    • EC
    • InterPro Domains
      IPR048722 Complement factor I, FIMAC N-terminal domain
      IPR048719 Complement factor I, KAZAL domain
      IPR003884 Factor I / membrane attack complex
      IPR002350 Kazal domain
      IPR036058 Kazal domain superfamily
      IPR036055 LDL receptor-like superfamily
      IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site
      IPR002172 Low-density lipoprotein (LDL) receptor class A repeat
      IPR001314 Peptidase S1A, chymotrypsin family
      IPR009003 Peptidase S1, PA clan
      IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold
      IPR001254 Serine proteases, trypsin domain
      IPR018114 Serine proteases, trypsin family, histidine active site
      IPR033116 Serine proteases, trypsin family, serine active site
      IPR001190 SRCR domain
      IPR036772 SRCR-like domain superfamily
    • GlyGen
      Q61129 8 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)
    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 45
      Developmental Gene Expression 4
      Diseases 2
      Gene Ontology 8
      Phenotypes 16
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    TSS for Cfi:
    (View these features in JBrowse)
    Transcription Start Site Location Distance from Gene 5'-end
    Tssr31654 Chr3:129630282-129630321 (+) -130 bp
    Tssr31655 Chr3:129630378-129630396 (+) -45 bp
    Tssr31656 Chr3:129630423-129630453 (+) 6 bp
    Tssr31657 Chr3:129646538-129646542 (+) 16,108 bp
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support. last database update
    10/07/2025
    MGI 6.24 The Jackson Laboratory
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