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Cfi complement component factor i [ Mus musculus (house mouse) ]

Gene ID: 12630, updated on 21-Apr-2024

Summary

Official Symbol
Cfiprovided by MGI
Official Full Name
complement component factor iprovided by MGI
Primary source
MGI:MGI:105937
See related
Ensembl:ENSMUSG00000058952 AllianceGenome:MGI:105937
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
This gene encodes a serine protease that plays an important role in the classical and alternative complement pathways where it cleaves C4b and C3b components of C3 and C5 convertases. The encoded preproprotein undergoes proteolytic processing to generate an active, disulfide-linked heterodimeric enzyme comprised of heavy and light chains. [provided by RefSeq, Jul 2016]
Expression
Biased expression in liver E18 (RPKM 164.6), liver adult (RPKM 83.6) and 3 other tissues See more
Orthologs
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Genomic context

Location:
3 G3; 3 59.21 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (129630432..129668978)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (129836727..129875332)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 Neighboring gene predicted gene, 36130 Neighboring gene retinal pigment epithelium derived rhodopsin homolog Neighboring gene STARR-positive B cell enhancer ABC_E7942 Neighboring gene GAR1 ribonucleoprotein Neighboring gene predicted gene, 36180 Neighboring gene phospholipase A2, group XIIA Neighboring gene predicted gene, 46825 Neighboring gene caspase 6

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in complement activation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within innate immune response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
complement factor I
Names
C3B/C4B inactivator
NP_001316481.1
NP_001396602.1
NP_001396603.1
NP_001396608.1
NP_001396609.1
NP_001396610.1
NP_001396611.1
NP_001396612.1
NP_001396613.1
NP_031712.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001329552.2NP_001316481.1  complement factor I isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC111097
    Conserved Domains (7) summary
    smart00020
    Location:359588
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:46111
    FIMAC; factor I membrane attack complex
    smart00202
    Location:117220
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:232261
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:360591
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00530
    Location:122219
    SRCR; Scavenger receptor cysteine-rich domain
    cl00104
    Location:264298
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
  2. NM_001409673.1NP_001396602.1  complement factor I isoform 3 preproprotein

    Status: VALIDATED

    Source sequence(s)
    AC111097
  3. NM_001409674.1NP_001396603.1  complement factor I isoform 4 preproprotein

    Status: VALIDATED

    Source sequence(s)
    AC111097
  4. NM_001409679.1NP_001396608.1  complement factor I isoform 5 preproprotein

    Status: VALIDATED

    Source sequence(s)
    AC111097
  5. NM_001409680.1NP_001396609.1  complement factor I isoform 6 precursor

    Status: VALIDATED

    Source sequence(s)
    AC111097
  6. NM_001409681.1NP_001396610.1  complement factor I isoform 7 preproprotein

    Status: VALIDATED

    Source sequence(s)
    AC111097
  7. NM_001409682.1NP_001396611.1  complement factor I isoform 8 preproprotein

    Status: VALIDATED

    Source sequence(s)
    AC111097
  8. NM_001409683.1NP_001396612.1  complement factor I isoform 9 preproprotein

    Status: VALIDATED

    Source sequence(s)
    AC111097
  9. NM_001409684.1NP_001396613.1  complement factor I isoform 10 precursor

    Status: VALIDATED

    Source sequence(s)
    AC111097
  10. NM_007686.4NP_031712.2  complement factor I isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_031712.2

    Status: VALIDATED

    Source sequence(s)
    AC111097
    Consensus CDS
    CCDS17835.1
    UniProtKB/Swiss-Prot
    B2RWX8, Q61129, Q9WU07
    Related
    ENSMUSP00000077074.6, ENSMUST00000077918.7
    Conserved Domains (7) summary
    smart00020
    Location:360589
    Tryp_SPc; Trypsin-like serine protease
    smart00057
    Location:46111
    FIMAC; factor I membrane attack complex
    smart00202
    Location:117220
    SR; Scavenger receptor Cys-rich
    cd00112
    Location:232261
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    cd00190
    Location:361592
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
    pfam00530
    Location:122219
    SRCR; Scavenger receptor cysteine-rich domain
    cl00104
    Location:264298
    LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    129630432..129668978
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)