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

    Gene ID: 12630, updated on 27-Nov-2024

    Summary

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    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
    human all
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    Genomic context

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    See Cfi in Genome Data Viewer
    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Generation and Characterization of Mouse Models of C3 Glomerulonephritis With CFI D288G and P467S Mutations. Song H, et al. Front Physiol, 2021. PMID 34149444, Free PMC Article
    2. Cloning and characterization of the non-catalytic heavy chain of mouse complement factor I gene: structure comparison with the human homologue. Yun YS, et al. Biochem Mol Biol Int, 1999 Mar. PMID 10204086
    3. Rat complement factor I: molecular cloning, sequencing and expression in tissues and isolated cells. Schlaf G, et al. Immunology, 1999 Nov. PMID 10583609, Free PMC Article
    4. Molecular cloning of the complement regulatory factor I isotypes from the common carp (Cyprinus carpio). Nakao M, et al. Immunogenetics, 2003 Feb. PMID 12618913
    5. Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice. Rose KL, et al. J Clin Invest, 2008 Feb. PMID 18202746, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in complement activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    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

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    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_001329552.2 → NP_001316481.1  complement factor I isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC111097
      Conserved Domains (7) summary
      smart00020
      Location:359 → 588
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:46 → 111
      FIMAC; factor I membrane attack complex
      smart00202
      Location:117 → 220
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:232 → 261
      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:360 → 591
      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:122 → 219
      SRCR; Scavenger receptor cysteine-rich domain
      cl00104
      Location:264 → 298
      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_001409673.1 → NP_001396602.1  complement factor I isoform 3 preproprotein

      Status: VALIDATED

      Source sequence(s)
      AC111097

    3. NM_001409674.1 → NP_001396603.1  complement factor I isoform 4 preproprotein

      Status: VALIDATED

      Source sequence(s)
      AC111097

    4. NM_001409679.1 → NP_001396608.1  complement factor I isoform 5 preproprotein

      Status: VALIDATED

      Source sequence(s)
      AC111097

    5. NM_001409680.1 → NP_001396609.1  complement factor I isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC111097

    6. NM_001409681.1 → NP_001396610.1  complement factor I isoform 7 preproprotein

      Status: VALIDATED

      Source sequence(s)
      AC111097

    7. NM_001409682.1 → NP_001396611.1  complement factor I isoform 8 preproprotein

      Status: VALIDATED

      Source sequence(s)
      AC111097

    8. NM_001409683.1 → NP_001396612.1  complement factor I isoform 9 preproprotein

      Status: VALIDATED

      Source sequence(s)
      AC111097

    9. NM_001409684.1 → NP_001396613.1  complement factor I isoform 10 precursor

      Status: VALIDATED

      Source sequence(s)
      AC111097

    10. NM_007686.4 → NP_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:360 → 589
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:46 → 111
      FIMAC; factor I membrane attack complex
      smart00202
      Location:117 → 220
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:232 → 261
      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:361 → 592
      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:122 → 219
      SRCR; Scavenger receptor cysteine-rich domain
      cl00104
      Location:264 → 298
      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)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q61129.3 GenPept UniProtKB/Swiss-Prot:Q61129

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