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    CFI complement factor I [ Homo sapiens (human) ]

    Gene ID: 3426, updated on 4-Feb-2018
    Official Symbol
    CFIprovided by HGNC
    Official Full Name
    complement factor Iprovided by HGNC
    Primary source
    HGNC:HGNC:5394
    See related
    Ensembl:ENSG00000205403 MIM:217030; Vega:OTTHUMG00000161109
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FI; IF; KAF; AHUS3; ARMD13; C3BINA; C3b-INA
    Summary
    This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complement components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in liver (RPKM 171.8), kidney (RPKM 63.6) and 9 other tissues See more
    Orthologs
    Location:
    4q25
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (109731221..109802225, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (110661848..110723381, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene mitochondrial calcium uniporter dominant negative beta subunit Neighboring gene caspase 6 Neighboring gene phospholipase A2 group XIIA Neighboring gene GAR1 ribonucleoprotein Neighboring gene retinal pigment epithelium-derived rhodopsin homolog

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Afibrinogenemia
    MedGen: C0001733 OMIM: 610984 GeneReviews: Not available
    Compare labs
    Age-related macular degeneration 13
    MedGen: C3809523 OMIM: 615439 GeneReviews: Not available
    Compare labs
    Atypical hemolytic-uremic syndrome 3 Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    NHGRI GWA Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    NHGRI GWA Catalog
    Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
    NHGRI GWA Catalog
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
      Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement and coagulation cascades, conserved biosystem (from KEGG)
      Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
    • Complement cascade, organism-specific biosystem (from REACTOME)
      Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
      Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
    • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
      Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    • Staphylococcus aureus infection, conserved biosystem (from KEGG)
      Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    scavenger receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    complement factor I
    Names
    C3B/C4B inactivator
    C3b-inactivator
    Konglutinogen-activating factor
    complement component I
    complement control protein factor I
    complement factor I heavy chain
    light chain of factor I
    NP_000195.2
    NP_001304986.1
    XP_005263033.1
    XP_006714272.1
    XP_006714273.1
    XP_011530222.1
    XP_016863653.1
    XP_016863654.1
    XP_016863655.1

    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.

    Genomic

    1. NG_007569.1 RefSeqGene

      Range
      4807..66294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_48

    mRNA and Protein(s)

    1. NM_000204.4NP_000195.2  complement factor I isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_000195.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform 2.
      Source sequence(s)
      AK290625, BM955734, DC298508, DC392360, J02770, N63668
      Consensus CDS
      CCDS34049.1
      UniProtKB/Swiss-Prot
      P05156
      UniProtKB/TrEMBL
      A8K3L0
      Related
      ENSP00000378130.2, ENST00000394634.6
      Conserved Domains (7) summary
      smart00020
      Location:339569
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:340572
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain
    2. NM_001318057.1NP_001304986.1  complement factor I isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) contains an alternate in-frame exon compared to variant 2. The encoded isoform (1) is longer than isoform 2.
      Source sequence(s)
      AK299232, BC020718, BM955734, DC298508, N63668
      Consensus CDS
      CCDS82946.1
      UniProtKB/TrEMBL
      B4DRF2, Q8WW88
      Related
      ENSP00000378131.3, OTTHUMP00000221928, ENST00000394635.7, OTTHUMT00000364697
      Conserved Domains (7) summary
      smart00020
      Location:347577
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:348580
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain
    3. NM_001331035.1NP_001317964.1  complement factor I isoform 3 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region compared to variant 2. The encoded isoform (3) lacks a portion of the heavy chain compared to isoform 2.
      Source sequence(s)
      AK290625, BM955734, BX453590, DC298508, DC392360, J02770, N63668
      Consensus CDS
      CCDS82945.1
      UniProtKB/Swiss-Prot
      P05156
      UniProtKB/TrEMBL
      A8K3L0, G3XAM2
      Conserved Domains (7) summary
      smart00020
      Location:332562
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:333565
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      109731221..109802225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008165.1XP_016863654.1  complement factor I isoform X5

    2. XM_017008164.1XP_016863653.1  complement factor I isoform X4

    3. XM_011531920.1XP_011530222.1  complement factor I isoform X3

      Conserved Domains (8) summary
      smart00020
      Location:347519
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:348519
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain
      pfam13900
      Location:524555
      GVQW; Putative domain of unknown function
    4. XM_017008166.1XP_016863655.1  complement factor I isoform X6

    5. XM_005262976.1XP_005263033.1  complement factor I isoform X2

      Related
      ENSP00000427438.1, OTTHUMP00000219728, ENST00000512148.5, OTTHUMT00000363814
      Conserved Domains (7) summary
      smart00020
      Location:332562
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:333565
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain
    6. XM_006714209.1XP_006714272.1  complement factor I isoform X1

      Conserved Domains (7) summary
      smart00020
      Location:346576
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:347579
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain
    7. XM_006714210.3XP_006714273.1  complement factor I isoform X7

      Conserved Domains (7) summary
      smart00020
      Location:347520
      Tryp_SPc; Trypsin-like serine protease
      smart00057
      Location:43108
      FIMAC; factor I membrane attack complex
      smart00202
      Location:114215
      SR; Scavenger receptor Cys-rich
      cd00112
      Location:224256
      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:348520
      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 ...
      pfam00057
      Location:257293
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
      pfam00530
      Location:119214
      SRCR; Scavenger receptor cysteine-rich domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      110638387..110699842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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