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    CFH complement factor H [ Homo sapiens (human) ]

    Gene ID: 3075, updated on 26-Jul-2015
    Official Symbol
    CFHprovided by HGNC
    Official Full Name
    complement factor Hprovided by HGNC
    Primary source
    HGNC:HGNC:4883
    See related
    Ensembl:ENSG00000000971; HPRD:00601; MIM:134370; Vega:OTTHUMG00000035607
    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
    FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3
    Summary
    This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
    Orthologs
    Location:
    1q32
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (196651878..196747504)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196621008..196716634)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371674 Neighboring gene potassium channel, sodium activated subfamily T, member 2 Neighboring gene microRNA 4735 Neighboring gene complement factor H-related 3 Neighboring gene complement factor H-related 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    NHGRI GWA Catalog
    Complement factor H polymorphism in age-related macular degeneration.
    NHGRI GWA Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    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 and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    NHGRI GWA Catalog
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    NHGRI GWA Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    NHGRI GWA Catalog
    Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
    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 association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    NHGRI GWA Catalog
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    NHGRI GWA Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    NHGRI GWA Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Inhibition of DAF or use of factor H depleted sera significantly increases C3 deposition on recombinant HIV-1 gp120 coated CD4 cells PubMed
    env Direct interaction of complement factor H with the C1 domain (amino acids 105-119) of HIV-1 gp120 is found in sera from AIDS patients PubMed
    Envelope transmembrane glycoprotein gp41 env Four areas in HIV-1 gp41 (aa 561-585, 587-605, 615-635, 651-675) interact with human factor H PubMed
    env Preincubation of HIV-1 gp41 with either factor H or properdin, and of HIV-1 gp120 with C3b or C4b affect the interaction between HIV-1 gp41 and gp120 PubMed

    Go to the HIV-1, Human Interaction Database

    • 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

    Clone Names

    • MGC88246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    complement activation TAS
    Traceable Author Statement
    more info
    PubMed 
    complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    complement factor H
    Names
    H factor 1 (complement)
    H factor 2 (complement)
    adrenomedullin binding protein
    age-related maculopathy susceptibility 1
    beta-1-H-globulin
    beta-1H
    complement factor H, isoform b
    factor H
    factor H-like 1
    NP_000177.2
    NP_001014975.1

    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_007259.1 RefSeqGene

      Range
      4868..100494
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_47

    mRNA and Protein(s)

    1. NM_000186.3NP_000177.2  complement factor H isoform a precursor

      See identical proteins and their annotated locations for NP_000177.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL049744, BC142699, BM842566, BP324193, Y00716
      Consensus CDS
      CCDS1385.1
      UniProtKB/TrEMBL
      A0A024R962
      UniProtKB/Swiss-Prot
      P08603
      Related
      ENSP00000356399, OTTHUMP00000033598, ENST00000367429, OTTHUMT00000086412
      Conserved Domains (3) summary
      cd00033
      Location:146206
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:10262
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:2176
      Sushi; Sushi domain (SCR repeat)
    2. NM_001014975.2NP_001014975.1  complement factor H isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) utilizes an alternate terminal exon which results in an early stop codon. The resulting protein (isoform b, also known as the "factor H-like 1" or "FHL-1" isoform) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AL049744, BC073982, BM842566
      Consensus CDS
      CCDS53452.1
      UniProtKB/TrEMBL
      A0A0D9SG88
      Related
      ENSP00000487250, OTTHUMP00000279307, ENST00000630130, OTTHUMT00000484313
      Conserved Domains (2) summary
      cd00033
      Location:146206
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      PHA02927
      Location:10262
      PHA02927; secreted complement-binding protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      196651878..196747504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      198042727..198138292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)