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    CFH complement factor H [ Homo sapiens (human) ]

    Gene ID: 3075, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CFHprovided by HGNC
    Official Full Name
    complement factor Hprovided by HGNC
    Primary source
    HGNC:HGNC:4883
    See related
    Ensembl:ENSG00000000971 MIM:134370; AllianceGenome:HGNC:4883
    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]
    Expression
    Biased expression in liver (RPKM 390.3), gall bladder (RPKM 78.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFH in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196652043..196747504)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (195998386..196093925)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (196621173..196716634)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene potassium sodium-activated channel subfamily T member 2 Neighboring gene LINE-1 retrotransposable element ORF2 protein-like Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:196342862-196343398 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:196577905-196578421 Neighboring gene microRNA 4735 Neighboring gene MPRA-validated peak637 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2274 Neighboring gene MPRA-validated peak638 silencer Neighboring gene complement factor H related 3 Neighboring gene complement factor H related 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Meningococcal factor H binding protein fHbpd184 polymorphism influences clinical course of meningococcal meningitis. Piet JR, et al. PLoS One, 2012. PMID 23110143, Free PMC Article
    2. Critical role of the C-terminal domains of factor H in regulating complement activation at cell surfaces. Ferreira VP, et al. J Immunol, 2006 Nov 1. PMID 17056561
    3. Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms. BĂ­rĂł A, et al. Mol Diagn Ther, 2006. PMID 17022693
    4. Analysis of the Y402H variant of the complement factor H gene in age-related macular degeneration. Baird PN, et al. Invest Ophthalmol Vis Sci, 2006 Oct. PMID 17003406
    5. Association between variant Y402H in age-related macular degeneration (AMD) susceptibility gene CFH and treatment response of AMD: a meta-analysis. Chen H, et al. PLoS One, 2012. PMID 22905135, Free PMC Article

    See all (888) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Complement Factor H Loss in RPE Cells Causes Retinal Degeneration in a Human RPE-Porcine Retinal Explant Co-Culture Model.
      Title: Complement Factor H Loss in RPE Cells Causes Retinal Degeneration in a Human RPE-Porcine Retinal Explant Co-Culture Model.
    2. Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots.
      Title: Complement-Coagulation Cross-talk: Factor H-mediated regulation of the Complement Classical Pathway activation by fibrin clots.
    3. Protective role of complement factor H against the development of preeclampsia.
      Title: Protective role of complement factor H against the development of preeclampsia.
    4. Gliosis-dependent expression of complement factor H truncated variants attenuates retinal neurodegeneration following ischemic injury.
      Title: Gliosis-dependent expression of complement factor H truncated variants attenuates retinal neurodegeneration following ischemic injury.
    5. Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma.
      Title: Association of KDR (rs2071559, rs1870377), CFH (rs1061170, rs1410996) genes variants and serum levels with pituitary adenoma.
    6. Mesangial C3 Deposition, Complement-Associated Variant, and Disease Progression in IgA Nephropathy.
      Title: Mesangial C3 Deposition, Complement-Associated Variant, and Disease Progression in IgA Nephropathy.
    7. Complement factor H attenuates TNF-alpha-induced inflammation by upregulating EIF3C in rheumatoid arthritis.
      Title: Complement factor H attenuates TNF-α-induced inflammation by upregulating EIF3C in rheumatoid arthritis.
    8. Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study.
      Title: Identification of complement factor H variants that predispose to pre-eclampsia: A genetic and functional study.
    9. Reduced binding of apoE4 to complement factor H promotes amyloid-beta oligomerization and neuroinflammation.
      Title: Reduced binding of apoE4 to complement factor H promotes amyloid-β oligomerization and neuroinflammation.
    10. CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.
      Title: CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (711)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    EBI GWAS Catalog
    Complement factor H polymorphism in age-related macular degeneration.
    EBI GWAS Catalog
    Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
    EBI GWAS Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    EBI GWAS Catalog
    Genome-wide and gene-centric analyses of circulating myeloperoxidase levels in the charge and care consortia.
    EBI GWAS Catalog
    Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
    EBI GWAS Catalog
    Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
    EBI GWAS Catalog
    Genome-wide association study identifies susceptibility loci for IgA nephropathy.
    EBI GWAS Catalog
    Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
    EBI GWAS Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    EBI GWAS Catalog
    Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
    EBI GWAS Catalog
    Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
    EBI GWAS Catalog
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    EBI GWAS Catalog
    Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
    EBI GWAS Catalog
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

    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

    Potential readthrough

    Included gene: CFHR3

    Homology

    Clone Names

    • MGC88246

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in complement activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of complement activation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of complement activation, alternative pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of complement-dependent cytotoxicity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of serine-type endopeptidase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in symbiont cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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
    factor H
    factor H-like 1
    NP_000177.2
    NP_001014975.1

    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.

    Genomic

    1. NG_007259.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000186.4 → NP_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/Swiss-Prot
      A5PL14, P08603, P78435, Q14570, Q2TAZ5, Q38G77, Q5TFM3, Q8N708, Q9NU86
      Related
      ENSP00000356399.4, ENST00000367429.9
      Conserved Domains (4) summary
      cd00033
      Location:1109 → 1163
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:146 → 205
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:10 → 262
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:811 → 864
      Sushi; Sushi repeat (SCR repeat)

    2. NM_001014975.3 → NP_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, A0A8Q3WM71
      Related
      ENSP00000487250.1, ENST00000630130.2
      Conserved Domains (4) summary
      cd00033
      Location:85 → 142
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:146 → 205
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:10 → 262
      PHA02927; secreted complement-binding protein; Provisional
      pfam00084
      Location:325 → 384
      Sushi; Sushi repeat (SCR repeat)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      196652043..196747504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791754.1 Reference GRCh38.p14 PATCHES

      Range
      501706..597238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      195998386..196093925
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08603.4 GenPept UniProtKB/Swiss-Prot:P08603

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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