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CFH complement factor H [ Homo sapiens (human) ]

Gene ID: 3075, updated on 17-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (196652043..196747504)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (195998386..196093925)
105.20220307 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
  • 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. Low level of complement factor H increases the risk of cancer-related death in patients with small-cell lung cancer. Xiang M, et al. Postgrad Med J, 2022 Dec 1. PMID 37063027
  2. Genetic Variability of Complement Factor H Has Ethnicity-Specific Associations With Choroidal Thickness. Fenner BJ, et al. Invest Ophthalmol Vis Sci, 2023 Feb 1. PMID 36749597, Free PMC Article
  3. Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria. Prata PH, et al. Blood, 2023 Apr 13. PMID 36626252
  4. An Evaluation of the Complement-Regulating Activities of Human Complement Factor H (FH) Variants Associated With Age-Related Macular Degeneration. Biggs RM, et al. Invest Ophthalmol Vis Sci, 2022 Nov 1. PMID 36445700, Free PMC Article
  5. Complement factor H variants are associated with microangiopathy lesions in IgA nephropathy. Hou W, et al. Int Immunopharmacol, 2022 Nov. PMID 36113314

See all (879) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Protective role of complement factor H against the development of preeclampsia.
    Title: Protective role of complement factor H against the development of preeclampsia.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Low level of complement factor H increases the risk of cancer-related death in patients with small-cell lung cancer.
    Title: Low level of complement factor H increases the risk of cancer-related death in patients with small-cell lung cancer.
  10. Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria.
    Title: Rare germline complement factor H variants in patients with paroxysmal nocturnal hemoglobinuria.
Submit: New GeneRIF Correction See all GeneRIFs (709)

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_2023_10

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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