Property Summary

NCBI Gene PubMed Count 70
PubMed Score 99.77
PubTator Score 149.33

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q03591 A8K465 Q3B774 Q9UJ17 FHR-1
Symbols CFHL
FHR1
HFL1
HFL2
CFHL1
H36-1
H36-2
CFHL1P
CFHR1P

Gene

PDB

3ZD2   4MUC  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (58)

PMID Text
27196323 Next-generation sequencing of the CFH region identified putatively functional variants (missense, splice site and indel) on the four common haplotypes. We found no expression of any of the five CFH-related genes in the retina or RPE/Choroid/Sclera, in contrast to the liver, which is the main source of the circulating proteins. [CFHR1]
26163426 These results suggest that the combination of quantitative and qualitative variations in the complement proteins encoded by CFH, CFHR3 and CFHR1 genes is key for the association of these haplotypes with disease.
25979655 Studies indicate that complement factor H-related proteins (FHR1-5) may enhance complement activation, with important implications for the role of these proteins in disease.
25659429 Data indicate that the autoantigenic epitope of complement factor H (CFH) and its homologous site in CFH-related protein-1(CFHR1) are structurally different
25205734 Genetic variants in CFH, CFHR3, and CFHR1 affect complement activation and thereby predispose patients to develop IgA nephropathy.
24557084 we have assessed the relationship between GA and previously identified AMD-associated variants of genes (CFH, CFB, C3, FHR1, FRH3, and ARMS2/HTRA).
24333077 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24280833 Factor H and the alternative spliced product FHL-1 are expressed in RPE cells.
24088957 Prompt use of immunosuppressive agents and plasma exchanges are useful for improving outcomes in pediatric patients with anti-complement factor H-associated HUS.
23938460 These results provide evidence for a role of CFH and FHL-1 in cutaneous squamous cell carcinoma progression and identify them as progression markers and potential therapeutic targets.
23880784 The CFHR1/complement factor H hybrid gene fusion protein contains the first three short consensus repeats of CFHR1
23873044 Results show non-coding CFH SNP (rs6677604) and the common deletion CNP147 were strongly correlated both with each other and with plasma CFH and CFHR1 concentrations in patients with age-related macular degeneration.
23728178 Identification and characterization of a unique CFHR1 mutation provides insights into the biology and pathogenic mechanisms underlying C3 glomerulopathy.
23243267 Homozygous deletion in CFHR1 is strongly associated with occurrence of CFH antibodies in pediatric patients with atypical hemolytic uremic syndrome.
23071278 Lpd is a novel surface-exposed virulence factor of P. aeruginosa that binds Factor H, FHL-1, CFHR1, and plasminogen, and the Lpd-attached regulators are relevant for innate immune escape and most likely contribute to tissue invasion.
22894814 An average of 15.2% of factor H-autoantibody positive individuals with rheumatic diseases or hemolytic uremic syndrome had homozygous deficiency of CFHR1.
22848687 genetic variations in CFH and its related genes may contribute to hypertension risk in Chinese Hans
22786770 we show that native factor H, factor H-like protein 1, and factor H-related protein 1 (CFHR1) bind to PTX3
22626820 A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
22558131 A significant association with deletion of CFHR1-4 was identified in patients who presented with bilateral geographic atrophy.
22247456 Analysis of the CFHR1 genotypes provide sufficient information to delineate the individual risk of developing age-related macular degeneration.
22136554 Reduced expression of the CFHR1 allele has been associated with higher risk to atypical Haemolytic Uraemic Syndrome in Spanish patients.
21856016 In this matched subset of Age-Related Eye Disease Study (AREDS) subjects, after adjusting for 2 known risk variants in CFH, CNP147 deletion statistically associates with diminished risk for AMD.
21850184 Combined deletion of CFHR3 and CFHR1 is associated with a decreased risk of developing age-related macular degeneration.
21677662 Data show that 698 CNPs loci overlap with known disease-associated or pharmacogenetic-related genes such as CFHR3, CFHR1, GSTTI and UGT2B17.
21677636 Anti-factor H autoantibodies in patients with autoimmune form of atypical hemolytic uremic syndrome crossreact with CFHR1.
21637784 A change in gene dosage of the encoded proteins CFHR3 and CFHR1 might account for the increased systemic lupus erythematosus. risk
20865640 Studies indicated that atypical HUS was linked with a complement alternative pathway dysregulation due to genetic defects but also to development of autoantibodies to factor H (FH).
20855886 Binding of the human complement regulators CFHR1 and factor H by streptococcal collagen-like protein 1 (Scl1) via their conserved C termini allows control of the complement cascade at multiple levels.
20843825 deficiency of CFHR3 and CFHR1 results in a loss of complement control but enhances local regulation by factor H; alludes to critical balance between CFHR3, CFHR1 and factor H and emphasize role of complement regulation in age-related macular degeneration
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20581873 Data from haplotype analysis demonstrates the relationship between the CFH rs10737680 association and the CFHR1-3Delta association in age-related macular degeneration.
20581873 Observational study of gene-disease association. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
20059470 Observational study of gene-disease association. (HuGE Navigator)
20008295 CFH and CFHR1, when bound on the surface of C. albicans, enhance antimicrobial activity of human neutrophils.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19861685 Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
19745068 characterization of a novel CFHR1 polymorphism, resulting from a gene conversion event between CFH and CFHR1, which strongly associates with atypical hemolytic uremic syndrome
19553609 Deletion of CFHR3 and CFHR1 protected against the development of AMD at least in part because the deletion tagged a protective haplotype and did not occur on the risk haplotype.
19553609 Observational study of gene-disease association. (HuGE Navigator)
19531976 Results describe a correlation between the development of complement factor H autoantibodies and the deficiency of the CFH-related proteins, CFHR1 and CFHR3, in atypical hemolytic uremic syndrome.
19435718 The number of CFHR1 alleles was quantified in patients with atypical haemolytic uraemic syndrome(aHUS) by multiplex ligation dependant probe amplification (MLPA). Frequency of the deleted allele was significantly higher in aHUS patients than in controls.
19344414 Observational study of gene-disease association. (HuGE Navigator)
19308255 Borrelia recurrentis HcpA binds human complement regulators, Factor H, CFHR-1, and simultaneously, the host protease plasminogen.
18824548 CFH/CFHL1 binding site within borrelial BbCRASP-2 and identified single amino acid residues potentially involved in the interaction with both complement regulators
18084039 Deletion of CFHR1 and CFHR3 may account for a small portion of the protection from age-related macular degeneration associated with particular haplotypes in complement factor H.
18084039 Observational study of gene-disease association. (HuGE Navigator)
18039838 The binding of factor H and factor H-like protein 1 (FHL-1) from human sera to Aspergillus fumigatus conidia was shown by adsorption assays and immunostaining.
18006700 either lacked the CFHR1/CFHR3 completely (n = 14) or showed extremely low CFHR1/CFHR3 plasma levels (n = 2) are positive for factor H (CFH) autoantibodies
17538892 we have identified factor H-related protein 1 (FHR-1) as a novel protein that binds to Borrelia burgdorferi via CRASP-3, -4, and -5.
17438673 Observational study of gene-disease association. (HuGE Navigator)
17367211 Deletion of two closely related genes, complement factor H-related 1 (CFHR1) and complement factor H-related 3 (CFHR3), increases the risk of atypical hemolytic uremic syndrome.
16998489 A common haplotype was associated with decreased risk of AMD. This haplotype carried a deletion of CFHR1 and CFHR3, and the proteins encoded by these genes were absent in serum of homozygotes.
16998489 Observational study of gene-disease association. (HuGE Navigator)
16239506 the primary function of FHL-1 binding by T. denticola might be to facilitate adherence to FHL-1 present on anchorage-dependent cells and in the extracellular matrix
15557185 Human complement regulatory factor H-like protein 1 (FHL-1) binds to Streptococcal pyogenes M18 surface protein Emm18.
10781834 This paper (PMID 10781834) was the first to describe the detailed structure of the human FHR1 gene.

AA Sequence

MWLLVSVILISRISSVGGEATFCDFPKINHGILYDEEKYKPFSQVPTGEVFYYSCEYNFVSPSKSFWTRI      1 - 70
TCTEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKC     71 - 140
RSTDTSCVNPPTVQNAHILSRQMSKYPSGERVRYECRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGP    141 - 210
PPPIDNGDITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIAL    211 - 280
RWTAKQKLYLRTGESAEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR                        281 - 330
//

Text Mined References (71)

PMID Year Title
27196323 2016 Sequence and Expression of Complement Factor H Gene Cluster Variants and Their Roles in Age-Related Macular Degeneration Risk.
26163426 2015 Complement factor H, FHR-3 and FHR-1 variants associate in an extended haplotype conferring increased risk of atypical hemolytic uremic syndrome.
25979655 2015 Factor H-related proteins determine complement-activating surfaces.
25659429 2015 The major autoantibody epitope on factor H in atypical hemolytic uremic syndrome is structurally different from its homologous site in factor H-related protein 1, supporting a novel model for induction of autoimmunity in this disease.
25205734 2015 Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.
24557084 2014 Growth of geographic atrophy on fundus autofluorescence and polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in age-related macular degeneration.
24333077 2014 Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479.
24280833 2014 Human complement factor H and factor H-like protein 1 are expressed in human retinal pigment epithelial cells.
24088957 2014 Prompt plasma exchanges and immunosuppressive treatment improves the outcomes of anti-factor H autoantibody-associated hemolytic uremic syndrome in children.
23938460 2014 Complement factor H: a biomarker for progression of cutaneous squamous cell carcinoma.
23880784 2013 A novel hybrid CFHR1/CFH gene causes atypical hemolytic uremic syndrome.
23873044 2013 Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
23728178 2013 C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation.
23487775 2013 Dimerization of complement factor H-related proteins modulates complement activation in vivo.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23243267 2013 Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
23071278 2012 Dihydrolipoamide dehydrogenase of Pseudomonas aeruginosa is a surface-exposed immune evasion protein that binds three members of the factor H family and plasminogen.
23028341 2012 Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.
22894814 2012 Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome.
22848687 2012 Associations of CFH polymorphisms and CFHR1-CFHR3 deletion with blood pressure and hypertension in Chinese population.
22786770 2012 Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3.
22626820 2012 A hybrid CFHR3-1 gene causes familial C3 glomerulopathy.
22558131 2012 Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.
22516433 2012 Proteomic analysis of microvesicles from plasma of healthy donors reveals high individual variability.
22247456 2012 Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration.
22136554 2012 Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (aHUS) are differently expressed in Tunisian and in Caucasian populations.
21856016 2011 Association assessment of copy number polymorphism and risk of age-related macular degeneration.
21850184 2011 Copy number variation in the complement factor H-related genes and age-related macular degeneration.
21677662 2011 Copy number polymorphisms in new HapMap III and Singapore populations.
21677636 2011 Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome.
21637784 2011 Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.
21399633 2011 Genome-wide association study identifies susceptibility loci for IgA nephropathy.
20865640 2010 Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS.
20855886 2010 Binding of the human complement regulators CFHR1 and factor H by streptococcal collagen-like protein 1 (Scl1) via their conserved C termini allows control of the complement cascade at multiple levels.
20843825 2010 An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20581873 2010 Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
20059470 2010 Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
20008295 2010 Factor H and factor H-related protein 1 bind to human neutrophils via complement receptor 3, mediate attachment to Candida albicans, and enhance neutrophil antimicrobial activity.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19861685 2010 Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
19745068 2009 Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
19553609 2009 Contribution of copy number variation in the regulation of complement activation locus to development of age-related macular degeneration.
19531976 2009 Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.
19435718 2009 The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.
19344414 2009 Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.
19308255 2009 Borrelia recurrentis employs a novel multifunctional surface protein with anti-complement, anti-opsonic and invasive potential to escape innate immunity.
18824548 2008 Deciphering the ligand-binding sites in the Borrelia burgdorferi complement regulator-acquiring surface protein 2 required for interactions with the human immune regulators factor H and factor H-like protein 1.
18084039 2008 Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration.
18039838 2008 The opportunistic human pathogenic fungus Aspergillus fumigatus evades the host complement system.
18006700 2008 Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1/CFHR3 deficiency.
17538892 2007 Binding of human factor H-related protein 1 to serum-resistant Borrelia burgdorferi is mediated by borrelial complement regulator-acquiring surface proteins.
17438673 2006 Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications.
17367211 2007 Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
16998489 2006 A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16239506 2005 Demonstration of factor H-like protein 1 binding to Treponema denticola, a pathogen associated with periodontal disease in humans.
15557185 2004 Interaction between complement regulators and Streptococcus pyogenes: binding of C4b-binding protein and factor H/factor H-like protein 1 to M18 strains involves two different cell surface molecules.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10781834 Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes.
10408366 1999 The factor H protein family.
10380701 1999 A radiation hybrid map of complement factor H and factor H-related genes.
8663389 1996 Plasma lipopolysaccharide-binding protein is found associated with a particle containing apolipoprotein A-I, phospholipid, and factor H-related proteins.
8172644 1994 Complement factor H and related proteins: an expanding family of complement-regulatory proteins?
1826708 1991 Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule.
1825108 1991 Two major serum components antigenically related to complement factor H are different glycosylation forms of a single protein with no factor H-like complement regulatory functions.
1711047 1991 Molecular cloning of a human serum protein structurally related to complement factor H.