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Aliases for CFHR1 Gene

Aliases for CFHR1 Gene

  • Complement Factor H Related 1 2 3
  • Complement Factor H-Related 1 Pseudogene 2 3
  • Complement Factor H-Related 1 2 5
  • H Factor (Complement)-Like 1 2 3
  • H Factor (Complement)-Like 2 2 3
  • H Factor-Like Protein 1 3 4
  • H-Factor-Like 1 3 4
  • CFHL1P 3 4
  • CFHR1P 3 4
  • CFHL1 3 4
  • FHR-1 3 4
  • HFL1 3 4
  • HFL2 3 4
  • CFHL 3 4
  • FHR1 3 4
  • H36 3 4
  • H36-1 3
  • H36-2 3

External Ids for CFHR1 Gene

Previous HGNC Symbols for CFHR1 Gene

  • HFL1
  • CFHL1
  • CFHR1P
  • HFL2
  • CFHL1P

Previous GeneCards Identifiers for CFHR1 Gene

  • GC01P195056

Summaries for CFHR1 Gene

Entrez Gene Summary for CFHR1 Gene

  • This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]

GeneCards Summary for CFHR1 Gene

CFHR1 (Complement Factor H Related 1) is a Protein Coding gene. Diseases associated with CFHR1 include Hemolytic Uremic Syndrome, Atypical 1 and Macular Degeneration, Age-Related, 1. An important paralog of this gene is ENSG00000276911.

UniProtKB/Swiss-Prot for CFHR1 Gene

  • Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.

Gene Wiki entry for CFHR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFHR1 Gene

Genomics for CFHR1 Gene

Regulatory Elements for CFHR1 Gene

Enhancers for CFHR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CFHR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CFHR1 Gene

196,819,731 bp from pter
196,832,189 bp from pter
12,459 bases
Plus strand

Genomic View for CFHR1 Gene

Genes around CFHR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFHR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFHR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFHR1 Gene

Proteins for CFHR1 Gene

  • Protein details for CFHR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Complement factor H-related protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K465
    • Q3B774
    • Q9UJ17

    Protein attributes for CFHR1 Gene

    330 amino acids
    Molecular mass:
    37651 Da
    Quaternary structure:
    • Head-to-tail homodimer and heterodimer with CFHR2 or CFHR5.

    Three dimensional structures from OCA and Proteopedia for CFHR1 Gene

neXtProt entry for CFHR1 Gene

Proteomics data for CFHR1 Gene at MOPED

Post-translational modifications for CFHR1 Gene

  • N-glycosylated. Two forms are observed; one with a single side chain and the other with two.
  • Glycosylation at Asn 126 and Asn 194
  • Modification sites at PhosphoSitePlus

Other Protein References for CFHR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for CFHR1 (Complement Factor H-related 1/CFHR1)

No data available for DME Specific Peptides for CFHR1 Gene

Domains & Families for CFHR1 Gene

Gene Families for CFHR1 Gene

Protein Domains for CFHR1 Gene

Suggested Antigen Peptide Sequences for CFHR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 5 Sushi (CCP/SCR) domains.
  • Contains 5 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with CFHR1: view

Function for CFHR1 Gene

Molecular function for CFHR1 Gene

UniProtKB/Swiss-Prot Function:
Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metabolism.

Phenotypes for CFHR1 Gene

genes like me logo Genes that share phenotypes with CFHR1: view

Human Phenotype Ontology for CFHR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CFHR1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CFHR1 Gene

Localization for CFHR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFHR1 Gene


Subcellular locations from

Jensen Localization Image for CFHR1 Gene COMPARTMENTS Subcellular localization image for CFHR1 gene
Compartment Confidence
extracellular 5
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CFHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with CFHR1: view

Pathways & Interactions for CFHR1 Gene

SuperPathways for CFHR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CFHR1 Gene


No data available for Pathways by source and SIGNOR curated interactions for CFHR1 Gene

Drugs & Compounds for CFHR1 Gene

(1) Drugs for CFHR1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CFHR1: view

Transcripts for CFHR1 Gene

Unigene Clusters for CFHR1 Gene

Complement factor H-related 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CFHR1 Gene

No ASD Table

Relevant External Links for CFHR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CFHR1 Gene

mRNA expression in normal human tissues for CFHR1 Gene

mRNA differential expression in normal tissues according to GTEx for CFHR1 Gene

This gene is overexpressed in Liver (x48.2).

Protein differential expression in normal tissues from HIPED for CFHR1 Gene

This gene is overexpressed in Synovial fluid (14.7), Serum (12.4), Gallbladder (9.1), Cerebrospinal fluid (6.9), and Plasma (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFHR1 Gene

SOURCE GeneReport for Unigene cluster for CFHR1 Gene Hs.575869

mRNA Expression by UniProt/SwissProt for CFHR1 Gene

Tissue specificity: Expressed by the liver and secreted in plasma.
genes like me logo Genes that share expression patterns with CFHR1: view

Protein tissue co-expression partners for CFHR1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CFHR1 Gene

Orthologs for CFHR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFHR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Mus musculus)
Mammalia Cfhr1 35
  • 68.5 (n)
  • 59.94 (a)
Cfhr1 16
(Pan troglodytes)
Mammalia CFHR1 35
  • 98.51 (n)
  • 97.03 (a)
CFHR1 36
  • 96 (a)
(Rattus norvegicus)
Mammalia LOC102554977 35
  • 73.98 (n)
  • 65.24 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 10 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 18 (a)
(Gallus gallus)
Aves -- 36
  • 9 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 16 (a)
(Danio rerio)
Actinopterygii cfhl5 36
  • 13 (a)
Species with no ortholog for CFHR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFHR1 Gene

Gene Tree for CFHR1 (if available)
Gene Tree for CFHR1 (if available)

Paralogs for CFHR1 Gene

Paralogs for CFHR1 Gene

(7) SIMAP similar genes for CFHR1 Gene using alignment to 2 proteins: Pseudogenes for CFHR1 Gene

genes like me logo Genes that share paralogs with CFHR1: view

Variants for CFHR1 Gene

Sequence variations from dbSNP and Humsavar for CFHR1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs425757 - 196,828,108(-) TATAT(A/G)AGCAT reference, missense
VAR_001981 -
rs388862 - 196,828,162(-) ACATT(C/G)ATAAC reference, missense
rs16840561 - 196,831,893(-) ATTCA(A/C/G/T)CTGAT reference, missense
rs4230 -- 196,831,912(+) AAACG(G/T)GGATA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CFHR1 Gene

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
dgv164e1 CNV Complex 17122850
nsv428290 CNV Gain+Loss 18775914
esv743 CNV CNV 17122850
nsv469810 CNV Loss 16826518
nsv471614 CNV Gain+Loss 15918152
dgv165e1 CNV Complex 17122850
dgv166e1 CNV Complex 17122850
dgv498n71 CNV Loss 21882294
nsv826008 CNV Loss 20364138
dgv167e1 CNV Complex 17122850
dgv168e1 CNV Complex 17122850
esv26552 CNV Gain+Loss 19812545
nsv8691 CNV Gain+Loss 18304495
dgv499n71 CNV Gain+Loss 21882294
dgv500n71 CNV Loss 21882294
dgv501n71 CNV Gain+Loss 21882294
nsv517662 CNV Gain+Loss 19592680
esv1001500 CNV Deletion 20482838
dgv54e201 CNV Deletion 23290073
nsv819563 CNV Gain 19587683
nsv436214 CNV Deletion 17901297
nsv820836 CNV Deletion 20802225
nsv3999 CNV Loss 18451855
nsv498700 CNV Loss 21111241
dgv87e199 CNV Deletion 23128226
dgv504n71 CNV Loss 21882294
esv2421560 CNV Deletion 20811451
esv2630480 CNV Deletion 19546169
esv2652513 CNV Loss 19546169
dgv8e180 CNV Loss 20482838
nsv442555 CNV CNV 18776908
dgv170e1 CNV Complex 17122850
dgv11e55 CNV Loss 17911159
dgv12e55 CNV Gain 17911159
essv8557 CNV CNV 17122850
dgv13e55 CNV Gain 17911159
dgv505n71 CNV Loss 21882294
dgv506n71 CNV Gain 21882294
nsv514031 CNV Loss 21397061
esv29961 CNV Gain 18421352
esv33169 CNV Gain+Loss 17666407
dgv507n71 CNV Gain+Loss 21882294
dgv88e199 CNV Deletion 23128226
dgv55e201 CNV Deletion 23290073
esv2672625 CNV Deletion 23128226
dgv25n16 CNV Insertion 17901297
nsv873026 CNV Gain 21882294
nsv873027 CNV Loss 21882294
dgv508n71 CNV Loss 21882294
dgv3n31 CNV Duplication 19718026
nsv498701 CNV Loss 21111241
nsv437324 CNV Loss 16327808
nsv471353 CNV Complex 19718026
nsv482142 CNV Gain 20164927
nsv438126 CNV Loss 16468122
nsv437335 CNV Loss 16327808
esv5113 CNV Deletion 18987735
nsv469599 CNV Loss 16826518
dgv171e1 CNV Complex 17122850
dgv509n71 CNV Gain 21882294
dgv510n71 CNV Loss 21882294
dgv511n71 CNV Gain+Loss 21882294
dgv512n71 CNV Gain+Loss 21882294

Variation tolerance for CFHR1 Gene

Residual Variation Intolerance Score: 92.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFHR1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFHR1 Gene

Disorders for CFHR1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for CFHR1 Gene - From: OMIM, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical
macular degeneration, age-related, 1
  • macular degeneration, age-related, 2
dense deposit disease
  • ddd
lyme disease
  • bannwarth syndrome
atypical hemolytic-uremic syndrome with anti-factor h antibodies
  • atypical hus with anti-factor h antibodies
- elite association - COSMIC cancer census association via MalaCards
Search CFHR1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CFHR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CFHR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CFHR1 Gene

Publications for CFHR1 Gene

  1. Molecular cloning of a human serum protein structurally related to complement factor H. (PMID: 1711047) Skerka C. … Zipfel P.F. (J. Biol. Chem. 1991) 2 3 4 67
  2. 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. (PMID: 19861685) Moore I. … Marchbank K.J. (Blood 2010) 3 23
  3. 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. (PMID: 20008295) Losse J. … JA^zsi M. (J. Immunol. 2010) 3 23
  4. The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome. (PMID: 19435718) Dragon-Durey M.A. … FrAcmeaux-Bacchi V. (J. Med. Genet. 2009) 3 23
  5. The opportunistic human pathogenic fungus Aspergillus fumigatus evades the host complement system. (PMID: 18039838) Behnsen J. … Zipfel P.F. (Infect. Immun. 2008) 3 23

Products for CFHR1 Gene

Sources for CFHR1 Gene