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... See more...

Aliases for CFHR1 Gene

Aliases for CFHR1 Gene

  • Complement Factor H Related 1 2 3 5
  • CFHL 2 3 4
  • FHR1 2 3 4
  • Complement Factor H-Related 1 Pseudogene 2 3
  • Complement Factor H-Related Protein 1 3 4
  • 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
  • H36-1 2 3
  • H36-2 2 3
  • HFL1 3 4
  • HFL2 3 4
  • H36 3 4
  • Complement Factor H-Related 1 2
  • CFHR1 5

External Ids for CFHR1 Gene

Previous HGNC Symbols for CFHR1 Gene

  • HFL1
  • CFHL1
  • CFHR1P
  • HFL2
  • CFHL1P

Previous GeneCards Identifiers for CFHR1 Gene

  • GC01P195056
  • GC01P196788

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. Among its related pathways are Complement and coagulation cascades. An important paralog of this gene is CFHR2.

UniProtKB/Swiss-Prot Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CFHR1 Gene

Genomics for CFHR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CFHR1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J196828 Promoter/Enhancer 0.8 EPDnew Ensembl 250.4 +8.5 8525 0.7 RAD21 SMC3 CTCF SPI1 ELF1 CFHR1 CFH NONHSAG003847.2-002 LOC100996886 CFHR4 lnc-F13B-2
GH01J196743 Promoter 0.6 EPDnew 250.2 -76.2 -76228 0.1 ZNF654 CTCF FOXA2 RAD21 ZNF660 TRIM22 NONHSAG003847.2-001 CFHR1 CFHR3 CFH
GH01J196830 Promoter 0.3 EPDnew 250.4 +10.9 10910 0.1 CFHR1 F13B NONHSAG003847.2-002 LOC100996886 CFHR4 lnc-F13B-2
GH01J196747 Promoter 0.3 EPDnew 250.2 -72.6 -72584 0.1 CFHR1 NONHSAG003847.2-001 CFHR3 CFH
GH01J196649 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 8.3 -167.0 -167009 5.8 ATF3 YY1 SMAD5 TBP TAF9B FOXA2 RXRA ZNF316 ZBTB33 JUND CFH CFHR1 CFHR3 NONHSAG003845.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CFHR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CFHR1

Top Transcription factor binding sites by QIAGEN in the CFHR1 gene promoter:
  • aMEF-2
  • MEF-2A
  • NF-kappaB
  • NF-kappaB1
  • Pax-6
  • Zic1

Genomic Locations for CFHR1 Gene

Latest Assembly
chr1:196,819,731-196,832,189
(GRCh38/hg38)
Size:
12,459 bases
Orientation:
Plus strand

Previous Assembly
chr1:196,788,861-196,801,319
(GRCh37/hg19 by Entrez Gene)
Size:
12,459 bases
Orientation:
Plus strand

chr1:196,788,887-196,801,319
(GRCh37/hg19 by Ensembl)
Size:
12,433 bases
Orientation:
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:
    Q03591-FHR1_HUMAN
    Recommended name:
    Complement factor H-related protein 1
    Protein Accession:
    Q03591
    Secondary Accessions:
    • A8K465
    • Q3B774
    • Q9UJ17

    Protein attributes for CFHR1 Gene

    Size:
    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

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 Asn126 and Asn194
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for CFHR1 Gene

Domains & Families for CFHR1 Gene

Gene Families for CFHR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for CFHR1 Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for CFHR1 Gene

GenScript: Design optimal peptide antigens:
  • H36 (FHR1_HUMAN)
  • FHR-1 (Q6LBM9_HUMAN)
genes like me logo Genes that share domains with CFHR1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CFHR1 Gene

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 From GWAS Catalog for CFHR1 Gene

Gene Ontology (GO) - Molecular Function for CFHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19528535
GO:0042802 identical protein binding IPI 19528535
genes like me logo Genes that share ontologies with CFHR1: view
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 Models for research

  • Taconic Biosciences Mouse Models for CFHR1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR1

No data available for Enzyme Numbers (IUBMB) , 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

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFHR1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CFHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 1711047
GO:0032991 protein-containing complex IDA 23487775
GO:0072562 blood microparticle HDA 22516433
genes like me logo Genes that share ontologies with CFHR1: view

Pathways & Interactions for CFHR1 Gene

PathCards logo

SuperPathways for CFHR1 Gene

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

Pathways by source for CFHR1 Gene

1 KEGG pathway for CFHR1 Gene

SIGNOR curated interactions for CFHR1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for CFHR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006956 complement activation TAS 1711047
GO:0030449 regulation of complement activation TAS --
GO:0032091 negative regulation of protein binding IMP 23487775
GO:0051838 cytolysis by host of symbiont cells IMP 23487775
genes like me logo Genes that share ontologies with CFHR1: view

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

mRNA/cDNA for CFHR1 Gene

8 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CFHR1

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

No ASD Table

Relevant External Links for CFHR1 Gene

GeneLoc Exon Structure for
CFHR1

Expression for CFHR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CFHR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Liver (Hepatobiliary System)

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 and MOPED for CFHR1 Gene



Protein tissue co-expression partners for CFHR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CFHR1

SOURCE GeneReport for Unigene cluster for CFHR1 Gene:

Hs.575869

mRNA Expression by UniProt/SwissProt for CFHR1 Gene:

Q03591-FHR1_HUMAN
Tissue specificity: Expressed by the liver and secreted in plasma.

Evidence on tissue expression from TISSUES for CFHR1 Gene

  • Liver(4.9)
  • Muscle(4.3)
  • Bone marrow(4.2)
  • Kidney(3.1)
  • Blood(2.4)
  • Heart(2.2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFHR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
Thorax:
  • heart
  • lung
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with CFHR1: view

Orthologs for CFHR1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFHR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CFHR1 29 30
  • 98.51 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC102554977 29
  • 73.98 (n)
Mouse
(Mus musculus)
Mammalia Cfhr1 29 16
  • 68.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 18 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 10 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 30
  • 9 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 16 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii cfhl5 30
  • 13 (a)
ManyToMany
Species where no ortholog for CFHR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for CFHR1 (if available)
TreeFam:
Gene Tree for CFHR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CFHR1: view image
Alliance of Genome Resources:
Additional Orthologs for CFHR1

Paralogs for CFHR1 Gene

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

  • FHR1_HUMAN
  • B1AKG0_HUMAN

Pseudogenes.org Pseudogenes for CFHR1 Gene

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

Variants for CFHR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CFHR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1029559 Uncertain Significance: Atypical hemolytic-uremic syndrome 1 196,830,535(+) G/A
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn)
MISSENSE
915861 Uncertain Significance: Chronic kidney disease 196,830,619(+) C/G
NM_002113.3(CFHR1):c.727C>G
MISSENSE
915864 Uncertain Significance: Chronic kidney disease 196,830,683(+) G/A
NM_002113.3(CFHR1):c.790+1G>A
SPLICE_DONOR
915865 Uncertain Significance: Chronic kidney disease 196,831,917(+) A/G
NM_002113.3(CFHR1):c.911A>G
MISSENSE
rs16840561 -- p.Ala296Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CFHR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv11e55 CNV loss 17911159
dgv12e55 CNV gain 17911159
dgv133e212 CNV loss 25503493
dgv13e55 CNV gain 17911159
dgv25n16 CNV insertion 17901297
dgv3n31 CNV gain 19718026
dgv42e201 CNV deletion 23290073
dgv43e201 CNV deletion 23290073
dgv503n100 CNV gain 25217958
dgv504n100 CNV gain 25217958
dgv505n100 CNV gain 25217958
dgv507n100 CNV loss 25217958
dgv508n100 CNV loss 25217958
dgv510n100 CNV gain+loss 25217958
dgv511n100 CNV gain 25217958
dgv519n100 CNV gain+loss 25217958
dgv520n100 CNV gain 25217958
dgv521n100 CNV loss 25217958
dgv522n100 CNV loss 25217958
dgv523n100 CNV gain 25217958
dgv524n100 CNV gain+loss 25217958
dgv525n100 CNV loss 25217958
dgv526n100 CNV gain+loss 25217958
dgv527n100 CNV gain 25217958
dgv528n100 CNV loss 25217958
dgv529n100 CNV gain+loss 25217958
dgv532n100 CNV gain 25217958
dgv534n100 CNV loss 25217958
dgv535n100 CNV gain+loss 25217958
dgv536n100 CNV gain+loss 25217958
dgv537n100 CNV gain 25217958
dgv538n100 CNV loss 25217958
dgv539n100 CNV gain 25217958
dgv540n100 CNV gain+loss 25217958
dgv541n100 CNV gain 25217958
dgv542n100 CNV gain 25217958
dgv543n100 CNV loss 25217958
dgv544n100 CNV loss 25217958
dgv545n100 CNV gain 25217958
dgv546n100 CNV gain 25217958
dgv547n100 CNV loss 25217958
dgv548n100 CNV loss 25217958
dgv549n100 CNV gain+loss 25217958
dgv550n100 CNV gain 25217958
dgv6e203 CNV gain+loss 21179565
dgv733n54 CNV loss 21841781
dgv734n54 CNV loss 21841781
dgv739n54 CNV loss 21841781
dgv740n54 CNV loss 21841781
dgv741n54 CNV loss 21841781
dgv744n54 CNV loss 21841781
dgv745n54 CNV loss 21841781
dgv746n54 CNV loss 21841781
dgv747n54 CNV loss 21841781
dgv748n54 CNV gain 21841781
dgv749n54 CNV loss 21841781
dgv750n54 CNV loss 21841781
dgv751n54 CNV loss 21841781
dgv87e199 CNV deletion 23128226
dgv88e199 CNV deletion 23128226
dgv8e180 CNV loss 20482838
esv1001500 CNV deletion 20482838
esv2421560 CNV deletion 20811451
esv2630480 CNV deletion 19546169
esv2652513 CNV loss 19546169
esv26552 CNV gain+loss 19812545
esv2672625 CNV deletion 23128226
esv2758990 CNV gain+loss 17122850
esv29961 CNV gain 18421352
esv3030456 CNV deletion 24192839
esv33169 CNV gain+loss 17666407
esv3544666 CNV deletion 23714750
esv3578358 CNV loss 25503493
esv3584613 CNV loss 24956385
esv3588469 CNV loss 21293372
esv3588478 CNV loss 21293372
esv3890993 CNV gain+loss 25118596
esv3891004 CNV gain+loss 25118596
esv3891026 CNV gain+loss 25118596
esv5113 CNV loss 18987735
nsv1003452 CNV loss 25217958
nsv1008077 CNV gain 25217958
nsv1008777 CNV gain 25217958
nsv1008827 CNV loss 25217958
nsv1010736 CNV gain 25217958
nsv1013569 CNV loss 25217958
nsv1068779 CNV deletion 25765185
nsv1118141 CNV deletion 24896259
nsv1130635 CNV deletion 24896259
nsv1159841 CNV deletion 26073780
nsv1159842 CNV duplication 26073780
nsv3999 CNV deletion 18451855
nsv428290 CNV gain+loss 18775914
nsv436214 CNV deletion 17901297
nsv437324 CNV loss 16327808
nsv437335 CNV loss 16327808
nsv438126 CNV loss 16468122
nsv442555 CNV loss 18776908
nsv469599 CNV loss 16826518
nsv469810 CNV loss 16826518
nsv471353 CNV gain+loss 19718026
nsv471614 CNV gain+loss 15918152
nsv482142 CNV gain 20164927
nsv498700 CNV loss 21111241
nsv498701 CNV loss 21111241
nsv514031 CNV loss 21397061
nsv517662 CNV gain+loss 19592680
nsv528460 CNV gain 19592680
nsv548766 CNV gain 21841781
nsv548801 CNV loss 21841781
nsv548803 CNV gain 21841781
nsv548808 CNV loss 21841781
nsv548815 CNV loss 21841781
nsv548828 CNV gain 21841781
nsv548829 CNV loss 21841781
nsv548831 CNV loss 21841781
nsv819563 CNV gain 19587683
nsv820836 CNV deletion 20802225
nsv826008 CNV loss 20364138
nsv8691 CNV gain+loss 18304495
nsv946559 CNV duplication 23825009
nsv999866 CNV gain+loss 25217958

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)

Additional Variant Information for CFHR1 Gene

Human Gene Mutation Database (HGMD)
CFHR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFHR1
Leiden Open Variation Database (LOVD)
CFHR1

SNP Genotyping and Copy Number Assays for research

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

Disorders for CFHR1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for CFHR1 Gene - From: OMI, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hemolytic uremic syndrome, atypical 1
  • hemolytic uremic syndrome, atypical, susceptibility to, 1
macular degeneration, age-related, 1
  • armd1
c3 glomerulopathy 3
  • c3g3
complement factor h deficiency
  • cfhd
hemolytic-uremic syndrome
  • haemolytic-uraemic syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CFHR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FHR1_HUMAN
  • Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269 PubMed:17367211}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. A deletion encompassing CFHR1 and CFHR3 is associated with an increased risk of atypical hemolytic uremic syndrome, likely due to a defective regulation of complement activation (PubMed:17367211). Some patients carrying the deletion have serum anti-CFH autoantibodies (PubMed:18006700). {ECO:0000269 PubMed:17367211, ECO:0000269 PubMed:18006700}.

Additional Disease Information for CFHR1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CFHR1: view

No data available for Genatlas for CFHR1 Gene

Publications for CFHR1 Gene

  1. 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 MA … Frémeaux-Bacchi V (Journal of medical genetics 2009) 3 22 40
  2. Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome. (PMID: 17367211) Zipfel PF … Skerka C (PLoS genetics 2007) 3 4 22
  3. Molecular cloning of a human serum protein structurally related to complement factor H. (PMID: 1711047) Skerka C … Zipfel PF (The Journal of biological chemistry 1991) 2 3 4
  4. 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. (PMID: 1826708) Estaller C … Weiss EH (Journal of immunology (Baltimore, Md. : 1950) 1991) 2 3 4
  5. Serum FHR1 binding to necrotic-type cells activates monocytic inflammasome and marks necrotic sites in vasculopathies. (PMID: 31273197) Irmscher S … Skerka C (Nature communications 2019) 2 3

Products for CFHR1 Gene

Sources for CFHR1 Gene