CFHR1 - complement factor H related 1 Gene

Also Known as H36; CFHL; FHR1; HFL1; HFL2; CFHL1; FHL-1; FHR-1; H36-1; H36-2; CFHL1P; CFHR1P

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3078

About CFHR1

Cytogenetic location: 1q31.3 Genomic coordinates (GRCh38): 1:196,819,731-196,832,189 (from NCBI)

This gene has 8 transcripts (splice variants), 49 orthologues, 39 paralogues and is associated with 5 phenotypes. Biased expression in liver (RPKM 605.6) and gall bladder (RPKM 13.9).

Summary

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]

CFHR1 Products (8)

mRNA	Protein	Name
NM_001379306.1	NP_001366235.1	complement factor H-related protein 1 isoform 2 precursor
NM_001379307.1	NP_001366236.1	complement factor H-related protein 1 isoform 3 precursor
NM_001379308.1	NP_001366237.1	complement factor H-related protein 1 isoform 4 precursor
NM_001379309.1	NP_001366238.1	complement factor H-related protein 1 isoform 5 precursor
NM_001379310.1	NP_001366239.1	complement factor H-related protein 1 isoform 6 precursor
NM_001379311.1	NP_001366240.1	complement factor H-related protein 1 isoform 7 precursor
NM_001379312.1	NP_001366241.1	complement factor H-related protein 1 isoform 8 precursor
NM_002113.3	NP_002104.2	complement factor H-related protein 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	19528535	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19528535	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytolysis by host of symbiont cells	IMP IMP: Inferred from mutant phenotype	23487775	GOA
involved in negative regulation of protein binding	IMP IMP: Inferred from mutant phenotype	23487775	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of protein-containing complex	IDA IDA: Inferred from direct assay	23487775	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CFHR1 Protein Structure

Sushi

0
100
200
300
330 a.a.

Protein Preferred Names	Protein Names
complement factor H-related protein 1	H factor (complement)-like 1

CFHR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CFHR1	Q03591	ADGRE2	Homo sapiens	Q9UHX3	ELISA	31273197
Intra	CFHR1	Q03591	ADGRE2	Homo sapiens	Q9UHX3	PLA	31273197
Intra	CFHR1	Q03591	ADGRE2	Homo sapiens	Q9UHX3	SPR	31273197
Intra	CFHR1	Q03591	CFHR5	Homo sapiens	Q9BXR6	Affinity Chrom	23728178
Intra	CFHR1	Q03591	CFHR5	Homo sapiens	Q9BXR6	BN-PAGE	23728178
Intra	CFHR1	Q03591	CRP	Homo sapiens	P02741	ELISA	28533443
Intra	CFHR1	Q03591	CFHR2	Homo sapiens	P36980	ELISA	31273197
Intra	CFHR1	Q03591	CFHR2	Homo sapiens	P36980	BN-PAGE	23728178
Intra	CFHR1	Q03591	CFHR2	Homo sapiens	P36980	Affinity Chrom	23728178
Intra	CFHR1	Q03591	P26022-PRO_0000023545	Homo sapiens	P26022-PRO_0000023545	ELISA	28533443
Intra	CFHR1	Q03591	CFHR1	Homo sapiens	Q03591	ELISA	31273197
Intra	CFHR1	Q03591	CFHR1	Homo sapiens	Q03591	BN-PAGE	23728178
Intra	CFHR1	Q03591	CFHR1	Homo sapiens	Q03591	Electrophoresis	19528535
Intra	CFHR1	Q03591	CFHR1	Homo sapiens	Q03591	EM	23728178
Intra	CFHR1	Q03591	C5	Homo sapiens	P01031	ELISA	19528535

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CFHR1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70055	CFHR1 Protein, Human (HEK293, His)	Q03591 (E19-R330)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Hemolytic Uremic Syndrome, Atypical 1	Atypical Hemolytic-Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 Atypical Hemolytic Uremic Syndrome Hemolytic Uremic Syndrome, Atypical, Susceptibility To Ahus AHUS1 Hemolytic-Uremic Syndrome Ahus 1 Ahus, Susceptibility To, 1 Hemolytic Uremic Syndrome, Atypical Non-Shiga-Like Toxin-Associated Hus Non-Stx-Hus Nonenteropathic Hus Atypical Hus Shiga Toxin-Associated Hemolytic Uremic Syndrome D+ Hus Ehec-Hus Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli Hemolytic Uremic Syndrome With Diarrhea Stec-Hus Shiga-Like Toxin-Associated Hus Stx-Hus Typical Hus Typical Hemolytic Uremic Syndrome Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies Atypical Hus With Anti-Factor H Antibodies Ahus With Anti-Factor H Antibodies Ahus With Neutralizing Autoantibodies Against Factor H Hemolytic Uremic Syndrome Atypical 1 Atypical Hemolytic Uremic Syndrome With H Factor Anomaly D Hus Hemolytic-Uremic Syndrome Without Diarrhea Hemolytic-Uremic Syndrome, Atypical, Type 1 Hemolytic Uremic Syndrome, Typical
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
C3 Glomerulopathy	C3 Glomerulonephritis C3g Non-Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis Glomerulonephritis With Dominant C3 Ddd Ddd/Mpgnii Dense Deposit Disease Membranoproliferative Glomerulonephritis Type Ii Non-Ig-Mediated Mpgn Non-Ig-Mediated Membranoproliferative Glomerulonephritis Non-Immunoglobulin-Mediated Mpgn Membranoproliferative Glomerulonephritis, Type Ii
Membranoproliferative Glomerulonephritis	Mesangiocapillary Glomerulonephritis Dense Deposit Disease Membranoproliferative Glomerulonephritis Type 2 Primary Membranoproliferative Glomerulonephritis Mesangiocapillary Glomerulonephritis, Type Ii Glomerulonephritis, Membranoproliferative Chronic Glomerulonephritis, Lobular Lobular Glomerulonephritis Ddd Glomerulonephritis Membranoproliferative Type 2 Mpgn 2 Membranoproliferative Glomerulonephritis Type Ii Mesangiocapillary Glomerulonephritis Type 2 Mpgn Primary Mpgn Glomerulonephritis Membranoproliferative Membranoproliferative Glomerulonephritis, Type Ii
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome Haemolytic-Uraemic Syndrome Hus Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes Typical Haemolytic Uraemic Syndrome Gasser Syndrome Hus - [Haemolytic Uraemic Syndrome]
Lyme Disease	Lyme Borreliosis Lyme Neuroborreliosis Borreliosis Borrelia Burgdorferi Infection Neuroborreliosis Bannwarth Syndrome Bannworth'S Syndrome Neurological Lyme Disease B. Burgdorferi Infection Borreliosis, Lyme Infection By Borrelia Burgdorferi Infection Due To Borrelia Burgdorferi Sensu Lato Lym Borrelia Infections
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	MCPH2 Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations Microcephaly, Primary Autosomal Recessive, 2
Exudative Glomerulonephritis
Complement Deficiency	Complement Deficiency Disease Hereditary Complement Deficiency Diseases
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Kid Syndrome Keratitis-Ichthyosis-Deafness Syndrome Senter Syndrome KIDAD Kid Syndrome, Autosomal Dominant Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome Ichthyosis Hystrix Rheydt Type Kid/Hid Syndrome Keratitis-Ichthyosis-Deafness/Hystrix-Like Ichthyosis-Deafness Syndrome Keratitis Ichthyosis And Deafness Syndrome Autosomal Dominant Kid Syndrome Keratitis, Ichthyosis, And Deafness Syndrome Ichthyosiform Erythroderma, Corneal Involvement, And Deafness Keratitis, Ichthyosis, And Deafness Keratitis-Ichthyosis-Hearing Loss/Hystrix-Like Ichthyosis-Hearing Loss Syndrome
Hemolytic Anemia	Anemia, Hemolytic Anemia Hemolytic Anaemia Due To Other Disorders Of Glutathione Metabolism Chronic Non Spherocytic Anaemia G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia Favism Anaemia Haemolytic Anaemia Due Tog6pd Deficiency Favism Pentose Phosphate Pathway Disorder Anaemia Anaemia Due To Pentose Phosphate Pathway Defect
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Malignant Hypertension	Hypertension, Malignant Hypertension Malignant
Relapsing Fever	Febris Recurrens Novy Febris Recurrens Novy Relapsing Fever
Tick-Borne Relapsing Fever	Relapsing Fever, Tick-Borne Relapsing Fever Due To Any Borrelia Species Other Than Borrelia Recurrentis African Tick-Borne Fever
Methylmalonic Aciduria And Homocystinuria, Cblc Type	MAHCC Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic Methylmalonic Aciduria And Homocystinuria Type Cblc Cobalamin C Disease Methylmalonic Acidemia With Homocystinuria Cblc Methylmalonic Acidemia And Homocystinuria, Cblc Type Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive Cobalamin C Deficiency Methylmalonic Acidemia With Homocystinuria, Type Cblc Cblc Defect Cobalamin C Defect Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc Methylmalonic Aciduria With Homocystinuria, Type Cblc Methylmalonic Acidemia And Homocystinuria Cblc Type Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive Aciduria, Methylmalonic, And Homocystinuria, Cblc Type Methylmalonic Acidemia With Homocystinuria
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Iga Glomerulonephritis	Iga Nephropathy Glomerulonephritis, Iga Berger'S Iga Or Igg Nephropathy Focal Glomerulonephritis Primary Iga Nephropathy Segmental Glomerulonephritis Berger Disease Berger'S Disease Igan Nephritis, Iga Type Nephropathy Iga Glomerulonephritis Focal Iga Nephropathy, Susceptibility To Primary Immunoglobulin A Nephropathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02562	CFHR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19996	Cfhr1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26500	Cfhr1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CFHR1	MGD	MGI:2138169
Rattus norvegicus	CFHR1	RGD	RGD:1310510