CFHR1 - complement factor H related 1 Gene

Homo sapiens

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

Gene ID: 3078 | Gene type: protein coding

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

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

Recombinant CFHR1 Proteins

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

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

Bioactive Molecules (1)

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

Orthologs Information

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

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