1. Gene
  2. CFHR1 - complement factor H related 1 Gene

CFHR1 - complement factor H related 1 Gene

中文名称:补体因子 H 相关 1

种属: Homo sapiens

同用名: H36; CFHL; FHR1; HFL1; HFL2; CFHL1; FHL-1; FHR-1; H36-1; H36-2; CFHL1P; CFHR1P

基因 ID: 3078 | 基因类型: protein coding

关于 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).

功能概要

该基因编码属于补体因子 H 蛋白家族的分泌蛋白。它与铜绿假单胞菌延伸因子 Tuf 以及被蛋白水解激活的纤溶酶原结合。提出 Tuf 通过将宿主蛋白获取到病原体表面、控制补体和促进组织侵袭来充当毒力因子。该基因的突变与非典型溶血性尿毒症综合征的风险增加有关。[RefSeq 提供,2009 年 10 月]

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 基因产物(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 蛋白结构

Sushi

Sushi: Sushi repeat (SCR repeat) (23 - 83)

Sushi

Sushi: Sushi repeat (SCR repeat) (93 - 140)

Sushi

Sushi: Sushi repeat (SCR repeat) (147 - 201)

Sushi

Sushi: Sushi repeat (SCR repeat) (208 - 262)

Sushi

Sushi: Sushi repeat (SCR repeat) (286 - 327)

  • 0
  • 100
  • 200
  • 300
  • 330 a.a.
蛋白主名 其他名称

complement factor H-related protein 1

H factor (complement)-like 1

重组 CFHR1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70055 CFHR1 Protein, Human (HEK293, His) Q03591 (E19-R330) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus CFHR1 MGD MGI:2138169
Rattus norvegicus CFHR1 RGD RGD:1310510