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

CFHR1 - complement factor H related 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IPI
IPI: 通过物理相互作用推断
19528535 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19528535 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cytolysis by host of symbiont cells IMP
IMP: 通过突变表型推断
23487775 GOA
involved in negative regulation of protein binding IMP
IMP: 通过突变表型推断
23487775 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of protein-containing complex IDA
IDA: 通过直接分析推断
23487775 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

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

CFHR1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CFHR1 Q03591 ADGRE2 Homo sapiens Q9UHX3
ELISA
31273197
种属内
CFHR1 Q03591 ADGRE2 Homo sapiens Q9UHX3
PLA
31273197
种属内
CFHR1 Q03591 ADGRE2 Homo sapiens Q9UHX3
SPR
31273197
种属内
CFHR1 Q03591 CFHR5 Homo sapiens Q9BXR6
Affinity Chrom
23728178
种属内
CFHR1 Q03591 CFHR5 Homo sapiens Q9BXR6
BN-PAGE
23728178
种属内
CFHR1 Q03591 CRP Homo sapiens P02741
ELISA
28533443
种属内
CFHR1 Q03591 CFHR2 Homo sapiens P36980
ELISA
31273197
种属内
CFHR1 Q03591 CFHR2 Homo sapiens P36980
BN-PAGE
23728178
种属内
CFHR1 Q03591 CFHR2 Homo sapiens P36980
Affinity Chrom
23728178
种属内
CFHR1 Q03591 P26022-PRO_0000023545 Homo sapiens P26022-PRO_0000023545
ELISA
28533443
种属内
CFHR1 Q03591 CFHR1 Homo sapiens Q03591
ELISA
31273197
种属内
CFHR1 Q03591 CFHR1 Homo sapiens Q03591
BN-PAGE
23728178
种属内
CFHR1 Q03591 CFHR1 Homo sapiens Q03591
Electrophoresis
19528535
种属内
CFHR1 Q03591 CFHR1 Homo sapiens Q03591
EM
23728178
种属内
CFHR1 Q03591 C5 Homo sapiens P01031
ELISA
19528535
种属间: 跨种属相互作用 种属内: 同种属相互作用

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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02562 CFHR1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

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
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