CFH - complement factor H Gene
Also Known as FH; HF; HF1; HF2; HUS; FHL1; AHUS1; AMBP1; ARMD4; ARMS1; CFHL3
Species: Homo sapiens
About CFH
This gene has 39 transcripts (splice variants), 19 orthologues, 39 paralogues and is associated with 12 phenotypes. Biased expression in liver (RPKM 390.3), gall bladder (RPKM 78.0) and 9 other tissues.
Summary
This gene is a member of the Regulator of Complement Activation (RCA) gene cluster and encodes a protein with twenty short consensus repeat (SCR) domains. This protein is secreted into the bloodstream and has an essential role in the regulation of complement activation, restricting this innate defense mechanism to microbial infections. Mutations in this gene have been associated with hemolytic-uremic syndrome (HUS) and chronic hypocomplementemic nephropathy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Oct 2011]
CFH Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000186.4 | NP_000177.2 | complement factor H isoform a precursor |
| NM_001014975.3 | NP_001014975.1 | complement factor H isoform b precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables heparan sulfate proteoglycan binding |
IDA
IDA: Inferred from direct assay
|
22471560 | GOA |
| enables heparin binding |
IDA
IDA: Inferred from direct assay
|
22471560 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
19505476 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16612335 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in complement activation |
IDA
IDA: Inferred from direct assay
|
24835392 | GOA |
| involved in proteolysis |
IDA
IDA: Inferred from direct assay
|
28671664 | GOA |
| acts upstream of or within regulation of complement activation |
IDA
IDA: Inferred from direct assay
|
25284781 | GOA |
| involved in regulation of complement activation, alternative pathway |
IDA
IDA: Inferred from direct assay
|
20378178 | GOA |
| acts upstream of or within regulation of complement-dependent cytotoxicity |
IDA
IDA: Inferred from direct assay
|
25284781 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of serine-type endopeptidase complex |
IPI
IPI: Inferred from physical interaction
|
28671664 | GOA |
| located in symbiont cell surface |
IDA
IDA: Inferred from direct assay
|
23332154 | GOA |
CFH Protein Structure
Sushi: Sushi repeat (SCR repeat) (32 - 80)
Sushi: Sushi repeat (SCR repeat) (85 - 141)
Sushi: Sushi repeat (SCR repeat) (154 - 205)
Sushi: Sushi repeat (SCR repeat) (210 - 262)
Sushi: Sushi repeat (SCR repeat) (267 - 320)
Sushi: Sushi repeat (SCR repeat) (325 - 385)
Sushi: Sushi repeat (SCR repeat) (395 - 442)
Sushi: Sushi repeat (SCR repeat) (455 - 505)
Sushi: Sushi repeat (SCR repeat) (509 - 564)
Sushi: Sushi repeat (SCR repeat) (574 - 623)
Sushi: Sushi repeat (SCR repeat) (630 - 684)
Sushi: Sushi repeat (SCR repeat) (691 - 744)
Sushi: Sushi repeat (SCR repeat) (811 - 864)
Sushi: Sushi repeat (SCR repeat) (870 - 926)
Sushi: Sushi repeat (SCR repeat) (931 - 984)
Sushi: Sushi repeat (SCR repeat) (993 - 1043)
Sushi: Sushi repeat (SCR repeat) (1048 - 1102)
Sushi: Sushi repeat (SCR repeat) (1109 - 1163)
Sushi: Sushi repeat (SCR repeat) (1189 - 1228)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1231 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
complement factor H |
|
CFH Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CFH | P08603 | PTX3 | Homo sapiens | P26022 | 19050261 | |
|
Intra
|
CFH | P08603 | APOE | Homo sapiens | P02649 | 26468283 | |
|
Intra
|
CFH | P08603 | APOE | Homo sapiens | P02649 | 26468283 | |
|
Intra
|
CFH | P08603 | APOE | Homo sapiens | P02649 | 26468283 | |
|
Intra
|
CFH | P08603 | APOE | Homo sapiens | P02649 | 26468283 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 17293598 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 19680263 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 19680263 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 28533443 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 17293598 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 17293598 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 17339482 | |
|
Intra
|
CFH | P08603 | CRP | Homo sapiens | P02741 | 19084272 | |
|
Cross
|
CFH | P08603 | fhbP | Neisseria meningitidis serogroup B | Q9JXV4 | 19225461 | |
|
Cross
|
CFH | P08603 | fhbP | Neisseria meningitidis serogroup B | Q9JXV4 | 19225461 | |
|
Cross
|
CFH | P08603 | fhbP | Neisseria meningitidis serogroup B | Q9JXV4 | 19225461 | |
|
Cross
|
CFH | P08603 | fhbP | Neisseria meningitidis serogroup B | Q9JXV4 | 19225461 | |
|
Intra
|
CFH | P08603 | P02741-PRO_0000023526 | Homo sapiens | P02741-PRO_0000023526 | 17244159 | |
|
Intra
|
CFH | P08603 | P26022-PRO_0000023545 | Homo sapiens | P26022-PRO_0000023545 | 22786770 | |
|
Cross
|
CFH | P08603 | ennX | Streptococcus pyogenes serotype M49 | P16946 | 18627465 | |
|
Intra
|
CFH | P08603 | P01024-PRO_0000005908 | Homo sapiens | P01024-PRO_0000005908 | 16612335 | |
|
Intra
|
CFH | P08603 | P01024-PRO_0000005908 | Homo sapiens | P01024-PRO_0000005908 | 28671664 | |
|
Intra
|
CFH | P08603 | P01024-PRO_0000005908 | Homo sapiens | P01024-PRO_0000005908 | 16612335 | |
|
Cross
|
CFH | P08603 | FMOD | Bos taurus | P13605 | 17293598 | |
|
Cross
|
CFH | P08603 | FMOD | Bos taurus | P13605 | 17293598 | |
|
Cross
|
CFH | P08603 | FMOD | Bos taurus | P13605 | 17293598 |
Recombinant CFH Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7890 | Complement factor H/CFH Protein, Human (HEK293, His, solution) | P08603-2 (E19-L449) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72946 | Complement factor H/CFH Protein, Human (372a.a, HEK293, His) | P08603-1 (S860-R1231) | ≥ 95%, as determined by reducing SDS-PAGE. |
CFH Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P83616 | Factor H Antibody (YA3361) | WB, ICC/IF | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Complement Factor H Deficiency |
|
|
| Hemolytic Uremic Syndrome, Atypical 1 |
|
|
| Macular Degeneration, Age-Related, 4 |
|
|
| Basal Laminar Drusen |
|
|
| Membranoproliferative Glomerulonephritis |
|
|
| D-Minus Hemolytic Uremic Syndrome |
|
|
| Nephrotic Syndrome, Type 7 |
|
|
| Familial Drusen |
|
|
| Atypical Hemolytic Uremic Syndrome With Complement Gene Abnormality |
|
|
| Hemolytic-Uremic Syndrome |
|
|
| De Novo Thrombotic Microangiopathy After Kidney Transplantation |
|
|
| Relapsing Fever |
|
|
| Retinal Drusen |
|
|
| Hellp Syndrome |
|
|
| Chronic Kidney Disease |
|
|
| Choroiditis |
|
|
| End Stage Renal Disease |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Lyme Disease |
|
|
| Central Serous Chorioretinopathy |
|
|
| Glomerulonephritis |
|
|
| Collagen Type Iii Glomerulopathy |
|
|
| Spirochetes Disease |
|
|
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Degeneration Of Macula And Posterior Pole |
|
|
| West Nile Virus |
|
|
| Histoplasmosis |
|
|
| Eye Disease |
|
|
| Antiphospholipid Syndrome |
|
|
| Kuhnt-Junius Degeneration |
|
|
| Hemolytic Anemia |
|
|
| Alport Syndrome |
|
|
| Eye Degenerative Disease |
|
|
| Acute Kidney Failure |
|
|
| Complement Deficiency |
|
|
| Stargardt Disease |
|
|
| C3 Glomerulopathy |
|
|
| Retinal Detachment |
|
|
| Haemophilus Influenzae |
|
|
| Thrombocytopenia |
|
|
| Pseudoxanthoma Elasticum |
|
|
| Louse-Borne Relapsing Fever |
|
|
| Malignant Hypertension |
|
|
| Iga Glomerulonephritis |
|
|
| Angioid Streaks |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
|
| Macular Dystrophy, Patterned, 3 |
|
|
| Acute Poststreptococcal Glomerulonephritis |
|
|
| Doyne Honeycomb Retinal Dystrophy |
|
|
| Cataract 23, Multiple Types |
|
|
| Degenerative Myopia |
|
|
| Meningococcal Meningitis |
|
|
| Sorsby Fundus Dystrophy |
|
|
| Proliferative Glomerulonephritis |
|
|
| Hypertensive Retinopathy |
|
|
| Complement Component 3 Deficiency |
|
|
| Kidney Disease |
|
|
| Retinal Disease |
|
|
| Systemic Lupus Erythematosus |
|
|
| Immune-Complex Glomerulonephritis |
|
|
| Sensory System Disease |
|
|
| Myocardial Infarction |
|
|
| Disseminated Chorioretinitis |
|
|
| Malaria |
|
|
| Lens Disease |
|
|
| Late-Onset Retinal Degeneration |
|
|
| Methylmalonic Acidemia |
|
|
| Retinitis Pigmentosa |
|
|
| Refractive Error |
|
|
| Blood Platelet Disease |
|
|
| Cardiomyopathy, Dilated, 1l |
|
|
| Deficiency Anemia |
|
|
| Complement Component 2 Deficiency |
|
|
| Exudative Vitreoretinopathy 1 |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Fundus Dystrophy |
|
|
| Nervous System Disease |
|
|
| Leber Plus Disease |
|
|
| Cone-Rod Dystrophy 2 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CFH | RGD | RGD:620428 |
| Mus musculus | CFH | MGD | MGI:88385 |
| Others | CFH | NCBI |