Identity
HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
CFHL,CFHL1,CFHL1P,CFHR1P,FHR-1,FHR1,H36,H36-1,H36-2,HFL1,HFL2
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3078
MIM: 134371
HGNC: 4888
Ensembl: ENSG00000244414
Variants:
dbSNP: 3078
ClinVar: 3078
TCGA: ENSG00000244414
COSMIC: CFHR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000244414 | ENST00000320493 | Q03591 |
| ENSG00000244414 | ENST00000367424 | B1AKG0 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38286352 | 2024 | CFHR1 involvement in bile duct carcinoma: Insights from a data mining study. | 0 |
| 38286352 | 2024 | CFHR1 involvement in bile duct carcinoma: Insights from a data mining study. | 0 |
| 36755127 | 2023 | CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome. | 1 |
| 37032353 | 2023 | The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases. | 2 |
| 36755127 | 2023 | CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndrome. | 1 |
| 37032353 | 2023 | The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases. | 2 |
| 34796567 | 2022 | High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome. | 1 |
| 35194132 | 2022 | A synthetic protein as efficient multitarget regulator against complement over-activation. | 5 |
| 35392081 | 2022 | Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation. | 7 |
| 35545301 | 2022 | Factor H-Related Protein 1 Drives Disease Susceptibility and Prognosis in C3 Glomerulopathy. | 8 |
| 36091034 | 2022 | Anti-factor H antibody and its role in atypical hemolytic uremic syndrome. | 4 |
| 36793547 | 2022 | CFH and CFHR structural variants in atypical Hemolytic Uremic Syndrome: Prevalence, genomic characterization and impact on outcome. | 5 |
| 34796567 | 2022 | High prevalence of CFHR deletions in Indian women with pregnancy-associated hemolytic uremic syndrome. | 1 |
| 35194132 | 2022 | A synthetic protein as efficient multitarget regulator against complement over-activation. | 5 |
| 35392081 | 2022 | Complement Factor H-Related Proteins FHR1 and FHR5 Interact With Extracellular Matrix Ligands, Reduce Factor H Regulatory Activity and Enhance Complement Activation. | 7 |
Citation
Dessen P
CFHR1 (complement factor H related 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-04-01
Online version: http://atlasgeneticsoncology.org/gene/53854/cfhr1-(complement-factor-h-related-1)
