CFHR1 (complement factor H related 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3078
Gene name Gene Name - the full gene name approved by the HGNC.
Complement factor H related 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CFHR1
Synonyms (NCBI Gene) Gene synonyms aliases
CFHL, CFHL1, CFHL1P, CFHR1P, FHL-1, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 f
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT1963214 hsa-miR-3691-3p CLIP-seq
MIRT1963215 hsa-miR-4517 CLIP-seq
MIRT1963216 hsa-miR-889 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19528535, 22786770, 23487775, 23728178, 28533443, 31273197
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space TAS 1711047
GO:0006956 Process Complement activation TAS 1711047
GO:0030449 Process Regulation of complement activation TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
134371 4888 ENSG00000244414
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q03591
Protein name Complement factor H-related protein 1 (FHR-1) (H factor-like protein 1) (FHL-1) (H-factor-like 1) (H36)
Protein function Involved in complement regulation. The dimerized forms have avidity for tissue-bound complement fragments and efficiently compete with the physiological complement inhibitor CFH. Can associate with lipoproteins and may play a role in lipid metab
PDB 3ZD2 , 4MUC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 23 → 83 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 87 → 140 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 147 → 201 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 208 → 262 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 266 → 327 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.
Sequence
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Complement and coagulation cascades   Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)
Glomerulonephritis IGA Glomerulonephritis rs778043831 21399633
Hemolytic uremic syndrome Hemolytic-Uremic Syndrome, Atypical Hemolytic Uremic Syndrome, Atypical hemolytic uremic syndrome with anti-factor H antibodies rs398124292, rs121964913, rs33972593, rs460897, rs121909590, rs121909583, rs460184, rs104886189, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868
View all (24 more)
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
C3 glomerulopathy CFHR5 DEFICIENCY, C3 glomerulopathy 23728178, 27458560, 17367211 ClinVar
Hemolytic Uremic Syndrome hemolytic uremic syndrome, atypical, susceptibility to, 1 GenCC
Dense Deposit Disease dense deposit disease GenCC
Show/Hide Text Mining Associations (54)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 31485643
Atherosclerosis Stimulate 34795372
Atrial Fibrillation Associate 32389013
Atypical Hemolytic Uremic Syndrome Associate 17367211, 18006700, 19745068, 20016463, 21617085, 22410797, 22494769, 22786770, 22894814, 23243267, 23880784, 25659429, 28993505, 30715674, 31118930
View all (7 more)
Autoimmune Diseases Associate 23728171
Bile Duct Neoplasms Associate 38286352
Brain Neoplasms Associate 26849056
Calcinosis Associate 35398599
Cardiomyopathies Associate 37147581
Central Serous Chorioretinopathy Associate 30073298