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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 nameGene Name - the full gene name approved by the HGNC.
Complement factor H related 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CFHR1
SynonymsGene synonyms aliases
CFHL, CFHL1, CFHL1P, CFHR1P, FHL-1, FHR-1, FHR1, H36, H36-1, H36-2, HFL1, HFL2
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 IDsOther 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
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
Sequence
Sequence length 330
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
KEGG
  
Reactome
  Complement and coagulation cascades   Regulation of Complement cascade
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814
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, rs121964914, rs121964915, rs121918667, rs33972593, rs117905900, rs121909748, rs460897, rs796052136, rs121913055, rs796052137, rs121913060, rs121913063, rs1558056827, rs1255421232, rs1441937053, rs121909590, rs121909583, rs121909584, rs121909586, rs460184, rs104886189, rs312262694, rs312262697, rs312262698, rs312262696, rs138924661, rs869312973, rs886039869, rs886039868, rs886043418, rs1057516191, rs1131690796, rs1553273733, rs1553251787, rs777787526, rs769742294, rs775015499, rs1555599211, rs1558162157, rs1600410451, rs368615806, rs1573026975, rs1573087200, rs1571588257, rs147972030, rs1906529223, rs749415630, rs1573076111, rs1300996807, rs1571616755, rs1571617647, rs1579173999, rs1599510478
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs3737787, rs2073658, rs1566946168, rs1064797075
Unknown
Disease name Disease term dbSNP ID References
C3 glomerulonephritis C3 glomerulonephritis
C3 glomerulopathy CFHR5 DEFICIENCY, C3 glomerulopathy rs318240755, rs368209619, rs140215003, rs9427662, rs34533956, rs57960694, rs565457964, rs375481393, rs201084185, rs16840956, rs61745675, rs147791058, rs147488267, rs7532068, rs114023763, rs140691305, rs139017763, rs35662416, rs751010317, rs185709089, rs772780646, rs771972507, rs12097550, rs143140599, rs41306229, rs141358257, rs556270179, rs550747814 23728178, 27458560, 17367211
Dense deposit disease Dense deposit disease
Dysphasia Dysphasia

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