Homo sapiens Gene: CFH
Summary
InnateDB Gene IDBG-105504.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFH
Gene Name complement factor H
Synonyms AHUS1; AMBP1; ARMD4; ARMS1; CFHL3; FH; FHL1; HF; HF1; HF2; HUS;
Species Homo sapiens
Ensembl Gene ENSG00000000971
Encoded Proteins
complement factor H
complement factor H
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
CFH is a major regulatory protein that down-regulates alternative complement activation.
CFH, a complement regulatory factor, interacts with host cell surfaces as well as C3d part of C3b and plays a major in the distinguishing host from non-host surfaces during the alternative activated complement pathway.
InnateDB Annotation from Orthologs
Summary
[Mus musculus] Cfh, a complement regulatory factor, interacts with host cell surfaces as well as C3d part of C3b and plays a major in the distinguishing host from non-host surfaces during the alternatively activated complement pathway.
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:196651878-196747504
Strand Forward strand
Band q31.3
Transcripts
ENST00000367429 ENSP00000356399
ENST00000359637 ENSP00000352658
ENST00000496761
ENST00000466229
ENST00000470918
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 20 [view]
Protein-Protein 16 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 2 [view]
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0043395 heparan sulfate proteoglycan binding
Biological Process
GO:0006956 complement activation
GO:0006957 complement activation, alternative pathway
GO:0030449 regulation of complement activation
GO:0045087 innate immune response (InnateDB)
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0072562 blood microparticle
Orthologs
Species
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
Low
Tentative data, uncurated. RBBH derived.
Pathways
NETPATH
REACTOME
Innate Immune System pathway
Immune System pathway
Regulation of Complement cascade pathway
Complement cascade pathway
KEGG
Complement and coagulation cascades pathway
Staphylococcus aureus infection pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P08603
TrEMBL A0A024R962
UniProt Splice Variant
Entrez Gene 3075
UniGene Hs.363396
RefSeq NM_000186 XM_006711283 NM_001014975
HUGO HGNC:4883
OMIM 134370
CCDS CCDS1385
HPRD 00601
IMGT
EMBL AL049744 BC037285 BC110643 BC142699 CH471067 DQ233256 M12383 M65294 U56979 X04697 X07523 Y00716 Z29665
GenPept AAA35948 AAA52013 AAB01987 AAH37285 AAI10644 AAI42700 ABB02180 CAA30403 CAA68704 CAA82763 CAB41739 CAI19672 EAW91260 EAW91261
RNA Seq Atlas 3075