InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-105506

complement factor H

IDBP-105510

complement factor H

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

InnateDB Annotation

Summary

PMID 18190458

CFH is a major regulatory protein that down-regulates alternative complement activation.

PMID 21285368

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

PMID 21285368

[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

ENSMUSG00000026365

View Gene Order

Pathways

NETPATH

REACTOME

REACT_118707

Regulation of Complement cascade pathway

REACT_6802

Innate Immune System pathway

REACT_6900

Immune System pathway

REACT_6932

Complement cascade pathway

KEGG

hsa04610

Complement and coagulation cascades pathway

hsa05150

Staphylococcus aureus infection pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.363396

RefSeq

NM_000186 NM_001014975 XM_006711283

HUGO

OMIM

CCDS

CCDS1385

HPRD

00601

IMGT

EMBL

GenPept

RNA Seq Atlas