Homo sapiens Gene: CFHR1
Summary
InnateDB Gene IDBG-409281.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CFHR1
Gene Name complement factor H-related 1
Synonyms CFHL; CFHL1; CFHL1P; CFHR1P; FHR1; H36-1; H36-2; HFL1; HFL2;
Species Homo sapiens
Ensembl Gene ENSG00000244414
Encoded Proteins
complement factor H-related 1
complement factor H-related 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:196819757-196832189
Strand Forward strand
Band q31.3
Transcripts
ENST00000367424 ENSP00000356394
ENST00000320493 ENSP00000314299
ENST00000472961
ENST00000468079
ENST00000480960
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
GO:0006956 complement activation
Cellular Component
GO:0005615 extracellular space
GO:0070062 extracellular vesicular exosome
GO:0072562 blood microparticle
Orthologs
No orthologs found for this gene
Cross-References
SwissProt Q03591
TrEMBL Q6LBM9
UniProt Splice Variant
Entrez Gene 3078
UniGene Hs.575869
RefSeq NM_002113
HUGO HGNC:4888
OMIM 134371
CCDS CCDS1386
HPRD 00602
IMGT
EMBL AK290830 AL049741 BC016755 BC107771 M65292 M65293 X56209 X56210
GenPept AAA35946 AAA35947 AAH16755 AAI07772 BAF83519 CAA39666 CAA39667 CAB53063
RNA Seq Atlas 3078