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Gene : CFHR1 Homo sapiens

Name  ? complement factor H related 1 Cytological Location  1q31.3
Brief Description  complement factor H related 1
Description  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]
  • synonyms:
  • H36,
  • FHR-1,
  • CFHL1P,
  • CFHL1P,
  • CFHR1P,
  • HFL2,
  • H36-2,
  • HFL1,
  • HGNC:4888,
  • CFHL1,
  • H36-1,
  • H36-2,
  • NM_002113,
  • CFHL,
  • OTTHUMG00000036276,
  • FHR1,
  • CFHL1,
  • FHR1,
  • complement factor H-related 1 pseudogene,
  • H factor (complement)-like 2,
  • H factor (complement)-like 1,
  • CFHR1P,
  • CFHR1,
  • M65292,
  • CFHL,
  • H36-1,
  • uc001gtn.4,
  • complement factor H-related 1,
  • HFL1,
  • HFL2
  • identifiers:
  • 3078,
  • ENSG00000244414,
  • CFHR1

Genome feature

Region: gene ? Length: 12459  
Location: 1:196819731-196832189 Cyto location: 1q31.3


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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Proteins

Gene --> Proteins.

SNPs

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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

3740 SN Ps

5 Cross References

17 Data Sets

12 Homologues

0 Located Features

97 Rna Seq Results