CFHR1

Complement factor H-related protein 1 is a protein that in humans is encoded by the CFHR1 gene.[5][6][7]

CFHR1
Available structures PDB Human UniProt search: PDBe RCSB List of PDB id codes 3ZD2, 4MUC
Identifiers
Aliases	CFHR1, CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2, complement factor H related 1
External IDs	OMIM: 134371 MGI: 2138169 HomoloGene: 55632 GeneCards: CFHR1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q31.3 Start 196,819,757 bp[1] End 196,832,189 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 F Start 139,547,053 bp[2] End 139,560,272 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding • protein homodimerization activity • protein heterodimerization activity Cellular component • extracellular exosome • blood microparticle • extracellular • extracellular region • macromolecular complex Biological process • complement activation • regulation of complement activation • negative regulation of protein binding • positive regulation of cytolysis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3078	50702
Ensembl	ENSG00000244414	ENSMUSG00000057037
UniProt	Q03591	n/a
RefSeq (mRNA)	NM_002113	NM_015780
RefSeq (protein)	NP_002104 NP_001366235 NP_001366236 NP_001366237 NP_001366238 NP_001366239 NP_001366240 NP_001366241	n/a
Location (UCSC)	Chr 1: 196.82 – 196.83 Mb	Chr 1: 139.55 – 139.56 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

References

1. GRCh38: Ensembl release 89: ENSG00000244414 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000057037 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Skerka C, Horstmann RD, Zipfel PF (Jul 1991). "Molecular cloning of a human serum protein structurally related to complement factor H". J Biol Chem. 266 (18): 12015–20. PMID 1711047.
6. Estaller C, Koistinen V, Schwaeble W, Dierich MP, Weiss EH (May 1991). "Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule". J Immunol. 146 (9): 3190–6. PMID 1826708.
7. "Entrez Gene: CFHR1 complement factor H-related 1".

Further reading

• Zipfel PF, Skerka C (1994). "Complement factor H and related proteins: an expanding family of complement-regulatory proteins?". Immunol. Today. 15 (3): 121–6. doi:10.1016/0167-5699(94)90155-4. PMID 8172644.
• Zipfel PF, Jokiranta TS, Hellwage J, et al. (1999). "The factor H protein family". Immunopharmacology. 42 (1–3): 53–60. doi:10.1016/S0162-3109(99)00015-6. PMID 10408366.
• Timmann C, Leippe M, Horstmann RD (1991). "Two major serum components antigenically related to complement factor H are different glycosylation forms of a single protein with no factor H-like complement regulatory functions". J. Immunol. 146 (4): 1265–70. PMID 1825108.
• Park CT, Wright SD (1996). "Plasma lipopolysaccharide-binding protein is found associated with a particle containing apolipoprotein A-I, phospholipid, and factor H-related proteins". J. Biol. Chem. 271 (30): 18054–60. doi:10.1074/jbc.271.30.18054. PMID 8663389.
• Díaz-Guillén MA, Rodríguez de Córdoba S, Heine-Suñer D (1999). "A radiation hybrid map of complement factor H and factor H-related genes". Immunogenetics. 49 (6): 549–52. doi:10.1007/s002510050534. PMID 10380701.
• Male DA, Ormsby RJ, Ranganathan S, et al. (2000). "Complement factor H: sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes". Mol. Immunol. 37 (1–2): 41–52. doi:10.1016/S0161-5890(00)00024-9. PMID 10781834.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Pérez-Caballero D, García-Laorden I, Cortés G, et al. (2005). "Interaction between complement regulators and Streptococcus pyogenes: binding of C4b-binding protein and factor H/factor H-like protein 1 to M18 strains involves two different cell surface molecules". J. Immunol. 173 (11): 6899–904. doi:10.4049/jimmunol.173.11.6899. PMID 15557185.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• McDowell JV, Lankford J, Stamm L, et al. (2005). "Demonstration of factor H-like protein 1 binding to Treponema denticola, a pathogen associated with periodontal disease in humans". Infect. Immun. 73 (11): 7126–32. doi:10.1128/IAI.73.11.7126-7132.2005. PMC 1273895. PMID 16239506.
• Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC 1850943. PMID 16335952.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.
• Zipfel PF, Edey M, Heinen S, et al. (2007). "Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome". PLoS Genet. 3 (3): e41. doi:10.1371/journal.pgen.0030041. PMC 1828695. PMID 17367211.
• Haupt K, Kraiczy P, Wallich R, et al. (2007). "Binding of human factor H-related protein 1 to serum-resistant Borrelia burgdorferi is mediated by borrelial complement regulator-acquiring surface proteins". J. Infect. Dis. 196 (1): 124–33. doi:10.1086/518509. PMID 17538892.

External links

• Human CFHR1 genome location and CFHR1 gene details page in the UCSC Genome Browser.
• GeneReviews/NCBI/NIH/UW entry on Atypical Hemolytic-Uremic Syndrome
• OMIM entries on Atypical Hemolytic-Uremic Syndrome