CFHR1

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; OMA:CFHR1 - orthologs
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 139,474,791 bp [2] End 139,488,010 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver testicle lymph node gonad spleen tibial nerve human kidney stromal cell of endometrium appendix right hemisphere of cerebellum Top expressed in left lobe of liver gallbladder cardiac muscle tissue of left ventricle interventricular septum extraocular muscle CA3 field perirhinal cortex entorhinal cortex lactiferous gland sciatic nerve More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding protein homodimerization activity protein heterodimerization activity Cellular component extracellular exosome blood microparticle extracellular space extracellular region protein-containing 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: 139.47 – 139.49 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. doi: 10.1016/S0021-9258(18)99058-7 . 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" (PDF). J Immunol. 146 (9): 3190–6. doi: 10.4049/jimmunol.146.9.3190 . 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. doi: 10.4049/jimmunol.146.4.1265 . PMID   1825108. S2CID   37805964.
• 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. S2CID   31776506.
• 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• 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. Bibcode:2006Natur.441..315G. 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