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)
End	196,832,189 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	139,488,010 bp
RNA expression pattern
	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
	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
	3078
	50702
	ENSG00000244414
	ENSMUSG00000057037
	Q03591
	n/a
	NM_002113
	NM_015780
NP_002104; NP_001366235; NP_001366236; NP_001366237; NP_001366238;
	NP_001366239; NP_001366240; NP_001366241
	n/a
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000244414 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000057037 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: CFHR1 complement factor H-related 1".

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. 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.{{cite journal}}: CS1 maint: unflagged free DOI (link)
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

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000244414 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid1711047-5] 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.

[pmid1826708-6] 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.

[entrez-7] "Entrez Gene: CFHR1 complement factor H-related 1".

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[2]

[3]

[4]

[5]

[6]

[7]

References

Further reading

External links