CFHR1

Protein-coding gene in the species Homo sapiens

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]
Band	1q31.3	End	196,832,189 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 1 (mouse)^[2]

Band	1\|1 F	Start	139,474,791 bp^[2]
Band	1\|1 F	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

^ ^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" (PDF). J Immunol. 146 (9): 3190–6. doi:10.4049/jimmunol.146.9.3190. 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. 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.

PDB gallery

2bzm: SOLUTION STRUCTURE OF THE PRIMARY HOST RECOGNITION REGION OF COMPLEMENT FACTOR H
2g7i: Structure of Human Complement Factor H Carboxyl Terminal Domains 19-20: a Basis for Atypical Hemolytic Uremic Syndrome

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