CFH
entrez
3075
canonical
uniprot
P08603
canonical
ensembl
ENSG00000000971
resolver
ensp
ENSP00000356399
resolver
ensp
ENSP00000487250
resolver
enst
ENST00000367429
resolver
enst
ENST00000630130
resolver
genesymbol
CFH
resolver
genesymbol_syn
HF
resolver
genesymbol_syn
HF1
resolver
genesymbol_syn
HF2
resolver
hgnc
HGNC:4883
resolver
uniprot
A0A0D9SG88
resolver
uniprot
A5PL14
resolver
uniprot
P78435
resolver
uniprot
Q14570
resolver
uniprot
Q2TAZ5
resolver
uniprot
Q38G77
resolver
uniprot
Q5TFM3
resolver
uniprot
Q8N708
resolver
uniprot
Q9NU86
resolver
uniprot_entry
A0A0D9SG88_HUMAN
resolver
uniprot_entry
CFAH_HUMAN
resolver
uniprot_sec
A5PL14
resolver
uniprot_sec
P78435
resolver
uniprot_sec
Q14570
resolver
uniprot_sec
Q2TAZ5
resolver
uniprot_sec
Q38G77
resolver
uniprot_sec
Q5TFM3
resolver
uniprot_sec
Q8N708
resolver
uniprot_sec
Q9NU86
resolver
amino_acid_sequence
MRLLAKIICLMLWAICVAEDCNELPPRRNTEILTGSWSDQTYPEGTQAIYKCRPGYRSLGNVIMVCRKGEWVALNPLRKCQKRPCGHPGDTPFGTFTLTGGNVFEYGVKAVYTCNEGYQLLGEINYRECDTDGWTNDIPICEVVKCLPVTAPENGKIVSSAMEPDREYHFGQAVRFVCNSGYKIEGDEEMHCSDDGFWSKEKPKCVEISCKSPDVINGSPISQKIIYKENERFQYKCNMGYEYSERGDAVCTESGWRPLPSCEEKSCDNPYIPNGDYSPLRIKHRTGDEITYQCRNGFYPATRGNTAKCTSTGWIPAPRCTLKPCDYPDIKHGGLYHENMRRPYFPVAVGKYYSYYCDEHFETPSGSYWDHIHCTQDGWSPAVPCLRKCYFPYLENGYNQNYGRKFVQGKSIDVACHPGYALPKAQTTVTCMENGWSPTPRCIRVKTCSKSSIDIENGFISESQYTYALKEKAKYQCKLGYVTADGETSGSITCGKDGWSAQPTCIKSCDIPVFMNARTKNDFTWFKLNDTLDYECHDGYESNTGSTTGSIVCGYNGWSDLPICYERECELPKIDVHLVPDRKKDQYKVGEVLKFSCKPGFTIVGPNSVQCYHFGLSPDLPICKEQVQSCGPPPELLNGNVKEKTKEEYGHSEVVEYYCNPRFLMKGPNKIQCVDGEWTTLPVCIVEESTCGDIPELEHGWAQLSSPPYYYGDSVEFNCSESFTMIGHRSITCIHGVWTQLPQCVAIDKLKKCKSSNLIILEEHLKNKKEFDHNSNIRYRCRGKEGWIHTVCINGRWDPEVNCSMAQIQLCPPPPQIPNSHNMTTTLNYRDGEKVSVLCQENYLIQEGEEITCKDGRWQSIPLCVEKIPCSQPPQIEHGTINSSRSSQESYAHGTKLSYTCEGGFRISEENETTCYMGKWSSPPQCEGLPCKSPPEISHGVVAHMSDSYQYGEEVTYKCFEGFGIDGPAIAKCLGEKWSHPPSCIKTDCLSLPSFENAIPMGEKKDVYKAGEQVTYTCATYYKMDGASNVTCINSRWTGRPTCRDTSCVNPPTVQNAYIVSRQMSKYPSGERVRYQCRSPYEMFGDEEVMCLNGNWTEPPQCKDSTGKCGPPPPIDNGDITSFPLSVYAPASSVEYQCQNLYQLEGNKRITCRNGQWSEPPKCLHPCVISREIMENYNIALRWTAKQKLYSRTGESVEFVCKRGYRLSSRSHTLRTTCWDGKLEYPTCAKR
uniprot
proteins
disease_involvement
DISEASE: Basal laminar drusen (BLD) [MIM:126700]: Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss. {ECO:0000269|PubMed:18252232}. Note=The gene represented in this entry is involved in disease pathogenesis.; DISEASE: Complement factor H deficiency (CFHD) [MIM:609814]: A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. {ECO:0000269|PubMed:10803850, ECO:0000269|PubMed:11158219, ECO:0000269|PubMed:11170895, ECO:0000269|PubMed:11170896, ECO:0000269|PubMed:12020532, ECO:0000269|PubMed:14978182, ECO:0000269|PubMed:16612335, ECO:0000269|PubMed:9312129}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400]: An atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease. {ECO:0000269|PubMed:10577907, ECO:0000269|PubMed:10762557, ECO:0000269|PubMed:11851332, ECO:0000269|PubMed:12960213, ECO:0000269|PubMed:14583443, ECO:0000269|PubMed:14978182, ECO:0000269|PubMed:16601698, ECO:0000269|PubMed:20513133, ECO:0000269|PubMed:9551389}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.; DISEASE: Macular degeneration, age-related, 4 (ARMD4) [MIM:610698]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:22019782}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Glycoprotein that plays an essential role in maintaining a well-balanced immune response by modulating complement activation. Acts as a soluble inhibitor of complement, where its binding to self markers such as glycan structures prevents complement activation and amplification on cell surfaces (PubMed:21285368, PubMed:21317894, PubMed:25402769). Accelerates the decay of the complement alternative pathway (AP) C3 convertase C3bBb, thus preventing local formation of more C3b, the central player of the complement amplification loop (PubMed:19503104, PubMed:21317894, PubMed:26700768). As a cofactor of the serine protease factor I, CFH also regulates proteolytic degradation of already-deposited C3b (PubMed:18252712, PubMed:23332154, PubMed:28671664). In addition, mediates several cellular responses through interaction with specific receptors. For example, interacts with CR3/ITGAM receptor and thereby mediates the adhesion of human neutrophils to different pathogens. In turn, these pathogens are phagocytosed and destroyed (PubMed:20008295, PubMed:9558116). {ECO:0000269|PubMed:18252712, ECO:0000269|PubMed:19503104, ECO:0000269|PubMed:20008295, ECO:0000269|PubMed:21285368, ECO:0000269|PubMed:21317894, ECO:0000269|PubMed:23332154, ECO:0000269|PubMed:25402769, ECO:0000269|PubMed:26700768, ECO:0000269|PubMed:28671664, ECO:0000269|PubMed:9558116}.; FUNCTION: (Microbial infection) In the mosquito midgut, binds to the surface of parasite P.falciparum gametocytes and protects the parasite from alternative complement pathway-mediated elimination. {ECO:0000269|PubMed:23332154}.
uniprot
proteins
mass_dalton
139096
uniprot
proteins
mutagenesis
MUTAGEN 337; /note="H->A: About 10% loss of heparin-binding."; /evidence="ECO:0000269|PubMed:17893204"; MUTAGEN 341; /note="R->A: About 20% loss of heparin-binding."; /evidence="ECO:0000269|PubMed:17893204"; MUTAGEN 1182; /note="R->A: About 50% loss of C3b binding."; /evidence="ECO:0000269|PubMed:16601698"; MUTAGEN 1186; /note="K->A: About 20% loss of C3b binding."; /evidence="ECO:0000269|PubMed:16601698"; MUTAGEN 1188; /note="K->A: About 50% loss of C3b binding."; /evidence="ECO:0000269|PubMed:16601698
uniprot
proteins
post_translational_modification
PTM: Sulfated on tyrosine residues. {ECO:0000269|PubMed:25136834}.; PTM: According to a report, Asn-217 is not glycosylated (PubMed:17591618). Another study observed glycosylation at this position (PubMed:19139490). {ECO:0000305|PubMed:17591618, ECO:0000305|PubMed:19139490}.
uniprot
proteins
pubmed
10577907
uniprot
proteins
pubmed
10762557
uniprot
proteins
pubmed
10803850
uniprot
proteins
pubmed
11158219
uniprot
proteins
pubmed
11170895
uniprot
proteins
pubmed
11170896
uniprot
proteins
pubmed
11851332
uniprot
proteins
pubmed
12020532
uniprot
proteins
pubmed
12960213
uniprot
proteins
pubmed
14583443
uniprot
proteins
pubmed
14760718
uniprot
proteins
pubmed
14978182
uniprot
proteins
pubmed
1533152
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15761120
uniprot
proteins
pubmed
15761121
uniprot
proteins
pubmed
15761122
uniprot
proteins
pubmed
15870199
uniprot
proteins
pubmed
15895326
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16601698
uniprot
proteins
pubmed
16612335
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17132743
uniprot
proteins
pubmed
17360715
uniprot
proteins
pubmed
17591618
uniprot
proteins
pubmed
17893204
uniprot
proteins
pubmed
18005991
uniprot
proteins
pubmed
18252232
uniprot
proteins
pubmed
18252712
uniprot
proteins
pubmed
1826708
uniprot
proteins
pubmed
1829116
uniprot
proteins
pubmed
19112495
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19225461
uniprot
proteins
pubmed
19503104
uniprot
proteins
pubmed
19505476
uniprot
proteins
pubmed
19835885
uniprot
proteins
pubmed
19838169
uniprot
proteins
pubmed
20008295
uniprot
proteins
pubmed
20378178
uniprot
proteins
pubmed
20513133
uniprot
proteins
pubmed
21285368
uniprot
proteins
pubmed
21317894
uniprot
proteins
pubmed
2139673
uniprot
proteins
pubmed
22019782
uniprot
proteins
pubmed
22028381
uniprot
proteins
pubmed
22389686
uniprot
proteins
pubmed
23017427
uniprot
proteins
pubmed
23133374
uniprot
proteins
pubmed
23204165
uniprot
proteins
pubmed
23332154
uniprot
proteins
pubmed
23658013
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25136834
uniprot
proteins
pubmed
25330773
uniprot
proteins
pubmed
25402769
uniprot
proteins
pubmed
26700768
uniprot
proteins
pubmed
28258151
uniprot
proteins
pubmed
28671664
uniprot
proteins
pubmed
29190743
uniprot
proteins
pubmed
2937845
uniprot
proteins
pubmed
2946589
uniprot
proteins
pubmed
2963625
uniprot
proteins
pubmed
2968404
uniprot
proteins
pubmed
34986357
uniprot
proteins
pubmed
6215918
uniprot
proteins
pubmed
6444659
uniprot
proteins
pubmed
8331663
uniprot
proteins
pubmed
9312129
uniprot
proteins
pubmed
9551389
uniprot
proteins
pubmed
9558116
uniprot
proteins
sequence_length
1231
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted.; SUBCELLULAR LOCATION: Note=(Microbial infection) In the mosquito midgut, localizes to P.falciparum (NF54 strain) macrogamete and young zygote cell membranes. {ECO:0000269|PubMed:23332154}.
uniprot
proteins