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Protein

Complement factor H

Gene

CFH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.

Caution

According to a report, Asn-217 is not glycosylated (PubMed:17591618). Another study observed glycosylation at this position (PubMed:19139490).2 Publications

GO - Molecular functioni

  • heparan sulfate proteoglycan binding Source: BHF-UCL
  • heparin binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Biological processComplement alternate pathway, Host-virus interaction, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiR-HSA-977606 Regulation of Complement cascade
SIGNORiP08603

Names & Taxonomyi

Protein namesi
Recommended name:
Complement factor H
Alternative name(s):
H factor 1
Gene namesi
Name:CFH
Synonyms:HF, HF1, HF2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000000971.15
HGNCiHGNC:4883 CFH
MIMi134370 gene
neXtProtiNX_P08603

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Basal laminar drusen (BLD)1 Publication
The gene represented in this entry is involved in disease pathogenesis.
Disease descriptionDrusen 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.
See also OMIM:126700
Complement factor H deficiency (CFHD)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609814
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031978127R → L in CFHD; with membranoproliferative glomerulonephritis. 1 Publication1
Natural variantiVAR_031979224Missing in CFHD; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation. 1 Publication1
Natural variantiVAR_031981431C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication1
Natural variantiVAR_019405536C → R in CFHD. 1 Publication1
Natural variantiVAR_031982673C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication1
Natural variantiVAR_019406959C → Y in CFHD; variant confirmed at protein level. 2 Publications1
Natural variantiVAR_0258731076Q → E in CFHD. 2 Publications1
Natural variantiVAR_0258741119D → G in CFHD. 2 Publications1
Natural variantiVAR_0258811184T → R in CFHD. 2 Publications1
Natural variantiVAR_0258871215R → Q in CFHD. 2 Publications1
Hemolytic uremic syndrome atypical 1 (AHUS1)8 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
Disease descriptionAn 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.
See also OMIM:235400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02586478R → G in AHUS1. 1 Publication1
Natural variantiVAR_063648325C → Y in AHUS1. 1 Publication1
Natural variantiVAR_031980400Q → K in AHUS1. 1 Publication1
Natural variantiVAR_063649609V → I in AHUS1. 1 Publication1
Natural variantiVAR_025865630C → W in AHUS1. 1 Publication1
Natural variantiVAR_031983673C → Y in AHUS1. 1 Publication1
Natural variantiVAR_025866850E → K in AHUS1; variant confirmed at protein level. 2 Publications1
Natural variantiVAR_031984893H → R in AHUS1. 1 Publication1
Natural variantiVAR_031985915C → S in AHUS1. 1 Publication1
Natural variantiVAR_025867950Q → H in AHUS1. 1 PublicationCorresponds to variant dbSNP:rs149474608EnsemblClinVar.1
Natural variantiVAR_025868951Y → H in AHUS1. 1 Publication1
Natural variantiVAR_025869956T → M in AHUS1. 2 PublicationsCorresponds to variant dbSNP:rs145975787EnsemblClinVar.1
Natural variantiVAR_025870978W → C in AHUS1. 1 Publication1
Natural variantiVAR_0258711021Y → F in AHUS1. 1 Publication1
Natural variantiVAR_0258721043C → R in AHUS1. 1 Publication1
Natural variantiVAR_0258751134V → G in AHUS1. 1 Publication1
Natural variantiVAR_0258761142Y → D in AHUS1. 1 Publication1
Natural variantiVAR_0258771157W → R in AHUS1. 1 Publication1
Natural variantiVAR_0258781163C → W in AHUS1. 1 Publication1
Natural variantiVAR_0636501169I → L in AHUS1. 1 Publication1
Natural variantiVAR_0636511183W → C in AHUS1. 1 Publication1
Natural variantiVAR_0258791183W → L in AHUS1. 3 Publications1
Natural variantiVAR_0258801183W → R in AHUS1. 2 Publications1
Natural variantiVAR_0194071189L → R in AHUS1. 2 Publications1
Natural variantiVAR_0194081191S → L in AHUS1. 2 PublicationsCorresponds to variant dbSNP:rs460897EnsemblClinVar.1
Natural variantiVAR_0258821194G → D in AHUS1. 1 Publication1
Natural variantiVAR_0258831197V → A in AHUS1. 2 PublicationsCorresponds to variant dbSNP:rs460184EnsemblClinVar.1
Natural variantiVAR_0258841198E → A in AHUS1. 1 Publication1
Natural variantiVAR_0319861199F → S in AHUS1. 1 Publication1
Natural variantiVAR_0258861215R → G in AHUS1. 2 Publications1
Natural variantiVAR_0194091225 – 1231YPTCAKR → FQS in AHUS1. 1 Publication7
Natural variantiVAR_0258881226P → S in AHUS1; atypical. 1 Publication1
Macular degeneration, age-related, 4 (ARMD4)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610698

Keywords - Diseasei

Age-related macular degeneration, Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

DisGeNETi3075
GeneReviewsiCFH
MalaCardsiCFH
MIMi126700 phenotype
235400 phenotype
609814 phenotype
610698 phenotype
Orphaneti93579 Atypical hemolytic-uremic syndrome with H factor anomaly
244275 De novo thrombotic microangiopathy after kidney transplantation
93571 Dense deposit disease
75376 Familial drusen
244242 HELLP syndrome
200421 Immunodeficiency with factor H anomaly
329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA29261

Chemistry databases

ChEMBLiCHEMBL4629

Polymorphism and mutation databases

BioMutaiCFH
DMDMi158517847

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 181 PublicationAdd BLAST18
ChainiPRO_000000589419 – 1231Complement factor HAdd BLAST1213

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi21 ↔ 66PROSITE-ProRule annotation
Disulfide bondi52 ↔ 80PROSITE-ProRule annotation
Disulfide bondi85 ↔ 129PROSITE-ProRule annotation
Disulfide bondi114 ↔ 141PROSITE-ProRule annotation
Disulfide bondi146 ↔ 192PROSITE-ProRule annotation
Disulfide bondi178 ↔ 205PROSITE-ProRule annotation
Disulfide bondi210 ↔ 251PROSITE-ProRule annotation
Glycosylationi217N-linked (GlcNAc...) (complex) asparagine1 Publication1
Disulfide bondi237 ↔ 262PROSITE-ProRule annotation
Disulfide bondi267 ↔ 309PROSITE-ProRule annotation
Disulfide bondi294 ↔ 320PROSITE-ProRule annotation
Disulfide bondi325 ↔ 374PROSITE-ProRule annotation
Disulfide bondi357 ↔ 385PROSITE-ProRule annotation
Disulfide bondi389 ↔ 431PROSITE-ProRule annotation
Disulfide bondi416 ↔ 442PROSITE-ProRule annotation
Disulfide bondi448 ↔ 494PROSITE-ProRule annotation
Disulfide bondi477 ↔ 505PROSITE-ProRule annotation
Disulfide bondi509 ↔ 553PROSITE-ProRule annotation
Glycosylationi529N-linked (GlcNAc...) asparagine4 Publications1
Disulfide bondi536 ↔ 564PROSITE-ProRule annotation
Disulfide bondi569 ↔ 611PROSITE-ProRule annotation
Disulfide bondi597 ↔ 623PROSITE-ProRule annotation
Disulfide bondi630 ↔ 673PROSITE-ProRule annotation
Disulfide bondi659 ↔ 684PROSITE-ProRule annotation
Disulfide bondi691 ↔ 733PROSITE-ProRule annotation
Glycosylationi718N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi719 ↔ 744PROSITE-ProRule annotation
Disulfide bondi753 ↔ 792PROSITE-ProRule annotation
Disulfide bondi781 ↔ 803PROSITE-ProRule annotation
Glycosylationi802N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi811 ↔ 853PROSITE-ProRule annotation
Glycosylationi822N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi839 ↔ 864PROSITE-ProRule annotation
Disulfide bondi870 ↔ 915PROSITE-ProRule annotation
Glycosylationi882N-linked (GlcNAc...) (complex) asparagine5 Publications1
Disulfide bondi901 ↔ 926PROSITE-ProRule annotation
Glycosylationi911N-linked (GlcNAc...) (complex) asparagine4 Publications1
Disulfide bondi931 ↔ 973PROSITE-ProRule annotation
Disulfide bondi959 ↔ 984PROSITE-ProRule annotation
Disulfide bondi989 ↔ 1032PROSITE-ProRule annotation
Disulfide bondi1018 ↔ 1043PROSITE-ProRule annotation
Glycosylationi1029N-linked (GlcNAc...) (complex) asparagine3 Publications1
Disulfide bondi1048 ↔ 1091PROSITE-ProRule annotation
Disulfide bondi1077 ↔ 1102PROSITE-ProRule annotation
Glycosylationi1095N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi1109 ↔ 1152PROSITE-ProRule annotation
Disulfide bondi1138 ↔ 1163PROSITE-ProRule annotation
Disulfide bondi1167 ↔ 1218PROSITE-ProRule annotation
Disulfide bondi1201 ↔ 1228PROSITE-ProRule annotation

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP08603
MaxQBiP08603
PaxDbiP08603
PeptideAtlasiP08603
PRIDEiP08603
ProteomicsDBi52135
52136 [P08603-2]

PTM databases

CarbonylDBiP08603
GlyConnecti722
iPTMnetiP08603
PhosphoSitePlusiP08603

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiENSG00000000971 Expressed in 206 organ(s), highest expression level in liver
ExpressionAtlasiP08603 baseline and differential
GenevisibleiP08603 HS

Organism-specific databases

HPAiCAB016385
CAB016769
HPA038922
HPA049176
HPA053326

Interactioni

Subunit structurei

(Microbial infection) Interacts with West nile virus non-structural protein 1 (NS1); this interaction leads to the degradation of C3.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109324, 18 interactors
DIPiDIP-38303N
IntActiP08603, 20 interactors
STRINGi9606.ENSP00000356399

Chemistry databases

BindingDBiP08603

Structurei

Secondary structure

11231
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP08603
SMRiP08603
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08603

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini19 – 82Sushi 1PROSITE-ProRule annotationAdd BLAST64
Domaini83 – 143Sushi 2PROSITE-ProRule annotationAdd BLAST61
Domaini144 – 207Sushi 3PROSITE-ProRule annotationAdd BLAST64
Domaini208 – 264Sushi 4PROSITE-ProRule annotationAdd BLAST57
Domaini265 – 322Sushi 5PROSITE-ProRule annotationAdd BLAST58
Domaini324 – 386Sushi 6PROSITE-ProRule annotationAdd BLAST63
Domaini387 – 444Sushi 7PROSITE-ProRule annotationAdd BLAST58
Domaini446 – 507Sushi 8PROSITE-ProRule annotationAdd BLAST62
Domaini515 – 566Sushi 9PROSITE-ProRule annotationAdd BLAST52
Domaini567 – 625Sushi 10PROSITE-ProRule annotationAdd BLAST59
Domaini628 – 686Sushi 11PROSITE-ProRule annotationAdd BLAST59
Domaini689 – 746Sushi 12PROSITE-ProRule annotationAdd BLAST58
Domaini751 – 805Sushi 13PROSITE-ProRule annotationAdd BLAST55
Domaini809 – 866Sushi 14PROSITE-ProRule annotationAdd BLAST58
Domaini868 – 928Sushi 15PROSITE-ProRule annotationAdd BLAST61
Domaini929 – 986Sushi 16PROSITE-ProRule annotationAdd BLAST58
Domaini987 – 1045Sushi 17PROSITE-ProRule annotationAdd BLAST59
Domaini1046 – 1104Sushi 18PROSITE-ProRule annotationAdd BLAST59
Domaini1107 – 1165Sushi 19PROSITE-ProRule annotationAdd BLAST59
Domaini1170 – 1230Sushi 20PROSITE-ProRule annotationAdd BLAST61

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiENOG410IVQ9 Eukaryota
ENOG410YBAR LUCA
HOVERGENiHBG005665
InParanoidiP08603
KOiK04004
OrthoDBiEOG091G00V4
PhylomeDBiP08603
TreeFamiTF326157

Family and domain databases

CDDicd00033 CCP, 16 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 19 hits
SMARTiView protein in SMART
SM00032 CCP, 20 hits
SUPFAMiSSF57535 SSF57535, 18 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 19 hits

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P08603-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY
60 70 80 90 100
KCRPGYRSLG NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG
110 120 130 140 150
GNVFEYGVKA VYTCNEGYQL LGEINYRECD TDGWTNDIPI CEVVKCLPVT
160 170 180 190 200
APENGKIVSS AMEPDREYHF GQAVRFVCNS GYKIEGDEEM HCSDDGFWSK
210 220 230 240 250
EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG YEYSERGDAV
260 270 280 290 300
CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
310 320 330 340 350
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG
360 370 380 390 400
KYYSYYCDEH FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ
410 420 430 440 450
NYGRKFVQGK SIDVACHPGY ALPKAQTTVT CMENGWSPTP RCIRVKTCSK
460 470 480 490 500
SSIDIENGFI SESQYTYALK EKAKYQCKLG YVTADGETSG SITCGKDGWS
510 520 530 540 550
AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY ESNTGSTTGS
560 570 580 590 600
IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
610 620 630 640 650
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG
660 670 680 690 700
HSEVVEYYCN PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG
710 720 730 740 750
WAQLSSPPYY YGDSVEFNCS ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL
760 770 780 790 800
KKCKSSNLII LEEHLKNKKE FDHNSNIRYR CRGKEGWIHT VCINGRWDPE
810 820 830 840 850
VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ ENYLIQEGEE
860 870 880 890 900
ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
910 920 930 940 950
CEGGFRISEE NETTCYMGKW SSPPQCEGLP CKSPPEISHG VVAHMSDSYQ
960 970 980 990 1000
YGEEVTYKCF EGFGIDGPAI AKCLGEKWSH PPSCIKTDCL SLPSFENAIP
1010 1020 1030 1040 1050
MGEKKDVYKA GEQVTYTCAT YYKMDGASNV TCINSRWTGR PTCRDTSCVN
1060 1070 1080 1090 1100
PPTVQNAYIV SRQMSKYPSG ERVRYQCRSP YEMFGDEEVM CLNGNWTEPP
1110 1120 1130 1140 1150
QCKDSTGKCG PPPPIDNGDI TSFPLSVYAP ASSVEYQCQN LYQLEGNKRI
1160 1170 1180 1190 1200
TCRNGQWSEP PKCLHPCVIS REIMENYNIA LRWTAKQKLY SRTGESVEFV
1210 1220 1230
CKRGYRLSSR SHTLRTTCWD GKLEYPTCAK R
Length:1,231
Mass (Da):139,096
Last modified:September 11, 2007 - v4
Checksum:i3C26D62A2BF9BFEE
GO
Isoform 2 (identifier: P08603-2) [UniParc]FASTAAdd to basket
Also known as: FHL-1

The sequence of this isoform differs from the canonical sequence as follows:
     446-449: KTCS → SFTL
     450-1231: Missing.

Show »
Length:449
Mass (Da):51,034
Checksum:iC2AAD47F155343E3
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0D9SG88A0A0D9SG88_HUMAN
Complement factor H
CFH
449Annotation score:
Q5TFM2Q5TFM2_HUMAN
Complement factor H
CFH
385Annotation score:

Sequence cautioni

The sequence CAB41739 differs from that shown. Reason: Frameshift at position 341.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21C → Q AA sequence (PubMed:6215918).Curated1
Sequence conflicti30T → V AA sequence (PubMed:6215918).Curated1
Sequence conflicti34T → Q AA sequence (PubMed:6215918).Curated1
Sequence conflicti53 – 54RP → IL in CAB41739 (PubMed:2946589).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02383662V → I Polymorphism; confirmed at protein level. 4 PublicationsCorresponds to variant dbSNP:rs800292EnsemblClinVar.1
Natural variantiVAR_02586478R → G in AHUS1. 1 Publication1
Natural variantiVAR_031978127R → L in CFHD; with membranoproliferative glomerulonephritis. 1 Publication1
Natural variantiVAR_031979224Missing in CFHD; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation. 1 Publication1
Natural variantiVAR_063648325C → Y in AHUS1. 1 Publication1
Natural variantiVAR_031980400Q → K in AHUS1. 1 Publication1
Natural variantiVAR_001979402Y → H Polymorphism associated with ARMD4. 5 PublicationsCorresponds to variant dbSNP:rs1061170Ensembl.1
Natural variantiVAR_031981431C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication1
Natural variantiVAR_043892493T → R1 PublicationCorresponds to variant dbSNP:rs1061171Ensembl.1
Natural variantiVAR_019405536C → R in CFHD. 1 Publication1
Natural variantiVAR_025092551I → T1 PublicationCorresponds to variant dbSNP:rs35453854EnsemblClinVar.1
Natural variantiVAR_043893567R → G Associated with basal laminar drusen. 1 Publication1
Natural variantiVAR_063649609V → I in AHUS1. 1 Publication1
Natural variantiVAR_025865630C → W in AHUS1. 1 Publication1
Natural variantiVAR_031982673C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication1
Natural variantiVAR_031983673C → Y in AHUS1. 1 Publication1
Natural variantiVAR_025866850E → K in AHUS1; variant confirmed at protein level. 2 Publications1
Natural variantiVAR_025093890S → I1 PublicationCorresponds to variant dbSNP:rs515299EnsemblClinVar.1
Natural variantiVAR_031984893H → R in AHUS1. 1 Publication1
Natural variantiVAR_031985915C → S in AHUS1. 1 Publication1
Natural variantiVAR_020261936E → D Polymorphism associated with hemolytic uremic syndrome and basal laminar drusen. 4 PublicationsCorresponds to variant dbSNP:rs1065489EnsemblClinVar.1
Natural variantiVAR_025867950Q → H in AHUS1. 1 PublicationCorresponds to variant dbSNP:rs149474608EnsemblClinVar.1
Natural variantiVAR_025868951Y → H in AHUS1. 1 Publication1
Natural variantiVAR_025869956T → M in AHUS1. 2 PublicationsCorresponds to variant dbSNP:rs145975787EnsemblClinVar.1
Natural variantiVAR_019406959C → Y in CFHD; variant confirmed at protein level. 2 Publications1
Natural variantiVAR_025870978W → C in AHUS1. 1 Publication1
Natural variantiVAR_055683997N → T. Corresponds to variant dbSNP:rs17575212Ensembl.1
Natural variantiVAR_0250941007V → I1 Publication1
Natural variantiVAR_0438941007V → L. Corresponds to variant dbSNP:rs534399EnsemblClinVar.1
Natural variantiVAR_0556841010A → T. Corresponds to variant dbSNP:rs11539862EnsemblClinVar.1
Natural variantiVAR_0250951017T → I1 PublicationCorresponds to variant dbSNP:rs34362004EnsemblClinVar.1
Natural variantiVAR_0258711021Y → F in AHUS1. 1 Publication1
Natural variantiVAR_0258721043C → R in AHUS1. 1 Publication1
Natural variantiVAR_0250961050N → Y Polymorphism associated with basal laminar drusen. 2 PublicationsCorresponds to variant dbSNP:rs35274867EnsemblClinVar.1
Natural variantiVAR_0250971059I → T1 PublicationCorresponds to variant dbSNP:rs35343172EnsemblClinVar.1
Natural variantiVAR_0258731076Q → E in CFHD. 2 Publications1
Natural variantiVAR_0438951078R → S Associated with basal laminar drusen. 1 Publication1
Natural variantiVAR_0258741119D → G in CFHD. 2 Publications1
Natural variantiVAR_0258751134V → G in AHUS1. 1 Publication1
Natural variantiVAR_0258761142Y → D in AHUS1. 1 Publication1
Natural variantiVAR_0438961143Q → E Polymorphism; confirmed at protein level. 1 PublicationCorresponds to variant dbSNP:rs15809EnsemblClinVar.1
Natural variantiVAR_0258771157W → R in AHUS1. 1 Publication1
Natural variantiVAR_0258781163C → W in AHUS1. 1 Publication1
Natural variantiVAR_0636501169I → L in AHUS1. 1 Publication1
Natural variantiVAR_0636511183W → C in AHUS1. 1 Publication1
Natural variantiVAR_0258791183W → L in AHUS1. 3 Publications1
Natural variantiVAR_0258801183W → R in AHUS1. 2 Publications1
Natural variantiVAR_0258811184T → R in CFHD. 2 Publications1
Natural variantiVAR_0194071189L → R in AHUS1. 2 Publications1
Natural variantiVAR_0194081191S → L in AHUS1. 2 PublicationsCorresponds to variant dbSNP:rs460897EnsemblClinVar.1
Natural variantiVAR_0258821194G → D in AHUS1. 1 Publication1
Natural variantiVAR_0258831197V → A in AHUS1. 2 PublicationsCorresponds to variant dbSNP:rs460184EnsemblClinVar.1
Natural variantiVAR_0258841198E → A in AHUS1. 1 Publication1
Natural variantiVAR_0319861199F → S in AHUS1. 1 Publication1
Natural variantiVAR_0258851210R → C in CFHD and ARMD4; rare penetrant mutation that confers high risk of age-related macular degeneration. 3 Publications1
Natural variantiVAR_0258861215R → G in AHUS1. 2 Publications1
Natural variantiVAR_0258871215R → Q in CFHD. 2 Publications1
Natural variantiVAR_0194091225 – 1231YPTCAKR → FQS in AHUS1. 1 Publication7
Natural variantiVAR_0258881226P → S in AHUS1; atypical. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001190446 – 449KTCS → SFTL in isoform 2. 2 Publications4
Alternative sequenceiVSP_001191450 – 1231Missing in isoform 2. 2 PublicationsAdd BLAST782

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00716 mRNA Translation: CAA68704.1
DQ233256 Genomic DNA Translation: ABB02180.1
AL049744 Genomic DNA No translation available.
BC037285 mRNA Translation: AAH37285.1
BC110643 mRNA Translation: AAI10644.1
BC142699 mRNA Translation: AAI42700.1
X04697 mRNA Translation: CAB41739.1 Frameshift.
X07523 mRNA Translation: CAA30403.1
M12383 mRNA Translation: AAA52013.1
M65294 mRNA Translation: AAA35948.1
U56979 Genomic DNA Translation: AAB01987.1
Z29665 Genomic DNA Translation: CAA82763.1
CCDSiCCDS1385.1 [P08603-1]
CCDS53452.1 [P08603-2]
PIRiS00254 NBHUH
S03013 NBHUHS
RefSeqiNP_000177.2, NM_000186.3
UniGeneiHs.363396

Genome annotation databases

EnsembliENST00000367429; ENSP00000356399; ENSG00000000971
GeneIDi3075
KEGGihsa:3075
UCSCiuc001gtj.4 human [P08603-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

CFHbase

CFH mutation db

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00716 mRNA Translation: CAA68704.1
DQ233256 Genomic DNA Translation: ABB02180.1
AL049744 Genomic DNA No translation available.
BC037285 mRNA Translation: AAH37285.1
BC110643 mRNA Translation: AAI10644.1
BC142699 mRNA Translation: AAI42700.1
X04697 mRNA Translation: CAB41739.1 Frameshift.
X07523 mRNA Translation: CAA30403.1
M12383 mRNA Translation: AAA52013.1
M65294 mRNA Translation: AAA35948.1
U56979 Genomic DNA Translation: AAB01987.1
Z29665 Genomic DNA Translation: CAA82763.1
CCDSiCCDS1385.1 [P08603-1]
CCDS53452.1 [P08603-2]
PIRiS00254 NBHUH
S03013 NBHUHS
RefSeqiNP_000177.2, NM_000186.3
UniGeneiHs.363396

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FHCmodel-A1105-1231[»]
1HAQX-ray-A19-1231[»]
1HCCNMR-A927-985[»]
1HFHNMR-A866-985[»]
1HFINMR-A866-927[»]
1KOVmodel-A321-443[»]
2BZMNMR-A1107-1231[»]
2G7IX-ray1.75A1107-1231[»]
2IC4X-ray-A321-506[»]
2JGWNMR-A386-446[»]
2JGXNMR-A386-446[»]
2KMSNMR-A690-804[»]
2QFGX-ray-A19-322[»]
2QFHX-ray-A928-1231[»]
2RLPNMR-A20-142[»]
2RLQNMR-A84-206[»]
2UWNX-ray2.35A322-506[»]
2V8EX-ray2.50A322-506[»]
2W80X-ray2.35A/B/E/G321-443[»]
2W81X-ray2.35A/B/E321-443[»]
2WIIX-ray2.70C18-264[»]
2XQWX-ray2.31C1103-1231[»]
3GAUX-ray-A19-1231[»]
3GAVX-ray-A19-1231[»]
3GAWX-ray-A19-1231[»]
3KXVX-ray2.00A1103-1231[»]
3KZJX-ray1.65A1103-1231[»]
3OXUX-ray2.10D/E/F1107-1231[»]
3R62X-ray1.52A/B1107-1231[»]
3RJ3X-ray2.35D/E/F1107-1231[»]
3SW0X-ray1.80X1046-1231[»]
4AYDX-ray2.40A/B/E321-443[»]
4AYEX-ray2.80A/B/E321-443[»]
4AYIX-ray2.31A/E321-443[»]
4AYMX-ray3.00A/B/E/F321-443[»]
4B2RNMR-A566-687[»]
4B2SNMR-A627-747[»]
4J38X-ray2.83B1103-1231[»]
4K12X-ray1.08A508-567[»]
4ONTX-ray2.15D/E/F1107-1231[»]
4ZH1X-ray2.24D/E/F1107-1231[»]
5NBQX-ray3.18D/E/F1104-1230[»]
5O32X-ray4.21C/G19-387[»]
5O35X-ray4.20C19-388[»]
5WTBX-ray3.30E/F/G/H1206-1226[»]
ProteinModelPortaliP08603
SMRiP08603
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109324, 18 interactors
DIPiDIP-38303N
IntActiP08603, 20 interactors
STRINGi9606.ENSP00000356399

Chemistry databases

BindingDBiP08603
ChEMBLiCHEMBL4629

PTM databases

CarbonylDBiP08603
GlyConnecti722
iPTMnetiP08603
PhosphoSitePlusiP08603

Polymorphism and mutation databases

BioMutaiCFH
DMDMi158517847

Proteomic databases

EPDiP08603
MaxQBiP08603
PaxDbiP08603
PeptideAtlasiP08603
PRIDEiP08603
ProteomicsDBi52135
52136 [P08603-2]

Protocols and materials databases

DNASUi3075
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000367429; ENSP00000356399; ENSG00000000971
GeneIDi3075
KEGGihsa:3075
UCSCiuc001gtj.4 human [P08603-1]

Organism-specific databases

CTDi3075
DisGeNETi3075
EuPathDBiHostDB:ENSG00000000971.15
GeneCardsiCFH
GeneReviewsiCFH
HGNCiHGNC:4883 CFH
HPAiCAB016385
CAB016769
HPA038922
HPA049176
HPA053326
MalaCardsiCFH
MIMi126700 phenotype
134370 gene
235400 phenotype
609814 phenotype
610698 phenotype
neXtProtiNX_P08603
Orphaneti93579 Atypical hemolytic-uremic syndrome with H factor anomaly
244275 De novo thrombotic microangiopathy after kidney transplantation
93571 Dense deposit disease
75376 Familial drusen
244242 HELLP syndrome
200421 Immunodeficiency with factor H anomaly
329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA29261
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVQ9 Eukaryota
ENOG410YBAR LUCA
HOVERGENiHBG005665
InParanoidiP08603
KOiK04004
OrthoDBiEOG091G00V4
PhylomeDBiP08603
TreeFamiTF326157

Enzyme and pathway databases

ReactomeiR-HSA-977606 Regulation of Complement cascade
SIGNORiP08603

Miscellaneous databases

ChiTaRSiCFH human
EvolutionaryTraceiP08603
GeneWikiiFactor_H
GenomeRNAii3075
PROiPR:P08603
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000000971 Expressed in 206 organ(s), highest expression level in liver
ExpressionAtlasiP08603 baseline and differential
GenevisibleiP08603 HS

Family and domain databases

CDDicd00033 CCP, 16 hits
InterProiView protein in InterPro
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
PfamiView protein in Pfam
PF00084 Sushi, 19 hits
SMARTiView protein in SMART
SM00032 CCP, 20 hits
SUPFAMiSSF57535 SSF57535, 18 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 19 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCFAH_HUMAN
AccessioniPrimary (citable) accession number: P08603
Secondary accession number(s): A5PL14
, P78435, Q14570, Q2TAZ5, Q38G77, Q5TFM3, Q8N708, Q9NU86
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: September 11, 2007
Last modified: November 7, 2018
This is version 221 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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