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P08603

- CFAH_HUMAN

UniProt

P08603 - CFAH_HUMAN

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Protein

Complement factor H

Gene

CFH

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- 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.

GO - Molecular functioni

  1. heparan sulfate proteoglycan binding Source: BHF-UCL
  2. heparin binding Source: BHF-UCL

GO - Biological processi

  1. complement activation Source: ProtInc
  2. complement activation, alternative pathway Source: UniProtKB-KW
  3. innate immune response Source: Reactome
  4. regulation of complement activation Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Complement alternate pathway, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiREACT_118707. Regulation of Complement cascade.

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:4883. CFH.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. extracellular region Source: Reactome
  3. extracellular space Source: ProtInc
  4. extracellular vesicular exosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The gene represented in this entry is involved in disease pathogenesis.
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.8 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti127 – 1271R → L in CFHD; with membranoproliferative glomerulonephritis. 1 Publication
VAR_031978
Natural varianti224 – 2241Missing in CFHD; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation. 1 Publication
VAR_031979
Natural varianti431 – 4311C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication
VAR_031981
Natural varianti536 – 5361C → R in CFHD. 1 Publication
VAR_019405
Natural varianti673 – 6731C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication
VAR_031982
Natural varianti959 – 9591C → Y in CFHD; variant confirmed at protein level. 2 Publications
VAR_019406
Natural varianti1076 – 10761Q → E in CFHD. 2 Publications
VAR_025873
Natural varianti1119 – 11191D → G in CFHD. 2 Publications
VAR_025874
Natural varianti1184 – 11841T → R in CFHD. 2 Publications
VAR_025881
Natural varianti1210 – 12101R → C in CFHD and ARMD4; rare penetrant mutation that confers high risk of age-related macular degeneration. 3 Publications
VAR_025885
Natural varianti1215 – 12151R → Q in CFHD. 2 Publications
VAR_025887
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.8 Publications
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti78 – 781R → G in AHUS1. 1 Publication
VAR_025864
Natural varianti325 – 3251C → Y in AHUS1. 1 Publication
VAR_063648
Natural varianti400 – 4001Q → K in AHUS1. 1 Publication
VAR_031980
Natural varianti609 – 6091V → I in AHUS1. 1 Publication
VAR_063649
Natural varianti630 – 6301C → W in AHUS1. 1 Publication
VAR_025865
Natural varianti673 – 6731C → Y in AHUS1. 1 Publication
VAR_031983
Natural varianti850 – 8501E → K in AHUS1; variant confirmed at protein level. 2 Publications
VAR_025866
Natural varianti893 – 8931H → R in AHUS1. 1 Publication
VAR_031984
Natural varianti915 – 9151C → S in AHUS1. 1 Publication
VAR_031985
Natural varianti950 – 9501Q → H in AHUS1. 1 Publication
Corresponds to variant rs149474608 [ dbSNP | Ensembl ].
VAR_025867
Natural varianti951 – 9511Y → H in AHUS1. 1 Publication
VAR_025868
Natural varianti956 – 9561T → M in AHUS1. 2 Publications
Corresponds to variant rs145975787 [ dbSNP | Ensembl ].
VAR_025869
Natural varianti978 – 9781W → C in AHUS1. 1 Publication
VAR_025870
Natural varianti1021 – 10211Y → F in AHUS1. 1 Publication
VAR_025871
Natural varianti1043 – 10431C → R in AHUS1. 1 Publication
VAR_025872
Natural varianti1134 – 11341V → G in AHUS1. 1 Publication
VAR_025875
Natural varianti1142 – 11421Y → D in AHUS1. 1 Publication
VAR_025876
Natural varianti1157 – 11571W → R in AHUS1. 1 Publication
VAR_025877
Natural varianti1163 – 11631C → W in AHUS1. 1 Publication
VAR_025878
Natural varianti1169 – 11691I → L in AHUS1. 1 Publication
VAR_063650
Natural varianti1183 – 11831W → C in AHUS1. 1 Publication
VAR_063651
Natural varianti1183 – 11831W → L in AHUS1. 3 Publications
VAR_025879
Natural varianti1183 – 11831W → R in AHUS1. 2 Publications
VAR_025880
Natural varianti1189 – 11891L → R in AHUS1. 2 Publications
VAR_019407
Natural varianti1191 – 11911S → L in AHUS1. 2 Publications
Corresponds to variant rs460897 [ dbSNP | Ensembl ].
VAR_019408
Natural varianti1194 – 11941G → D in AHUS1. 1 Publication
VAR_025882
Natural varianti1197 – 11971V → A in AHUS1. 2 Publications
Corresponds to variant rs460184 [ dbSNP | Ensembl ].
VAR_025883
Natural varianti1198 – 11981E → A in AHUS1. 1 Publication
VAR_025884
Natural varianti1199 – 11991F → S in AHUS1. 1 Publication
VAR_031986
Natural varianti1215 – 12151R → G in AHUS1. 2 Publications
VAR_025886
Natural varianti1225 – 12317YPTCAKR → FQS in AHUS1. 1 Publication
VAR_019409
Natural varianti1226 – 12261P → S in AHUS1; atypical. 1 Publication
VAR_025888
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.1 Publication
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti402 – 4021Y → H Polymorphism associated with ARMD4. 5 Publications
Corresponds to variant rs1061170 [ dbSNP | Ensembl ].
VAR_001979
Natural varianti1210 – 12101R → C in CFHD and ARMD4; rare penetrant mutation that confers high risk of age-related macular degeneration. 3 Publications
VAR_025885

Keywords - Diseasei

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

Organism-specific databases

MIMi126700. phenotype.
235400. phenotype.
609814. phenotype.
610698. phenotype.
Orphaneti279. Age-related macular degeneration.
93579. 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.
PharmGKBiPA29261.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 18181 PublicationAdd
BLAST
Chaini19 – 12311213Complement factor HPRO_0000005894Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
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
Glycosylationi217 – 2171N-linked (GlcNAc...) (complex)1 Publication
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
Glycosylationi529 – 5291N-linked (GlcNAc...)4 Publications
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
Glycosylationi718 – 7181N-linked (GlcNAc...)1 Publication
Disulfide bondi719 ↔ 744PROSITE-ProRule annotation
Disulfide bondi753 ↔ 792PROSITE-ProRule annotation
Disulfide bondi781 ↔ 803PROSITE-ProRule annotation
Glycosylationi802 – 8021N-linked (GlcNAc...)2 Publications
Disulfide bondi811 ↔ 853PROSITE-ProRule annotation
Glycosylationi822 – 8221N-linked (GlcNAc...)1 Publication
Disulfide bondi839 ↔ 864PROSITE-ProRule annotation
Disulfide bondi870 ↔ 915PROSITE-ProRule annotation
Glycosylationi882 – 8821N-linked (GlcNAc...) (complex)5 Publications
Disulfide bondi901 ↔ 926PROSITE-ProRule annotation
Glycosylationi911 – 9111N-linked (GlcNAc...) (complex)4 Publications
Disulfide bondi931 ↔ 973PROSITE-ProRule annotation
Disulfide bondi959 ↔ 984PROSITE-ProRule annotation
Disulfide bondi989 ↔ 1032PROSITE-ProRule annotation
Disulfide bondi1018 ↔ 1043PROSITE-ProRule annotation
Glycosylationi1029 – 10291N-linked (GlcNAc...) (complex)3 Publications
Disulfide bondi1048 ↔ 1091PROSITE-ProRule annotation
Disulfide bondi1077 ↔ 1102PROSITE-ProRule annotation
Glycosylationi1095 – 10951N-linked (GlcNAc...)1 Publication
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

MaxQBiP08603.
PaxDbiP08603.
PRIDEiP08603.

PTM databases

PhosphoSiteiP08603.

Expressioni

Tissue specificityi

Expressed by the liver and secreted in plasma.

Gene expression databases

BgeeiP08603.
ExpressionAtlasiP08603. baseline and differential.
GenevestigatoriP08603.

Organism-specific databases

HPAiCAB016385.
CAB016769.
HPA038922.
HPA049176.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
C3P010242EBI-1223708,EBI-6863106
ennXP169462EBI-1223708,EBI-6403567From a different organism.

Protein-protein interaction databases

BioGridi109324. 14 interactions.
DIPiDIP-38303N.
IntActiP08603. 15 interactions.

Structurei

Secondary structure

1
1231
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi21 – 233Combined sources
Beta strandi29 – 335Combined sources
Beta strandi47 – 526Combined sources
Beta strandi62 – 665Combined sources
Beta strandi68 – 747Combined sources
Beta strandi94 – 10512Combined sources
Beta strandi109 – 1146Combined sources
Beta strandi118 – 1236Combined sources
Beta strandi126 – 1294Combined sources
Beta strandi131 – 1344Combined sources
Beta strandi140 – 1434Combined sources
Beta strandi155 – 1584Combined sources
Beta strandi159 – 1624Combined sources
Beta strandi172 – 1754Combined sources
Beta strandi182 – 1865Combined sources
Beta strandi188 – 1925Combined sources
Beta strandi196 – 2005Combined sources
Beta strandi204 – 2074Combined sources
Beta strandi218 – 2225Combined sources
Beta strandi232 – 2376Combined sources
Beta strandi241 – 2455Combined sources
Beta strandi247 – 2526Combined sources
Beta strandi255 – 2584Combined sources
Beta strandi262 – 2643Combined sources
Beta strandi333 – 3353Combined sources
Helixi338 – 3414Combined sources
Helixi342 – 3443Combined sources
Beta strandi352 – 3576Combined sources
Beta strandi366 – 37510Combined sources
Beta strandi378 – 3836Combined sources
Beta strandi386 – 3905Combined sources
Turni400 – 4034Combined sources
Beta strandi405 – 4073Combined sources
Beta strandi411 – 4133Combined sources
Beta strandi415 – 4173Combined sources
Beta strandi420 – 4223Combined sources
Helixi423 – 4253Combined sources
Beta strandi428 – 4325Combined sources
Beta strandi435 – 4384Combined sources
Beta strandi447 – 4493Combined sources
Helixi450 – 4523Combined sources
Beta strandi456 – 4594Combined sources
Beta strandi465 – 4684Combined sources
Beta strandi472 – 4776Combined sources
Beta strandi484 – 4863Combined sources
Beta strandi488 – 4958Combined sources
Beta strandi498 – 5003Combined sources
Beta strandi508 – 5103Combined sources
Beta strandi515 – 5184Combined sources
Beta strandi524 – 5274Combined sources
Beta strandi531 – 5366Combined sources
Beta strandi547 – 5548Combined sources
Beta strandi557 – 5604Combined sources
Beta strandi578 – 5814Combined sources
Beta strandi585 – 5873Combined sources
Beta strandi592 – 5976Combined sources
Beta strandi602 – 6054Combined sources
Beta strandi607 – 6126Combined sources
Beta strandi615 – 6184Combined sources
Beta strandi622 – 6265Combined sources
Beta strandi637 – 6415Combined sources
Beta strandi654 – 6585Combined sources
Beta strandi663 – 6653Combined sources
Beta strandi669 – 6746Combined sources
Beta strandi675 – 6784Combined sources
Beta strandi684 – 6863Combined sources
Beta strandi700 – 7034Combined sources
Beta strandi714 – 7185Combined sources
Beta strandi723 – 7275Combined sources
Beta strandi729 – 7324Combined sources
Beta strandi737 – 7393Combined sources
Beta strandi743 – 7464Combined sources
Beta strandi757 – 7604Combined sources
Helixi765 – 7673Combined sources
Beta strandi769 – 7713Combined sources
Beta strandi790 – 7923Combined sources
Beta strandi797 – 7993Combined sources
Beta strandi870 – 8723Combined sources
Beta strandi879 – 8813Combined sources
Beta strandi883 – 8875Combined sources
Beta strandi889 – 8913Combined sources
Beta strandi895 – 90410Combined sources
Beta strandi906 – 9094Combined sources
Beta strandi911 – 9166Combined sources
Beta strandi925 – 9273Combined sources
Beta strandi940 – 9434Combined sources
Beta strandi950 – 9523Combined sources
Beta strandi957 – 9593Combined sources
Beta strandi965 – 9673Combined sources
Beta strandi971 – 9744Combined sources
Beta strandi977 – 9793Combined sources
Beta strandi1057 – 10593Combined sources
Beta strandi1065 – 10673Combined sources
Beta strandi1072 – 10776Combined sources
Beta strandi1082 – 10854Combined sources
Beta strandi1087 – 10926Combined sources
Beta strandi1101 – 11033Combined sources
Beta strandi1118 – 11225Combined sources
Beta strandi1126 – 11283Combined sources
Beta strandi1133 – 11386Combined sources
Beta strandi1143 – 11464Combined sources
Beta strandi1148 – 11536Combined sources
Beta strandi1162 – 11643Combined sources
Beta strandi1167 – 11704Combined sources
Helixi1171 – 11777Combined sources
Beta strandi1179 – 11813Combined sources
Turni1182 – 11865Combined sources
Beta strandi1189 – 11913Combined sources
Beta strandi1196 – 12016Combined sources
Turni1202 – 12043Combined sources
Beta strandi1205 – 12073Combined sources
Beta strandi1214 – 12174Combined sources
Beta strandi1228 – 12303Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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[»]
ProteinModelPortaliP08603.
SMRiP08603. Positions 20-1230.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08603.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini19 – 8264Sushi 1PROSITE-ProRule annotationAdd
BLAST
Domaini83 – 14361Sushi 2PROSITE-ProRule annotationAdd
BLAST
Domaini144 – 20764Sushi 3PROSITE-ProRule annotationAdd
BLAST
Domaini208 – 26457Sushi 4PROSITE-ProRule annotationAdd
BLAST
Domaini265 – 32258Sushi 5PROSITE-ProRule annotationAdd
BLAST
Domaini324 – 38663Sushi 6PROSITE-ProRule annotationAdd
BLAST
Domaini387 – 44458Sushi 7PROSITE-ProRule annotationAdd
BLAST
Domaini446 – 50762Sushi 8PROSITE-ProRule annotationAdd
BLAST
Domaini515 – 56652Sushi 9PROSITE-ProRule annotationAdd
BLAST
Domaini567 – 62559Sushi 10PROSITE-ProRule annotationAdd
BLAST
Domaini628 – 68659Sushi 11PROSITE-ProRule annotationAdd
BLAST
Domaini689 – 74658Sushi 12PROSITE-ProRule annotationAdd
BLAST
Domaini751 – 80555Sushi 13PROSITE-ProRule annotationAdd
BLAST
Domaini809 – 86658Sushi 14PROSITE-ProRule annotationAdd
BLAST
Domaini868 – 92861Sushi 15PROSITE-ProRule annotationAdd
BLAST
Domaini929 – 98658Sushi 16PROSITE-ProRule annotationAdd
BLAST
Domaini987 – 104559Sushi 17PROSITE-ProRule annotationAdd
BLAST
Domaini1046 – 110459Sushi 18PROSITE-ProRule annotationAdd
BLAST
Domaini1107 – 116559Sushi 19PROSITE-ProRule annotationAdd
BLAST
Domaini1170 – 123061Sushi 20PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 20 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiNOG148800.
HOVERGENiHBG005665.
InParanoidiP08603.
KOiK04004.
OrthoDBiEOG75XGK1.
PhylomeDBiP08603.
TreeFamiTF326157.

Family and domain databases

InterProiIPR000436. Sushi_SCR_CCP.
[Graphical view]
PfamiPF00084. Sushi. 19 hits.
[Graphical view]
SMARTiSM00032. CCP. 20 hits.
[Graphical view]
SUPFAMiSSF57535. SSF57535. 18 hits.
PROSITEiPS50923. SUSHI. 19 hits.
[Graphical view]

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. Align

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

Sequence cautioni

The sequence CAB41739.1 differs from that shown. Reason: Frameshift at position 341. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti21 – 211C → Q AA sequence (PubMed:6215918)Curated
Sequence conflicti30 – 301T → V AA sequence (PubMed:6215918)Curated
Sequence conflicti34 – 341T → Q AA sequence (PubMed:6215918)Curated
Sequence conflicti53 – 542RP → IL in CAB41739. (PubMed:2946589)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621V → I Polymorphism confirmed at protein level. 4 Publications
Corresponds to variant rs800292 [ dbSNP | Ensembl ].
VAR_023836
Natural varianti78 – 781R → G in AHUS1. 1 Publication
VAR_025864
Natural varianti127 – 1271R → L in CFHD; with membranoproliferative glomerulonephritis. 1 Publication
VAR_031978
Natural varianti224 – 2241Missing in CFHD; with membranoproliferative glomerulonephritis; affects binding of factor H to C3b and shows defective complement regulation. 1 Publication
VAR_031979
Natural varianti325 – 3251C → Y in AHUS1. 1 Publication
VAR_063648
Natural varianti400 – 4001Q → K in AHUS1. 1 Publication
VAR_031980
Natural varianti402 – 4021Y → H Polymorphism associated with ARMD4. 5 Publications
Corresponds to variant rs1061170 [ dbSNP | Ensembl ].
VAR_001979
Natural varianti431 – 4311C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication
VAR_031981
Natural varianti493 – 4931T → R.1 Publication
Corresponds to variant rs1061171 [ dbSNP | Ensembl ].
VAR_043892
Natural varianti536 – 5361C → R in CFHD. 1 Publication
VAR_019405
Natural varianti551 – 5511I → T.1 Publication
Corresponds to variant rs35453854 [ dbSNP | Ensembl ].
VAR_025092
Natural varianti567 – 5671R → G Associated with basal laminar drusen. 1 Publication
VAR_043893
Natural varianti609 – 6091V → I in AHUS1. 1 Publication
VAR_063649
Natural varianti630 – 6301C → W in AHUS1. 1 Publication
VAR_025865
Natural varianti673 – 6731C → S in CFHD; with membranoproliferative glomerulonephritis. 1 Publication
VAR_031982
Natural varianti673 – 6731C → Y in AHUS1. 1 Publication
VAR_031983
Natural varianti850 – 8501E → K in AHUS1; variant confirmed at protein level. 2 Publications
VAR_025866
Natural varianti890 – 8901S → I.1 Publication
Corresponds to variant rs515299 [ dbSNP | Ensembl ].
VAR_025093
Natural varianti893 – 8931H → R in AHUS1. 1 Publication
VAR_031984
Natural varianti915 – 9151C → S in AHUS1. 1 Publication
VAR_031985
Natural varianti936 – 9361E → D Polymorphism associated with hemolytic uremic syndrome and basal laminar drusen. 4 Publications
Corresponds to variant rs1065489 [ dbSNP | Ensembl ].
VAR_020261
Natural varianti950 – 9501Q → H in AHUS1. 1 Publication
Corresponds to variant rs149474608 [ dbSNP | Ensembl ].
VAR_025867
Natural varianti951 – 9511Y → H in AHUS1. 1 Publication
VAR_025868
Natural varianti956 – 9561T → M in AHUS1. 2 Publications
Corresponds to variant rs145975787 [ dbSNP | Ensembl ].
VAR_025869
Natural varianti959 – 9591C → Y in CFHD; variant confirmed at protein level. 2 Publications
VAR_019406
Natural varianti978 – 9781W → C in AHUS1. 1 Publication
VAR_025870
Natural varianti997 – 9971N → T.
Corresponds to variant rs17575212 [ dbSNP | Ensembl ].
VAR_055683
Natural varianti1007 – 10071V → I.1 Publication
VAR_025094
Natural varianti1007 – 10071V → L.
Corresponds to variant rs534399 [ dbSNP | Ensembl ].
VAR_043894
Natural varianti1010 – 10101A → T.
Corresponds to variant rs11539862 [ dbSNP | Ensembl ].
VAR_055684
Natural varianti1017 – 10171T → I.1 Publication
Corresponds to variant rs34362004 [ dbSNP | Ensembl ].
VAR_025095
Natural varianti1021 – 10211Y → F in AHUS1. 1 Publication
VAR_025871
Natural varianti1043 – 10431C → R in AHUS1. 1 Publication
VAR_025872
Natural varianti1050 – 10501N → Y Polymorphism associated with basal laminar drusen. 2 Publications
Corresponds to variant rs35274867 [ dbSNP | Ensembl ].
VAR_025096
Natural varianti1059 – 10591I → T.1 Publication
Corresponds to variant rs35343172 [ dbSNP | Ensembl ].
VAR_025097
Natural varianti1076 – 10761Q → E in CFHD. 2 Publications
VAR_025873
Natural varianti1078 – 10781R → S Associated with basal laminar drusen. 1 Publication
VAR_043895
Natural varianti1119 – 11191D → G in CFHD. 2 Publications
VAR_025874
Natural varianti1134 – 11341V → G in AHUS1. 1 Publication
VAR_025875
Natural varianti1142 – 11421Y → D in AHUS1. 1 Publication
VAR_025876
Natural varianti1143 – 11431Q → E Polymorphism confirmed at protein level. 1 Publication
Corresponds to variant rs34247141 [ dbSNP | Ensembl ].
VAR_043896
Natural varianti1157 – 11571W → R in AHUS1. 1 Publication
VAR_025877
Natural varianti1163 – 11631C → W in AHUS1. 1 Publication
VAR_025878
Natural varianti1169 – 11691I → L in AHUS1. 1 Publication
VAR_063650
Natural varianti1183 – 11831W → C in AHUS1. 1 Publication
VAR_063651
Natural varianti1183 – 11831W → L in AHUS1. 3 Publications
VAR_025879
Natural varianti1183 – 11831W → R in AHUS1. 2 Publications
VAR_025880
Natural varianti1184 – 11841T → R in CFHD. 2 Publications
VAR_025881
Natural varianti1189 – 11891L → R in AHUS1. 2 Publications
VAR_019407
Natural varianti1191 – 11911S → L in AHUS1. 2 Publications
Corresponds to variant rs460897 [ dbSNP | Ensembl ].
VAR_019408
Natural varianti1194 – 11941G → D in AHUS1. 1 Publication
VAR_025882
Natural varianti1197 – 11971V → A in AHUS1. 2 Publications
Corresponds to variant rs460184 [ dbSNP | Ensembl ].
VAR_025883
Natural varianti1198 – 11981E → A in AHUS1. 1 Publication
VAR_025884
Natural varianti1199 – 11991F → S in AHUS1. 1 Publication
VAR_031986
Natural varianti1210 – 12101R → C in CFHD and ARMD4; rare penetrant mutation that confers high risk of age-related macular degeneration. 3 Publications
VAR_025885
Natural varianti1215 – 12151R → G in AHUS1. 2 Publications
VAR_025886
Natural varianti1215 – 12151R → Q in CFHD. 2 Publications
VAR_025887
Natural varianti1225 – 12317YPTCAKR → FQS in AHUS1. 1 Publication
VAR_019409
Natural varianti1226 – 12261P → S in AHUS1; atypical. 1 Publication
VAR_025888

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei446 – 4494KTCS → SFTL in isoform 2. 2 PublicationsVSP_001190
Alternative sequencei450 – 1231782Missing in isoform 2. 2 PublicationsVSP_001191Add
BLAST

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. Translation: CAI19672.1.
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]
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]

Polymorphism databases

DMDMi158517847.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. Translation: CAI19672.1 .
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 .
CCDSi CCDS1385.1. [P08603-1 ]
PIRi S00254. NBHUH.
S03013. NBHUHS.
RefSeqi NP_000177.2. NM_000186.3.
UniGenei Hs.363396.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1FHC model - A 1105-1231 [» ]
1HAQ X-ray - A 19-1231 [» ]
1HCC NMR - A 927-985 [» ]
1HFH NMR - A 866-985 [» ]
1HFI NMR - A 866-927 [» ]
1KOV model - A 321-443 [» ]
2BZM NMR - A 1107-1231 [» ]
2G7I X-ray 1.75 A 1107-1231 [» ]
2IC4 X-ray - A 321-506 [» ]
2JGW NMR - A 386-446 [» ]
2JGX NMR - A 386-446 [» ]
2KMS NMR - A 690-804 [» ]
2QFG X-ray - A 19-322 [» ]
2QFH X-ray - A 928-1231 [» ]
2RLP NMR - A 20-142 [» ]
2RLQ NMR - A 84-206 [» ]
2UWN X-ray 2.35 A 322-506 [» ]
2V8E X-ray 2.50 A 322-506 [» ]
2W80 X-ray 2.35 A/B/E/G 321-443 [» ]
2W81 X-ray 2.35 A/B/E 321-443 [» ]
2WII X-ray 2.70 C 18-264 [» ]
2XQW X-ray 2.31 C 1103-1231 [» ]
3GAU X-ray - A 19-1231 [» ]
3GAV X-ray - A 19-1231 [» ]
3GAW X-ray - A 19-1231 [» ]
3KXV X-ray 2.00 A 1103-1231 [» ]
3KZJ X-ray 1.65 A 1103-1231 [» ]
3OXU X-ray 2.10 D/E/F 1107-1231 [» ]
3R62 X-ray 1.52 A/B 1107-1231 [» ]
3RJ3 X-ray 2.35 D/E/F 1107-1231 [» ]
3SW0 X-ray 1.80 X 1046-1231 [» ]
4AYD X-ray 2.40 A/B/E 321-443 [» ]
4AYE X-ray 2.80 A/B/E 321-443 [» ]
4AYI X-ray 2.31 A/E 321-443 [» ]
4AYM X-ray 3.00 A/B/E/F 321-443 [» ]
4B2R NMR - A 566-687 [» ]
4B2S NMR - A 627-747 [» ]
4J38 X-ray 2.83 B 1103-1231 [» ]
4K12 X-ray 1.08 A 508-567 [» ]
ProteinModelPortali P08603.
SMRi P08603. Positions 20-1230.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109324. 14 interactions.
DIPi DIP-38303N.
IntActi P08603. 15 interactions.

Chemistry

BindingDBi P08603.
ChEMBLi CHEMBL4629.

PTM databases

PhosphoSitei P08603.

Polymorphism databases

DMDMi 158517847.

Proteomic databases

MaxQBi P08603.
PaxDbi P08603.
PRIDEi P08603.

Protocols and materials databases

DNASUi 3075.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367429 ; ENSP00000356399 ; ENSG00000000971 .
GeneIDi 3075.
KEGGi hsa:3075.
UCSCi uc001gtj.4. human. [P08603-1 ]

Organism-specific databases

CTDi 3075.
GeneCardsi GC01P196621.
GeneReviewsi CFH.
HGNCi HGNC:4883. CFH.
HPAi CAB016385.
CAB016769.
HPA038922.
HPA049176.
MIMi 126700. phenotype.
134370. gene.
235400. phenotype.
609814. phenotype.
610698. phenotype.
neXtProti NX_P08603.
Orphaneti 279. Age-related macular degeneration.
93579. 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.
PharmGKBi PA29261.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG148800.
HOVERGENi HBG005665.
InParanoidi P08603.
KOi K04004.
OrthoDBi EOG75XGK1.
PhylomeDBi P08603.
TreeFami TF326157.

Enzyme and pathway databases

Reactomei REACT_118707. Regulation of Complement cascade.

Miscellaneous databases

ChiTaRSi CFH. human.
EvolutionaryTracei P08603.
GeneWikii Factor_H.
GenomeRNAii 3075.
NextBioi 12163.
PROi P08603.
SOURCEi Search...

Gene expression databases

Bgeei P08603.
ExpressionAtlasi P08603. baseline and differential.
Genevestigatori P08603.

Family and domain databases

InterProi IPR000436. Sushi_SCR_CCP.
[Graphical view ]
Pfami PF00084. Sushi. 19 hits.
[Graphical view ]
SMARTi SM00032. CCP. 20 hits.
[Graphical view ]
SUPFAMi SSF57535. SSF57535. 18 hits.
PROSITEi PS50923. SUSHI. 19 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The complete amino acid sequence of human complement factor H."
    Ripoche J., Day A.J.,