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Protein

Complement factor B

Gene

CFB

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

Functioni

Factor B which is part of the alternate pathway of the complement system is cleaved by factor D into 2 fragments: Ba and Bb. Bb, a serine protease, then combines with complement factor 3b to generate the C3 or C5 convertase. It has also been implicated in proliferation and differentiation of preactivated B-lymphocytes, rapid spreading of peripheral blood monocytes, stimulation of lymphocyte blastogenesis and lysis of erythrocytes. Ba inhibits the proliferation of preactivated B-lymphocytes.

Catalytic activityi

Cleavage of Arg-|-Ser bond in complement component C3 alpha-chain to yield C3a and C3b, and Arg-|-Xaa bond in complement component C5 alpha-chain to yield C5a and C5b.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei526Charge relay system1
Active sitei576Charge relay system1
Active sitei699Charge relay system1

GO - Molecular functioni

  • complement binding Source: UniProtKB
  • serine-type endopeptidase activity Source: Reactome

GO - Biological processi

Keywordsi

Molecular functionHydrolase, Protease, Serine protease
Biological processComplement alternate pathway, Immunity, Innate immunity

Enzyme and pathway databases

BRENDAi3.4.21.47 2681
ReactomeiR-HSA-173736 Alternative complement activation
R-HSA-174577 Activation of C3 and C5
R-HSA-977606 Regulation of Complement cascade
SIGNORiP00751

Protein family/group databases

MEROPSiS01.196

Names & Taxonomyi

Protein namesi
Recommended name:
Complement factor B (EC:3.4.21.47)
Alternative name(s):
C3/C5 convertase
Glycine-rich beta glycoprotein
Short name:
GBG
PBF2
Properdin factor B
Cleaved into the following 2 chains:
Gene namesi
Name:CFB
Synonyms:BF, BFD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000243649.8
HGNCiHGNC:1037 CFB
MIMi138470 gene
neXtProtiNX_P00751

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

Hemolytic uremic syndrome atypical 4 (AHUS4)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to the development of atypical hemolytic uremic syndrome can be conferred by mutations in various components of or regulatory factors in the complement cascade system. 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:612924
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063659166S → P in AHUS4. 1 Publication1
Natural variantiVAR_063660203R → Q in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs745794224Ensembl.1
Natural variantiVAR_063661242I → L in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs144812066EnsemblClinVar.1
Natural variantiVAR_063221286F → L in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant dbSNP:rs117905900EnsemblClinVar.1
Natural variantiVAR_063222323K → E in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant dbSNP:rs121909748EnsemblClinVar.1
Natural variantiVAR_063662323K → Q in AHUS4. 1 Publication1
Natural variantiVAR_063663458M → I in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs200837114Ensembl.1
Natural variantiVAR_063664533K → R in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs149101394EnsemblClinVar.1
Complement factor B deficiency (CFBD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.
See also OMIM:615561

Keywords - Diseasei

Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

DisGeNETi629
GeneReviewsiCFB
MalaCardsiCFB
MIMi603075 phenotype
612924 phenotype
615561 phenotype
OpenTargetsiENSG00000243649
Orphaneti93578 Atypical hemolytic-uremic syndrome with B factor anomaly
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA25341

Chemistry databases

ChEMBLiCHEMBL5731
DrugBankiDB02459 4-Guanidinobenzoic Acid
DB04491 Diisopropylphosphono Group
GuidetoPHARMACOLOGYi2339

Polymorphism and mutation databases

BioMutaiCFB
DMDMi584908

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 251 PublicationAdd BLAST25
ChainiPRO_000002754526 – 764Complement factor BAdd BLAST739
ChainiPRO_000002754626 – 259Complement factor B Ba fragmentAdd BLAST234
ChainiPRO_0000027547260 – 764Complement factor B Bb fragmentAdd BLAST505

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi37 ↔ 761 Publication
Disulfide bondi62 ↔ 981 Publication
Disulfide bondi103 ↔ 1451 Publication
Glycosylationi122N-linked (GlcNAc...) asparagine4 Publications1
Disulfide bondi131 ↔ 1581 Publication
Glycosylationi142N-linked (GlcNAc...) asparagine3 Publications1
Disulfide bondi165 ↔ 2051 Publication
Disulfide bondi191 ↔ 2181 Publication
Glycosylationi285N-linked (GlcNAc...) asparagine4 Publications1
Glycosylationi291N-linked (Glc) (glycation) lysine1 Publication1
Glycosylationi378N-linked (GlcNAc...) asparagine4 Publications1
Disulfide bondi478 ↔ 5961 Publication
Disulfide bondi511 ↔ 5271 Publication
Disulfide bondi599 ↔ 6151 Publication
Disulfide bondi656 ↔ 6821 Publication
Disulfide bondi695 ↔ 7251 Publication

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycation, Glycoprotein, Zymogen

Proteomic databases

EPDiP00751
MaxQBiP00751
PaxDbiP00751
PeptideAtlasiP00751
PRIDEiP00751
ProteomicsDBi51285
51286 [P00751-2]

2D gel databases

DOSAC-COBS-2DPAGEiP00751
REPRODUCTION-2DPAGEiP00751
SWISS-2DPAGEiP00751

PTM databases

CarbonylDBiP00751
GlyConnecti753
iPTMnetiP00751
PhosphoSitePlusiP00751

Expressioni

Gene expression databases

BgeeiENSG00000243649 Expressed in 199 organ(s), highest expression level in right lobe of liver
CleanExiHS_CFB
ExpressionAtlasiP00751 baseline and differential
GenevisibleiP00751 HS

Organism-specific databases

HPAiCAB016381
HPA000951
HPA001817
HPA001832

Interactioni

Subunit structurei

Monomer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
C3P010243EBI-1223668,EBI-905851

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107098, 16 interactors
DIPiDIP-38319N
IntActiP00751, 6 interactors
MINTiP00751
STRINGi9606.ENSP00000416561

Chemistry databases

BindingDBiP00751

Structurei

Secondary structure

1764
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP00751
SMRiP00751
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00751

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 100Sushi 1PROSITE-ProRule annotationAdd BLAST66
Domaini101 – 160Sushi 2PROSITE-ProRule annotationAdd BLAST60
Domaini163 – 220Sushi 3PROSITE-ProRule annotationAdd BLAST58
Domaini270 – 469VWFAPROSITE-ProRule annotationAdd BLAST200
Domaini477 – 757Peptidase S1PROSITE-ProRule annotationAdd BLAST281

Domaini

The unliganded VWA domain has an inactive 'locked' conformation whereby the scissile Arg-259|Lys-260 bond is protected from proteolytic activation.1 Publication

Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00530000063826
HOVERGENiHBG002567
InParanoidiP00751
KOiK01335
OrthoDBiEOG091G02G8
PhylomeDBiP00751
TreeFamiTF330194

Family and domain databases

CDDicd00033 CCP, 3 hits
cd00190 Tryp_SPc, 1 hit
Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR011360 Compl_C2_B
IPR028341 Complement_B
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PANTHERiPTHR19325:SF394 PTHR19325:SF394, 1 hit
PfamiView protein in Pfam
PF00084 Sushi, 3 hits
PF00089 Trypsin, 1 hit
PF00092 VWA, 1 hit
PIRSFiPIRSF001154 Compl_C2_B, 1 hit
PIRSF500181 Complement_B, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00032 CCP, 3 hits
SM00020 Tryp_SPc, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
SSF53300 SSF53300, 1 hit
SSF57535 SSF57535, 3 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 3 hits
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit
PS50234 VWFA, 1 hit

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 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P00751-1) [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
MGSNLSPQLC LMPFILGLLS GGVTTTPWSL ARPQGSCSLE GVEIKGGSFR
60 70 80 90 100
LLQEGQALEY VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA
110 120 130 140 150
IHCPRPHDFE NGEYWPRSPY YNVSDEISFH CYDGYTLRGS ANRTCQVNGR
160 170 180 190 200
WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ YRLEDSVTYH CSRGLTLRGS
210 220 230 240 250
QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE TIEGVDAEDG
260 270 280 290 300
HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV
310 320 330 340 350
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK
360 370 380 390 400
SGTNTKKALQ AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT
410 420 430 440 450
VIDEIRDLLY IGKDRKNPRE DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ
460 470 480 490 500
HVFKVKDMEN LEDVFYQMID ESQSLSLCGM VWEHRKGTDY HKQPWQAKIS
510 520 530 540 550
VIRPSKGHES CMGAVVSEYF VLTAAHCFTV DDKEHSIKVS VGGEKRDLEI
560 570 580 590 600
EVVLFHPNYN INGKKEAGIP EFYDYDVALI KLKNKLKYGQ TIRPICLPCT
610 620 630 640 650
EGTTRALRLP PTTTCQQQKE ELLPAQDIKA LFVSEEEKKL TRKEVYIKNG
660 670 680 690 700
DKKGSCERDA QYAPGYDKVK DISEVVTPRF LCTGGVSPYA DPNTCRGDSG
710 720 730 740 750
GPLIVHKRSR FIQVGVISWG VVDVCKNQKR QKQVPAHARD FHINLFQVLP
760
WLKEKLQDED LGFL
Length:764
Mass (Da):85,533
Last modified:October 1, 1994 - v2
Checksum:i8BB6C101CC6AC200
GO
Isoform 2 (identifier: P00751-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     543-621: GEKRDLEIEV...TTTCQQQKEE → KDATEGPGLH...LQEGRSGTWR
     622-764: Missing.

Show »
Length:621
Mass (Da):68,872
Checksum:i181713F2D4D9EC1E
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0G2JH38A0A0G2JH38_HUMAN
Complement factor B
CFB
589Annotation score:
C9JRT3C9JRT3_HUMAN
Complement factor B
CFB
144Annotation score:
H7C5H1H7C5H1_HUMAN
Complement factor B
CFB
305Annotation score:
H7C526H7C526_HUMAN
Complement factor B
CFB
68Annotation score:
F8WBL9F8WBL9_HUMAN
Complement factor B
CFB
86Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti297I → T AA sequence (PubMed:6342610).Curated1
Sequence conflicti300V → L in AAA36225 (PubMed:6546754).Curated1
Sequence conflicti328D → V in AAA36225 (PubMed:6546754).Curated1
Sequence conflicti356 – 357KK → EE in AAA36225 (PubMed:6546754).Curated2
Sequence conflicti537I → T in AAA36219 (PubMed:6957884).Curated1
Sequence conflicti764L → H in AAA36220 (PubMed:6957884).Curated1

Polymorphismi

Two major variants, F and S, and 2 minor variants, as well as at least 14 very rare variants, have been identified. The variants His-9 and Gln-32 are associated with a reduced risk of age-related macular degeneration (ARMD) [MIMi:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0162749L → H2 PublicationsCorresponds to variant dbSNP:rs4151667EnsemblClinVar.1
Natural variantiVAR_00649328W → Q in allele FA; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_00649228W → R in allele S. 4 Publications1
Natural variantiVAR_00649432R → Q in allele S. 6 PublicationsCorresponds to variant dbSNP:rs641153EnsemblClinVar.1
Natural variantiVAR_01627532R → W4 PublicationsCorresponds to variant dbSNP:rs12614EnsemblClinVar.1
Natural variantiVAR_063659166S → P in AHUS4. 1 Publication1
Natural variantiVAR_063660203R → Q in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs745794224Ensembl.1
Natural variantiVAR_063661242I → L in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs144812066EnsemblClinVar.1
Natural variantiVAR_016276252G → S1 PublicationCorresponds to variant dbSNP:rs4151651EnsemblClinVar.1
Natural variantiVAR_063221286F → L in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant dbSNP:rs117905900EnsemblClinVar.1
Natural variantiVAR_063222323K → E in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant dbSNP:rs121909748EnsemblClinVar.1
Natural variantiVAR_063662323K → Q in AHUS4. 1 Publication1
Natural variantiVAR_063663458M → I in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs200837114Ensembl.1
Natural variantiVAR_063664533K → R in AHUS4. 1 PublicationCorresponds to variant dbSNP:rs149101394EnsemblClinVar.1
Natural variantiVAR_016277565K → E2 PublicationsCorresponds to variant dbSNP:rs4151659EnsemblClinVar.1
Natural variantiVAR_016278651D → E1 PublicationCorresponds to variant dbSNP:rs4151660Ensembl.1
Natural variantiVAR_006495736A → S in allele FA. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_005380543 – 621GEKRD…QQKEE → KDATEGPGLHLCSPGNTSHF LQILHSTHPQCSPIPCTPDQ SGMGEDVKLGMTRGQRQEAA HKEVVPTLLLQEGRSGTWR in isoform 2. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_005381622 – 764Missing in isoform 2. 1 PublicationAdd BLAST143

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72875 mRNA Translation: CAA51389.1
S67310 mRNA Translation: AAD13989.1
L15702 mRNA Translation: AAA16820.1
X00284 mRNA Translation: CAA25077.1
AF349679 mRNA Translation: AAK30167.1
AF019413 Genomic DNA Translation: AAB67977.1
AF551848 Genomic DNA Translation: AAN71991.1
AL662849 Genomic DNA No translation available.
AL844853 Genomic DNA No translation available.
BX005143 Genomic DNA No translation available.
CR388219 Genomic DNA No translation available.
CR759782 Genomic DNA No translation available.
AK223400 mRNA Translation: BAD97120.1
AL645922 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03550.1
BC004143 mRNA Translation: AAH04143.1
BC007990 mRNA Translation: AAH07990.1
K01566 mRNA Translation: AAA36225.2
J00125 Genomic DNA No translation available.
J00126 mRNA Translation: AAA36226.1
J00185 mRNA Translation: AAA36219.1 Sequence problems.
J00186 mRNA Translation: AAA36220.1
M15082 Genomic DNA Translation: AAA59625.1
CCDSiCCDS4729.1 [P00751-1]
PIRiS34075 BBHU
RefSeqiNP_001701.2, NM_001710.5 [P00751-1]
UniGeneiHs.69771

Genome annotation databases

EnsembliENST00000399981; ENSP00000382862; ENSG00000241253
ENST00000417261; ENSP00000414889; ENSG00000239754 [P00751-1]
ENST00000419411; ENSP00000391902; ENSG00000242335 [P00751-1]
ENST00000419920; ENSP00000411474; ENSG00000241253
ENST00000424727; ENSP00000401719; ENSG00000243570 [P00751-1]
ENST00000425368; ENSP00000416561; ENSG00000243649 [P00751-1]
ENST00000426239; ENSP00000413351; ENSG00000242335 [P00751-1]
ENST00000427888; ENSP00000411515; ENSG00000239754 [P00751-1]
ENST00000433503; ENSP00000388352; ENSG00000241534 [P00751-1]
ENST00000436692; ENSP00000389604; ENSG00000243570 [P00751-1]
ENST00000455591; ENSP00000414341; ENSG00000241534 [P00751-1]
GeneIDi629
KEGGihsa:629
UCSCiuc003nyj.5 human [P00751-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X72875 mRNA Translation: CAA51389.1
S67310 mRNA Translation: AAD13989.1
L15702 mRNA Translation: AAA16820.1
X00284 mRNA Translation: CAA25077.1
AF349679 mRNA Translation: AAK30167.1
AF019413 Genomic DNA Translation: AAB67977.1
AF551848 Genomic DNA Translation: AAN71991.1
AL662849 Genomic DNA No translation available.
AL844853 Genomic DNA No translation available.
BX005143 Genomic DNA No translation available.
CR388219 Genomic DNA No translation available.
CR759782 Genomic DNA No translation available.
AK223400 mRNA Translation: BAD97120.1
AL645922 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX03550.1
BC004143 mRNA Translation: AAH04143.1
BC007990 mRNA Translation: AAH07990.1
K01566 mRNA Translation: AAA36225.2
J00125 Genomic DNA No translation available.
J00126 mRNA Translation: AAA36226.1
J00185 mRNA Translation: AAA36219.1 Sequence problems.
J00186 mRNA Translation: AAA36220.1
M15082 Genomic DNA Translation: AAA59625.1
CCDSiCCDS4729.1 [P00751-1]
PIRiS34075 BBHU
RefSeqiNP_001701.2, NM_001710.5 [P00751-1]
UniGeneiHs.69771

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1DLEX-ray2.10A/B470-764[»]
1Q0PX-ray1.80A254-476[»]
1RRKX-ray2.00A268-764[»]
1RS0X-ray2.60A268-764[»]
1RTKX-ray2.30A268-764[»]
2OK5X-ray2.30A26-764[»]
2WINX-ray3.90I/J/K/L260-764[»]
2XWBX-ray3.49F/H35-764[»]
2XWJX-ray4.00I/J/K/L26-764[»]
3HRZX-ray2.20D26-764[»]
3HS0X-ray3.00D/I26-764[»]
5M6WX-ray6.00J/L260-764[»]
ProteinModelPortaliP00751
SMRiP00751
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107098, 16 interactors
DIPiDIP-38319N
IntActiP00751, 6 interactors
MINTiP00751
STRINGi9606.ENSP00000416561

Chemistry databases

BindingDBiP00751
ChEMBLiCHEMBL5731
DrugBankiDB02459 4-Guanidinobenzoic Acid
DB04491 Diisopropylphosphono Group
GuidetoPHARMACOLOGYi2339

Protein family/group databases

MEROPSiS01.196

PTM databases

CarbonylDBiP00751
GlyConnecti753
iPTMnetiP00751
PhosphoSitePlusiP00751

Polymorphism and mutation databases

BioMutaiCFB
DMDMi584908

2D gel databases

DOSAC-COBS-2DPAGEiP00751
REPRODUCTION-2DPAGEiP00751
SWISS-2DPAGEiP00751

Proteomic databases

EPDiP00751
MaxQBiP00751
PaxDbiP00751
PeptideAtlasiP00751
PRIDEiP00751
ProteomicsDBi51285
51286 [P00751-2]

Protocols and materials databases

DNASUi629
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000399981; ENSP00000382862; ENSG00000241253
ENST00000417261; ENSP00000414889; ENSG00000239754 [P00751-1]
ENST00000419411; ENSP00000391902; ENSG00000242335 [P00751-1]
ENST00000419920; ENSP00000411474; ENSG00000241253
ENST00000424727; ENSP00000401719; ENSG00000243570 [P00751-1]
ENST00000425368; ENSP00000416561; ENSG00000243649 [P00751-1]
ENST00000426239; ENSP00000413351; ENSG00000242335 [P00751-1]
ENST00000427888; ENSP00000411515; ENSG00000239754 [P00751-1]
ENST00000433503; ENSP00000388352; ENSG00000241534 [P00751-1]
ENST00000436692; ENSP00000389604; ENSG00000243570 [P00751-1]
ENST00000455591; ENSP00000414341; ENSG00000241534 [P00751-1]
GeneIDi629
KEGGihsa:629
UCSCiuc003nyj.5 human [P00751-1]

Organism-specific databases

CTDi629
DisGeNETi629
EuPathDBiHostDB:ENSG00000243649.8
GeneCardsiCFB
GeneReviewsiCFB
H-InvDBiHIX0038706
HGNCiHGNC:1037 CFB
HPAiCAB016381
HPA000951
HPA001817
HPA001832
MalaCardsiCFB
MIMi138470 gene
603075 phenotype
612924 phenotype
615561 phenotype
neXtProtiNX_P00751
OpenTargetsiENSG00000243649
Orphaneti93578 Atypical hemolytic-uremic syndrome with B factor anomaly
279 NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA25341
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00530000063826
HOVERGENiHBG002567
InParanoidiP00751
KOiK01335
OrthoDBiEOG091G02G8
PhylomeDBiP00751
TreeFamiTF330194

Enzyme and pathway databases

BRENDAi3.4.21.47 2681
ReactomeiR-HSA-173736 Alternative complement activation
R-HSA-174577 Activation of C3 and C5
R-HSA-977606 Regulation of Complement cascade
SIGNORiP00751

Miscellaneous databases

ChiTaRSiCFB human
EvolutionaryTraceiP00751
GeneWikiiComplement_factor_B
GenomeRNAii629
PROiPR:P00751
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000243649 Expressed in 199 organ(s), highest expression level in right lobe of liver
CleanExiHS_CFB
ExpressionAtlasiP00751 baseline and differential
GenevisibleiP00751 HS

Family and domain databases

CDDicd00033 CCP, 3 hits
cd00190 Tryp_SPc, 1 hit
Gene3Di3.40.50.410, 1 hit
InterProiView protein in InterPro
IPR011360 Compl_C2_B
IPR028341 Complement_B
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR035976 Sushi/SCR/CCP_sf
IPR000436 Sushi_SCR_CCP_dom
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
IPR002035 VWF_A
IPR036465 vWFA_dom_sf
PANTHERiPTHR19325:SF394 PTHR19325:SF394, 1 hit
PfamiView protein in Pfam
PF00084 Sushi, 3 hits
PF00089 Trypsin, 1 hit
PF00092 VWA, 1 hit
PIRSFiPIRSF001154 Compl_C2_B, 1 hit
PIRSF500181 Complement_B, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00032 CCP, 3 hits
SM00020 Tryp_SPc, 1 hit
SM00327 VWA, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
SSF53300 SSF53300, 1 hit
SSF57535 SSF57535, 3 hits
PROSITEiView protein in PROSITE
PS50923 SUSHI, 3 hits
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit
PS50234 VWFA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCFAB_HUMAN
AccessioniPrimary (citable) accession number: P00751
Secondary accession number(s): B0QZQ6
, O15006, Q29944, Q53F89, Q5JP67, Q5ST50, Q96HX6, Q9BTF5, Q9BX92
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 1, 1994
Last modified: November 7, 2018
This is version 232 of the entry and version 2 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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