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Protein

Complement factor B

Gene

CFB

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

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Keywords - Biological processi

Complement alternate pathway, Immunity, Innate immunity

Enzyme and pathway databases

BioCyciZFISH:HS09369-MONOMER.
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.

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

HGNCiHGNC:1037. CFB.

Subcellular locationi

GO - Cellular componenti

  • blood microparticle Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
  • plasma membrane Source: Reactome
Complete GO annotation...

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 rs745794224dbSNPEnsembl.1
Natural variantiVAR_063661242I → L in AHUS4. 1 PublicationCorresponds to variant rs144812066dbSNPEnsembl.1
Natural variantiVAR_063221286F → L in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant rs117905900dbSNPEnsembl.1
Natural variantiVAR_063222323K → E in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant rs121909748dbSNPEnsembl.1
Natural variantiVAR_063662323K → Q in AHUS4. 1 Publication1
Natural variantiVAR_063663458M → I in AHUS4. 1 PublicationCorresponds to variant rs200837114dbSNPEnsembl.1
Natural variantiVAR_063664533K → R in AHUS4. 1 PublicationCorresponds to variant rs149101394dbSNPEnsembl.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.
MalaCardsiCFB.
MIMi603075. phenotype.
612924. phenotype.
615561. phenotype.
OpenTargetsiENSG00000239754.
ENSG00000241534.
ENSG00000242335.
ENSG00000243570.
ENSG00000243649.
Orphaneti279. Age-related macular degeneration.
93578. Atypical hemolytic-uremic syndrome with B factor anomaly.
PharmGKBiPA25341.

Chemistry databases

ChEMBLiCHEMBL5731.
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...)4 Publications1
Disulfide bondi131 ↔ 1581 Publication
Glycosylationi142N-linked (GlcNAc...)3 Publications1
Disulfide bondi165 ↔ 2051 Publication
Disulfide bondi191 ↔ 2181 Publication
Glycosylationi285N-linked (GlcNAc...)4 Publications1
Glycosylationi291N-linked (Glc) (glycation)1 Publication1
Glycosylationi378N-linked (GlcNAc...)4 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

MaxQBiP00751.
PaxDbiP00751.
PeptideAtlasiP00751.
PRIDEiP00751.

2D gel databases

DOSAC-COBS-2DPAGEP00751.
REPRODUCTION-2DPAGEP00751.
SWISS-2DPAGEP00751.

PTM databases

iPTMnetiP00751.
PhosphoSitePlusiP00751.

Expressioni

Gene expression databases

BgeeiENSG00000239754.
CleanExiHS_CFB.
ExpressionAtlasiP00751. baseline and differential.
GenevisibleiP00751. HS.

Organism-specific databases

HPAiCAB016381.
HPA001817.
HPA001832.

Interactioni

Subunit structurei

Monomer.1 Publication

GO - Molecular functioni

  • complement binding Source: UniProtKB

Protein-protein interaction databases

BioGridi107098. 15 interactors.
DIPiDIP-38319N.
IntActiP00751. 5 interactors.
MINTiMINT-3003542.
STRINGi9606.ENSP00000416561.

Chemistry databases

BindingDBiP00751.

Structurei

Secondary structure

1764
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi47 – 51Combined sources5
Helixi53 – 55Combined sources3
Beta strandi56 – 61Combined sources6
Beta strandi66 – 70Combined sources5
Beta strandi72 – 76Combined sources5
Beta strandi80 – 82Combined sources3
Beta strandi88 – 90Combined sources3
Beta strandi92 – 94Combined sources3
Beta strandi97 – 100Combined sources4
Beta strandi112 – 115Combined sources4
Beta strandi119 – 122Combined sources4
Beta strandi126 – 131Combined sources6
Beta strandi136 – 139Combined sources4
Beta strandi141 – 145Combined sources5
Beta strandi151 – 153Combined sources3
Beta strandi157 – 159Combined sources3
Beta strandi163 – 165Combined sources3
Beta strandi174 – 177Combined sources4
Beta strandi186 – 191Combined sources6
Beta strandi195 – 199Combined sources5
Beta strandi201 – 205Combined sources5
Beta strandi209 – 213Combined sources5
Beta strandi217 – 219Combined sources3
Helixi227 – 238Combined sources12
Helixi240 – 243Combined sources4
Beta strandi269 – 276Combined sources8
Turni279 – 281Combined sources3
Helixi283 – 301Combined sources19
Turni302 – 304Combined sources3
Beta strandi308 – 322Combined sources15
Beta strandi324 – 326Combined sources3
Helixi327 – 330Combined sources4
Helixi332 – 340Combined sources9
Helixi344 – 346Combined sources3
Beta strandi348 – 350Combined sources3
Helixi355 – 366Combined sources12
Beta strandi369 – 372Combined sources4
Helixi377 – 379Combined sources3
Beta strandi381 – 388Combined sources8
Beta strandi394 – 396Combined sources3
Helixi399 – 408Combined sources10
Beta strandi412 – 414Combined sources3
Helixi420 – 422Combined sources3
Beta strandi423 – 429Combined sources7
Beta strandi431 – 433Combined sources3
Helixi436 – 442Combined sources7
Beta strandi452 – 454Combined sources3
Beta strandi455 – 457Combined sources3
Helixi461 – 468Combined sources8
Helixi471 – 474Combined sources4
Beta strandi483 – 485Combined sources3
Helixi489 – 492Combined sources4
Beta strandi496 – 501Combined sources6
Turni504 – 506Combined sources3
Beta strandi509 – 515Combined sources7
Beta strandi517 – 523Combined sources7
Helixi525 – 527Combined sources3
Helixi534 – 536Combined sources3
Beta strandi537 – 541Combined sources5
Beta strandi548 – 555Combined sources8
Turni561 – 564Combined sources4
Helixi565 – 567Combined sources3
Beta strandi578 – 584Combined sources7
Beta strandi598 – 600Combined sources3
Helixi601 – 606Combined sources6
Helixi615 – 622Combined sources8
Beta strandi625 – 638Combined sources14
Beta strandi640 – 648Combined sources9
Helixi653 – 658Combined sources6
Helixi659 – 662Combined sources4
Helixi666 – 668Combined sources3
Helixi672 – 674Combined sources3
Beta strandi680 – 689Combined sources10
Helixi696 – 698Combined sources3
Beta strandi702 – 707Combined sources6
Beta strandi710 – 721Combined sources12
Helixi725 – 727Combined sources3
Turni728 – 730Combined sources3
Helixi735 – 737Combined sources3
Beta strandi739 – 744Combined sources6
Helixi745 – 748Combined sources4
Helixi749 – 755Combined sources7
Turni756 – 758Combined sources3

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[»]
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
Contains 1 peptidase S1 domain.PROSITE-ProRule annotation
Contains 3 Sushi (CCP/SCR) domains.PROSITE-ProRule annotation
Contains 1 VWFA domain.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal, Sushi

Phylogenomic databases

eggNOGiKOG3627. Eukaryota.
COG5640. LUCA.
GeneTreeiENSGT00530000063826.
HOVERGENiHBG002567.
InParanoidiP00751.
KOiK01335.
OMAiCQVTGRW.
OrthoDBiEOG091G02G8.
PhylomeDBiP00751.
TreeFamiTF330194.

Family and domain databases

CDDicd00033. CCP. 3 hits.
cd00190. Tryp_SPc. 1 hit.
Gene3Di3.40.50.410. 1 hit.
InterProiIPR011360. Compl_C2_B.
IPR028341. Complement_B.
IPR009003. Peptidase_S1_PA.
IPR001314. Peptidase_S1A.
IPR000436. Sushi_SCR_CCP_dom.
IPR001254. Trypsin_dom.
IPR018114. TRYPSIN_HIS.
IPR033116. TRYPSIN_SER.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00084. Sushi. 3 hits.
PF00089. Trypsin. 1 hit.
PF00092. VWA. 1 hit.
[Graphical view]
PIRSFiPIRSF001154. Compl_C2_B. 1 hit.
PIRSF500181. Complement_B. 1 hit.
PRINTSiPR00722. CHYMOTRYPSIN.
SMARTiSM00032. CCP. 3 hits.
SM00020. Tryp_SPc. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
SSF53300. SSF53300. 1 hit.
SSF57535. SSF57535. 3 hits.
PROSITEiPS50923. SUSHI. 3 hits.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
PS50234. VWFA. 1 hit.
[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. AlignAdd to basket

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

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 → H.2 PublicationsCorresponds to variant rs4151667dbSNPEnsembl.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 rs641153dbSNPEnsembl.1
Natural variantiVAR_01627532R → W.4 PublicationsCorresponds to variant rs12614dbSNPEnsembl.1
Natural variantiVAR_063659166S → P in AHUS4. 1 Publication1
Natural variantiVAR_063660203R → Q in AHUS4. 1 PublicationCorresponds to variant rs745794224dbSNPEnsembl.1
Natural variantiVAR_063661242I → L in AHUS4. 1 PublicationCorresponds to variant rs144812066dbSNPEnsembl.1
Natural variantiVAR_016276252G → S.1 PublicationCorresponds to variant rs4151651dbSNPEnsembl.1
Natural variantiVAR_063221286F → L in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant rs117905900dbSNPEnsembl.1
Natural variantiVAR_063222323K → E in AHUS4; gain-of-function mutation that results in enhanced formation of the C3bBb. 1 PublicationCorresponds to variant rs121909748dbSNPEnsembl.1
Natural variantiVAR_063662323K → Q in AHUS4. 1 Publication1
Natural variantiVAR_063663458M → I in AHUS4. 1 PublicationCorresponds to variant rs200837114dbSNPEnsembl.1
Natural variantiVAR_063664533K → R in AHUS4. 1 PublicationCorresponds to variant rs149101394dbSNPEnsembl.1
Natural variantiVAR_016277565K → E.2 PublicationsCorresponds to variant rs4151659dbSNPEnsembl.1
Natural variantiVAR_016278651D → E.1 PublicationCorresponds to variant rs4151660dbSNPEnsembl.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.
AL844853 Genomic DNA. Translation: CAI41860.1.
AL662849 Genomic DNA. Translation: CAI17456.1.
BX005143 Genomic DNA. Translation: CAM25864.1.
CR759782 Genomic DNA. Translation: CAQ07113.1.
CR388219 Genomic DNA. Translation: CAQ07483.1.
AK223400 mRNA. Translation: BAD97120.1.
AL645922 Genomic DNA. Translation: CAQ09274.1.
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

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.
AL844853 Genomic DNA. Translation: CAI41860.1.
AL662849 Genomic DNA. Translation: CAI17456.1.
BX005143 Genomic DNA. Translation: CAM25864.1.
CR759782 Genomic DNA. Translation: CAQ07113.1.
CR388219 Genomic DNA. Translation: CAQ07483.1.
AK223400 mRNA. Translation: BAD97120.1.
AL645922 Genomic DNA. Translation: CAQ09274.1.
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[»]
ProteinModelPortaliP00751.
SMRiP00751.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107098. 15 interactors.
DIPiDIP-38319N.
IntActiP00751. 5 interactors.
MINTiMINT-3003542.
STRINGi9606.ENSP00000416561.

Chemistry databases

BindingDBiP00751.
ChEMBLiCHEMBL5731.
GuidetoPHARMACOLOGYi2339.

Protein family/group databases

MEROPSiS01.196.

PTM databases

iPTMnetiP00751.
PhosphoSitePlusiP00751.

Polymorphism and mutation databases

BioMutaiCFB.
DMDMi584908.

2D gel databases

DOSAC-COBS-2DPAGEP00751.
REPRODUCTION-2DPAGEP00751.
SWISS-2DPAGEP00751.

Proteomic databases

MaxQBiP00751.
PaxDbiP00751.
PeptideAtlasiP00751.
PRIDEiP00751.

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.
GeneCardsiCFB.
GeneReviewsiCFB.
H-InvDBHIX0038706.
HGNCiHGNC:1037. CFB.
HPAiCAB016381.
HPA001817.
HPA001832.
MalaCardsiCFB.
MIMi138470. gene.
603075. phenotype.
612924. phenotype.
615561. phenotype.
neXtProtiNX_P00751.
OpenTargetsiENSG00000239754.
ENSG00000241534.
ENSG00000242335.
ENSG00000243570.
ENSG00000243649.
Orphaneti279. Age-related macular degeneration.
93578. Atypical hemolytic-uremic syndrome with B factor anomaly.
PharmGKBiPA25341.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3627. Eukaryota.
COG5640. LUCA.
GeneTreeiENSGT00530000063826.
HOVERGENiHBG002567.
InParanoidiP00751.
KOiK01335.
OMAiCQVTGRW.
OrthoDBiEOG091G02G8.
PhylomeDBiP00751.
TreeFamiTF330194.

Enzyme and pathway databases

BioCyciZFISH:HS09369-MONOMER.
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.

Miscellaneous databases

ChiTaRSiCFB. human.
EvolutionaryTraceiP00751.
GeneWikiiComplement_factor_B.
GenomeRNAii629.
PROiP00751.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000239754.
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.
InterProiIPR011360. Compl_C2_B.
IPR028341. Complement_B.
IPR009003. Peptidase_S1_PA.
IPR001314. Peptidase_S1A.
IPR000436. Sushi_SCR_CCP_dom.
IPR001254. Trypsin_dom.
IPR018114. TRYPSIN_HIS.
IPR033116. TRYPSIN_SER.
IPR002035. VWF_A.
[Graphical view]
PfamiPF00084. Sushi. 3 hits.
PF00089. Trypsin. 1 hit.
PF00092. VWA. 1 hit.
[Graphical view]
PIRSFiPIRSF001154. Compl_C2_B. 1 hit.
PIRSF500181. Complement_B. 1 hit.
PRINTSiPR00722. CHYMOTRYPSIN.
SMARTiSM00032. CCP. 3 hits.
SM00020. Tryp_SPc. 1 hit.
SM00327. VWA. 1 hit.
[Graphical view]
SUPFAMiSSF50494. SSF50494. 1 hit.
SSF53300. SSF53300. 1 hit.
SSF57535. SSF57535. 3 hits.
PROSITEiPS50923. SUSHI. 3 hits.
PS50240. TRYPSIN_DOM. 1 hit.
PS00134. TRYPSIN_HIS. 1 hit.
PS00135. TRYPSIN_SER. 1 hit.
PS50234. VWFA. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: October 1, 1994
Last modified: November 30, 2016
This is version 216 of the entry and version 2 of the sequence. [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 6
    Human chromosome 6: 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
  6. Peptidase families
    Classification of peptidase families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.