CFB | ENSG00000243649 | NCBI 629

Details for: CFB

Gene ID: 629

Symbol: CFB

Ensembl ID: ENSG00000243649

Description: complement factor B

Associated with

Activation of c3 and c5
(R-HSA-174577)
Alternative complement activation
(R-HSA-173736)
Complement cascade
(R-HSA-166658)
Immune system
(R-HSA-168256)
Initial triggering of complement
(R-HSA-166663)
Innate immune system
(R-HSA-168249)
Regulation of complement cascade
(R-HSA-977606)
Blood microparticle
(GO:0072562)
Complement activation
(GO:0006956)
Complement activation, alternative pathway
(GO:0006957)
Complement binding
(GO:0001848)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Plasma membrane
(GO:0005886)
Protein binding
(GO:0005515)
Proteolysis
(GO:0006508)
Response to bacterium
(GO:0009617)
Serine-type endopeptidase activity
(GO:0004252)

Other Information

Proteins

Complement factor B

Genular Protein ID: 2397268688

Symbol: CFAB_HUMAN

Name: Complement factor B

UniProtKB Accession Codes:

P00751 B0QZQ6 O15006 Q29944 Q53F89 Q5JP67 Q5ST50 Q96HX6 Q9BTF5 Q9BX92

Database IDs:

Citations:

PubMed ID: 2249879

Title: Molecular characterization of human complement factor B subtypes.

PubMed ID: 2249879

DOI: 10.1007/bf00211644

PubMed ID: 8181962

Title: Human factor B. Complete cDNA sequence of the BF*S allele.

PubMed ID: 8181962

DOI: 10.1016/0198-8859(94)90100-7

PubMed ID: 8225386

Title: Human complement factor B: functional properties of a recombinant zymogen of the alternative activation pathway convertase.

PubMed ID: 8225386

DOI: 10.1016/s0171-2985(11)80231-7

PubMed ID: 8247029

Title: Human complement factor B: cDNA cloning, nucleotide sequencing, phenotypic conversion by site-directed mutagenesis and expression.

PubMed ID: 8247029

DOI: 10.1016/0161-5890(93)90450-p

PubMed ID: 14656967

Title: Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.

PubMed ID: 14656967

DOI: 10.1101/gr.1736803

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6546754

Title: Complete primary structure for the zymogen of human complement factor B.

PubMed ID: 6546754

DOI: 10.1016/s0021-9258(17)43108-5

PubMed ID: 6342610

Title: Amino acid sequence of the Bb fragment from complement Factor B. Sequence of the major cyanogen bromide-cleavage peptide (CB-II) and completion of the sequence of the Bb fragment.

PubMed ID: 6342610

DOI: 10.1042/bj2090061

PubMed ID: 6308626

Title: Molecular cloning and characterization of the gene coding for human complement protein factor B.

PubMed ID: 6308626

DOI: 10.1073/pnas.80.14.4464

PubMed ID: 6957884

Title: Isolation of cDNA clones for the human complement protein factor B, a class III major histocompatibility complex gene product.

PubMed ID: 6957884

DOI: 10.1073/pnas.79.18.5661

PubMed ID: 6323161

Title: Internal homologies of the Ba fragment from human complement component Factor B, a class III MHC antigen.

PubMed ID: 6323161

DOI: 10.1002/j.1460-2075.1984.tb01776.x

PubMed ID: 3643061

Title: Cell-specific expression of the human complement protein factor B gene: evidence for the role of two distinct 5'-flanking elements.

PubMed ID: 3643061

DOI: 10.1016/0092-8674(87)90436-3

PubMed ID: 2006911

Title: The principal site of glycation of human complement factor B.

PubMed ID: 2006911

DOI: 10.1042/bj2740473

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 24152280

Title: Deficiency in complement factor B.

PubMed ID: 24152280

DOI: 10.1056/nejmc1306326

PubMed ID: 10637221

Title: New structural motifs on the chymotrypsin fold and their potential roles in complement factor B.

PubMed ID: 10637221

DOI: 10.1093/emboj/19.2.164

PubMed ID: 17310251

Title: Factor B structure provides insights into activation of the central protease of the complement system.

PubMed ID: 17310251

DOI: 10.1038/nsmb1210

PubMed ID: 19574954

Title: Insights into complement convertase formation based on the structure of the factor B-cobra venom factor complex.

PubMed ID: 19574954

DOI: 10.1038/emboj.2009.184

PubMed ID: 28264884

Title: Functional and structural insight into properdin control of complement alternative pathway amplification.

PubMed ID: 28264884

DOI: 10.15252/embj.201696173

PubMed ID: 31507604

Title: Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System.

PubMed ID: 31507604

DOI: 10.3389/fimmu.2019.02007

PubMed ID: 16518403

Title: Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.

PubMed ID: 16518403

DOI: 10.1038/ng1750

PubMed ID: 17182750

Title: Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome.

PubMed ID: 17182750

DOI: 10.1073/pnas.0603420103

PubMed ID: 20513133

Title: Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

PubMed ID: 20513133

DOI: 10.1002/humu.21256

Sequence Information:

Length: 764
Mass: 85533
Checksum: 8BB6C101CC6AC200
Sequence:

MGSNLSPQLC LMPFILGLLS GGVTTTPWSL ARPQGSCSLE GVEIKGGSFR LLQEGQALEY 
VCPSGFYPYP VQTRTCRSTG SWSTLKTQDQ KTVRKAECRA IHCPRPHDFE NGEYWPRSPY 
YNVSDEISFH CYDGYTLRGS ANRTCQVNGR WSGQTAICDN GAGYCSNPGI PIGTRKVGSQ 
YRLEDSVTYH CSRGLTLRGS QRRTCQEGGS WSGTEPSCQD SFMYDTPQEV AEAFLSSLTE 
TIEGVDAEDG HGPGEQQKRK IVLDPSGSMN IYLVLDGSDS IGASNFTGAK KCLVNLIEKV 
ASYGVKPRYG LVTYATYPKI WVKVSEADSS NADWVTKQLN EINYEDHKLK SGTNTKKALQ 
AVYSMMSWPD DVPPEGWNRT RHVIILMTDG LHNMGGDPIT VIDEIRDLLY IGKDRKNPRE 
DYLDVYVFGV GPLVNQVNIN ALASKKDNEQ HVFKVKDMEN LEDVFYQMID ESQSLSLCGM 
VWEHRKGTDY HKQPWQAKIS VIRPSKGHES CMGAVVSEYF VLTAAHCFTV DDKEHSIKVS 
VGGEKRDLEI EVVLFHPNYN INGKKEAGIP EFYDYDVALI KLKNKLKYGQ TIRPICLPCT 
EGTTRALRLP PTTTCQQQKE ELLPAQDIKA LFVSEEEKKL TRKEVYIKNG DKKGSCERDA 
QYAPGYDKVK DISEVVTPRF LCTGGVSPYA DPNTCRGDSG GPLIVHKRSR FIQVGVISWG 
VVDVCKNQKR QKQVPAHARD FHINLFQVLP WLKEKLQDED LGFL

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: CFB

Associated with

Other Information

Molecular characterization of human complement factor B subtypes. PubMed ID: 2249879

Human factor B. Complete cDNA sequence of the BF*S allele. PubMed ID: 8181962

Human complement factor B: functional properties of a recombinant zymogen of the alternative activation pathway convertase. PubMed ID: 8225386

Human complement factor B: cDNA cloning, nucleotide sequencing, phenotypic conversion by site-directed mutagenesis and expression. PubMed ID: 8247029

Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse. PubMed ID: 14656967

The DNA sequence and analysis of human chromosome 6. PubMed ID: 14574404

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Complete primary structure for the zymogen of human complement factor B. PubMed ID: 6546754

Amino acid sequence of the Bb fragment from complement Factor B. Sequence of the major cyanogen bromide-cleavage peptide (CB-II) and completion of the sequence of the Bb fragment. PubMed ID: 6342610

Molecular cloning and characterization of the gene coding for human complement protein factor B. PubMed ID: 6308626

Isolation of cDNA clones for the human complement protein factor B, a class III major histocompatibility complex gene product. PubMed ID: 6957884

Internal homologies of the Ba fragment from human complement component Factor B, a class III MHC antigen. PubMed ID: 6323161

Cell-specific expression of the human complement protein factor B gene: evidence for the role of two distinct 5'-flanking elements. PubMed ID: 3643061

The principal site of glycation of human complement factor B. PubMed ID: 2006911

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. PubMed ID: 16335952

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

Deficiency in complement factor B. PubMed ID: 24152280

New structural motifs on the chymotrypsin fold and their potential roles in complement factor B. PubMed ID: 10637221

Factor B structure provides insights into activation of the central protease of the complement system. PubMed ID: 17310251

Insights into complement convertase formation based on the structure of the factor B-cobra venom factor complex. PubMed ID: 19574954

Functional and structural insight into properdin control of complement alternative pathway amplification. PubMed ID: 28264884

Structural Basis for Properdin Oligomerization and Convertase Stimulation in the Human Complement System. PubMed ID: 31507604

Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. PubMed ID: 16518403

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. PubMed ID: 17182750

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. PubMed ID: 20513133