Human Gene ENSG00000244255 (ENST00000456570.5) from GENCODE V44
  Description: Belongs to the peptidase S1 family. (from UniProt B4E1Z4)
RefSeq Summary (NM_001710): This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000456570.5
Gencode Gene: ENSG00000244255.5
Transcript (Including UTRs)
   Position: hg38 chr6:31,927,698-31,952,048 Size: 24,351 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg38 chr6:31,927,753-31,952,030 Size: 24,278 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersMicroarray ExpressionRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:31,927,698-31,952,048)mRNA (may differ from genome)Protein (1266 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblExonPrimerGencodeGeneCardsMGIPubMed
UniProtKB

-  Comments and Description Text from UniProtKB
  ID: B4E1Z4_HUMAN
DESCRIPTION: SubName: Full=Complement factor B; SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ55673, highly similar to Complement factor B (EC 3.4.21.47);
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 1 peptidase S1 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.1055-0.347 Picture PostScript Text
3' UTR -2.4018-0.133 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016060 - Complement_control_module
IPR009003 - Pept_cys/ser_Trypsin-like
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A
IPR000436 - Sushi_SCR_CCP
IPR002035 - VWF_A

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)
PF00089 - Trypsin
PF00092 - von Willebrand factor type A domain

ModBase Predicted Comparative 3D Structure on B4E1Z4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis


-  Descriptions from all associated GenBank mRNAs
  AK298808 - Homo sapiens cDNA FLJ54376 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
AK096258 - Homo sapiens cDNA FLJ38939 fis, clone NT2NE2015747, highly similar to COMPLEMENT C2 PRECURSOR (EC 3.4.21.43).
AK298311 - Homo sapiens cDNA FLJ59728 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
M26301 - Huma complement component C2 mRNA, 5' end.
AK312581 - Homo sapiens cDNA, FLJ92956, Homo sapiens complement component 2 (C2), mRNA.
AK304045 - Homo sapiens cDNA FLJ55673 complete cds, highly similar to Complement factor B precursor (EC 3.4.21.47).
BC029781 - Homo sapiens complement component 2, mRNA (cDNA clone IMAGE:5183067), complete cds.
AK300892 - Homo sapiens cDNA FLJ54076 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
X04481 - Human mRNA for complement component C2.
AK307930 - Homo sapiens cDNA, FLJ97878.
AK222537 - Homo sapiens mRNA for complement component 2 precursor variant, clone: adSE01995.
AK300930 - Homo sapiens cDNA FLJ55526 complete cds, highly similar to Complement C2 precursor (EC 3.4.21.43).
BC043484 - Homo sapiens complement component 2, mRNA (cDNA clone MGC:49826 IMAGE:5763774), complete cds.
KJ890790 - Synthetic construct Homo sapiens clone ccsbBroadEn_00184 C2 gene, encodes complete protein.
KR712045 - Synthetic construct Homo sapiens clone CCSBHm_00035064 C2 (C2) mRNA, encodes complete protein.
KR712046 - Synthetic construct Homo sapiens clone CCSBHm_00035065 C2 (C2) mRNA, encodes complete protein.
KR712047 - Synthetic construct Homo sapiens clone CCSBHm_00035066 C2 (C2) mRNA, encodes complete protein.
KR712048 - Synthetic construct Homo sapiens clone CCSBHm_00035067 C2 (C2) mRNA, encodes complete protein.
KR712211 - Synthetic construct Homo sapiens clone CCSBHm_00900164 C2 (C2) mRNA, encodes complete protein.
AK222783 - Homo sapiens mRNA for complement component 2 precursor variant, clone: HEP01788.
BX537504 - Homo sapiens mRNA; cDNA DKFZp779M0311 (from clone DKFZp779M0311).
AK304042 - Homo sapiens cDNA FLJ54899 complete cds, highly similar to Complement factor B precursor (EC 3.4.21.47).
AK130533 - Homo sapiens cDNA FLJ27023 fis, clone SLV06567, highly similar to Complement factor B precursor (EC 3.4.21.47).
BC004143 - Homo sapiens complement factor B, mRNA (cDNA clone MGC:1795 IMAGE:2959705), complete cds.
BC007990 - Homo sapiens complement factor B, mRNA (cDNA clone MGC:4445 IMAGE:2959706), complete cds.
AK223400 - Homo sapiens mRNA for complement factor B preproprotein variant, clone: FCC108A02.
S67310 - Homo sapiens complement factor B mRNA, complete cds.
L15702 - Human complement factor B mRNA, complete cds.
AB590369 - Synthetic construct DNA, clone: pFN21AE1431, Homo sapiens CFB gene for complement factor B, without stop codon, in Flexi system.
DQ895516 - Synthetic construct Homo sapiens clone IMAGE:100009976; FLH185166.01L; RZPDo839G01145D complement factor B (CFB) gene, encodes complete protein.
DQ892313 - Synthetic construct clone IMAGE:100004943; FLH185170.01X; RZPDo839G01146D complement factor B (CFB) gene, encodes complete protein.
CU675885 - Synthetic construct Homo sapiens gateway clone IMAGE:100017807 5' read CFB mRNA.
KJ896493 - Synthetic construct Homo sapiens clone ccsbBroadEn_05887 CFB gene, encodes complete protein.
KR709994 - Synthetic construct Homo sapiens clone CCSBHm_00008801 CFB (CFB) mRNA, encodes complete protein.
KR709995 - Synthetic construct Homo sapiens clone CCSBHm_00008804 CFB (CFB) mRNA, encodes complete protein.
KR709996 - Synthetic construct Homo sapiens clone CCSBHm_00008805 CFB (CFB) mRNA, encodes complete protein.
AF349679 - Homo sapiens factor B (FBI12) mRNA, complete cds, alternatively spliced.
X72875 - H.sapiens mRNA for complement factor B.
X00284 - Human mRNA for complement factor B Ba fragment.
K01566 - Homo sapiens MHC serum complement factor B mRNA, partial cds.
J00126 - Human MHC class III factor B gene, Bb fragment, cDNA clone fb1.
AH001502 - Homo sapiens MHC factor B precursor peptide mRNAs, partial cds.
BC007464 - Homo sapiens cDNA clone IMAGE:3934455, **** WARNING: chimeric clone ****.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04610 - Complement and coagulation cascades

-  Other Names for This Gene
  Alternate Gene Symbols: AK304045, B4E1Z4, B4E1Z4_HUMAN, CFB, ENST00000456570.1, ENST00000456570.2, ENST00000456570.3, ENST00000456570.4, uc011dor.1, uc011dor.2, uc011dor.3, uc011dor.4
UCSC ID: ENST00000456570.5
RefSeq Accession: NM_001710
Protein: B4E1Z4

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.