Human Gene C4BPA (ENST00000367070.8_4) from GENCODE V47lift37
  Description: complement component 4 binding protein alpha (from RefSeq NM_000715.4)
Gencode Transcript: ENST00000367070.8_4
Gencode Gene: ENSG00000123838.11_10
Transcript (Including UTRs)
   Position: hg19 chr1:207,277,578-207,318,317 Size: 40,740 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr1:207,286,371-207,318,062 Size: 31,692 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:207,277,578-207,318,317)mRNA (may differ from genome)Protein (597 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C4BPA_HUMAN
DESCRIPTION: RecName: Full=C4b-binding protein alpha chain; Short=C4bp; AltName: Full=Proline-rich protein; Short=PRP; Flags: Precursor;
FUNCTION: Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component.
SUBUNIT: Disulfide-linked complex of alpha and beta chains of 3 possible sorts: a 570 kDa complex of 7 alpha chains and 1 beta chain, a 530 kDa homoheptamer of alpha chains or a 500 kDa complex of 6 alpha chains and 1 beta chain. The central body of the alpha chain homopolymer supports tentacles, each with the binding site for C4b at the end.
INTERACTION: P13050:arp4 (xeno); NbExp=5; IntAct=EBI-978348, EBI-978341;
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Chylomicrons in the plasma.
SIMILARITY: Contains 8 Sushi (CCP/SCR) domains.
CAUTION: It is uncertain whether Met-1 or Met-17 is the initiator.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: C4BPA
Diseases sorted by gene-association score: retinitis pigmentosa 45 (13), protein s deficiency (11), retinitis pigmentosa 4, autosomal dominant or recessive (8), arrhythmogenic right ventricular dysplasia 1 (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 262.79 RPKM in Liver
Total median expression: 295.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  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 -62.80223-0.282 Picture PostScript Text
3' UTR -47.60255-0.187 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
IPR000436 - Sushi_SCR_CCP

Pfam Domains:
PF00084 - Sushi repeat (SCR repeat)
PF18453 - Oligomerization domain of C4b-binding protein alpha

SCOP Domains:
57535 - Complement control module/SCR domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2A55 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P04003
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding

Biological Process:
GO:0002376 immune system process
GO:0006958 complement activation, classical pathway
GO:0030449 regulation of complement activation
GO:0045087 innate immune response
GO:0045732 positive regulation of protein catabolic process
GO:0045959 negative regulation of complement activation, classical pathway
GO:1903027 regulation of opsonization

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0044216 other organism cell
GO:0072562 blood microparticle


-  Descriptions from all associated GenBank mRNAs
  AX069419 - Sequence 83 from Patent WO0102600.
AX229788 - Sequence 21 from Patent WO0162968.
BC022312 - Homo sapiens complement component 4 binding protein, alpha, mRNA (cDNA clone MGC:22604 IMAGE:4688428), complete cds.
LP895734 - Sequence 598 from Patent EP3253886.
AK303798 - Homo sapiens cDNA FLJ51598 complete cds, highly similar to C4b-binding protein alpha chain precursor.
AK313164 - Homo sapiens cDNA, FLJ93660, Homo sapiens complement component 4 binding protein, alpha (C4BPA),mRNA.
M31452 - Human proline-rich protein (PRP) mRNA, complete cds.
JD511925 - Sequence 492949 from Patent EP1572962.
AK303793 - Homo sapiens cDNA FLJ51597 complete cds, highly similar to C4b-binding protein alpha chain precursor.
X07853 - Homo sapiens partial mRNA for C4b-binding protein.
AB590286 - Synthetic construct DNA, clone: pFN21AE1333, Homo sapiens C4BPA gene for complement component 4 binding protein, alpha, without stop codon, in Flexi system.
DQ895213 - Synthetic construct Homo sapiens clone IMAGE:100009673; FLH182403.01L; RZPDo839F11137D complement component 4 binding protein, alpha (C4BPA) gene, encodes complete protein.
DQ892021 - Synthetic construct clone IMAGE:100004651; FLH182407.01X; RZPDo839F11138D complement component 4 binding protein, alpha (C4BPA) gene, encodes complete protein.
X02865 - Human mRNA fragment for C4b-binding protein (C4BP).
JD437397 - Sequence 418421 from Patent EP1572962.
JD344388 - Sequence 325412 from Patent EP1572962.
JD091104 - Sequence 72128 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P04003 (Reactome details) participates in the following event(s):

R-HSA-977626 C4b-binding protein binds C4b
R-HSA-981665 C4b binding protein binds Protein S
R-HSA-981637 Complement factor I inactivates C4BP-bound C4b
R-HSA-981658 Complement factor I binds C4BP
R-HSA-977606 Regulation of Complement cascade
R-HSA-166658 Complement cascade
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: C4BP, C4BPA_HUMAN, ENST00000367070.1, ENST00000367070.2, ENST00000367070.3, ENST00000367070.4, ENST00000367070.5, ENST00000367070.6, ENST00000367070.7, NM_000715, P04003, Q5VVQ8, uc318fpl.1, uc318fpl.2
UCSC ID: ENST00000367070.8_4
RefSeq Accession: NM_000715.4
Protein: P04003 (aka C4BPA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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