Human Gene CFP (uc004dig.4)
  Description: Homo sapiens complement factor properdin (CFP), transcript variant 2, mRNA.
RefSeq Summary (NM_001145252): This gene encodes a plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. This protein binds to many microbial surfaces and apoptotic cells and stabilizes the C3- and C5-convertase enzyme complexes in a feedback loop that ultimately leads to formation of the membrane attack complex and lysis of the target cell. Mutations in this gene result in two forms of properdin deficiency, which results in high susceptibility to meningococcal infections. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Feb 2009].
Transcript (Including UTRs)
   Position: hg19 chrX:47,483,612-47,489,369 Size: 5,758 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chrX:47,483,674-47,489,243 Size: 5,570 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:47,483,612-47,489,369)mRNA (may differ from genome)Protein (469 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PROP_HUMAN
DESCRIPTION: RecName: Full=Properdin; AltName: Full=Complement factor P; Flags: Precursor;
FUNCTION: A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.
SUBCELLULAR LOCATION: Secreted.
DISEASE: Defects in CFP are the cause of properdin deficiency (PFD) [MIM:312060]. PFD results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III).
SIMILARITY: Contains 6 TSP type-1 domains.
SEQUENCE CAUTION: Sequence=CAA15658.1; Type=Erroneous gene model prediction;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFP";
WEB RESOURCE: Name=CFPbase; Note=CFP mutation db; URL="http://bioinf.uta.fi/CFPbase/";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pfc/";
WEB RESOURCE: Name=Wikipedia; Note=Properdin entry; URL="http://en.wikipedia.org/wiki/Properdin";

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CFP
CDC HuGE Published Literature: CFP

-  MalaCards Disease Associations
  MalaCards Gene Search: CFP
Diseases sorted by gene-association score: properdin deficiency, x-linked* (1650), properdin deficiency (51), complement deficiency (36), acute poststreptococcal glomerulonephritis (31), iga glomerulonephritis (23), neisseria meningitidis infection (20), bacterial meningitis (17), meningitis (17), diffuse glomerulonephritis (15), membranoproliferative glomerulonephritis (15), meningococcal meningitis (14), complement factor i deficiency (14), meningococcemia (12), anthracosilicosis (11), peters-plus syndrome (10), ehlers-danlos syndrome, type vii (9), c4b deficiency (9), dissociative amnesia (9), sialolithiasis (9), cicatricial pemphigoid (8), c3 glomerulopathy (8), streptococcal meningitis (7), afibrinogenemia (7), c2 deficiency (7), herpes gestationis (6), c3 deficiency (6), c5 deficiency (6), skeletal tuberculosis (5), nodular nonsuppurative panniculitis (5), 3mc syndrome (5), glomerulonephritis (4)
* = Manually curated disease association

-  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: 109.33 RPKM in Whole Blood
Total median expression: 235.59 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 -42.30126-0.336 Picture PostScript Text
3' UTR -1.2062-0.019 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
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF00090 - Thrombospondin type 1 domain

SCOP Domains:
82895 - TSP-1 type 1 repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1W0R - X-ray 1W0S - X-ray


ModBase Predicted Comparative 3D Structure on P27918
FrontTopSide
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding

Biological Process:
GO:0002376 immune system process
GO:0006508 proteolysis
GO:0006955 immune response
GO:0006956 complement activation
GO:0006957 complement activation, alternative pathway
GO:0030449 regulation of complement activation
GO:0042742 defense response to bacterium
GO:0043312 neutrophil degranulation
GO:0045087 innate immune response

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0035580 specific granule lumen
GO:1904724 tertiary granule lumen
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LF211440 - JP 2014500723-A/18943: Polycomb-Associated Non-Coding RNAs.
BC015756 - Homo sapiens complement factor properdin, mRNA (cDNA clone MGC:23099 IMAGE:4850121), complete cds.
X57748 - Human mRNA for properdin.
M83652 - Homo sapiens complement omponent properdin mRNA, complete cds.
LF379581 - JP 2014500723-A/187084: Polycomb-Associated Non-Coding RNAs.
JD191131 - Sequence 172155 from Patent EP1572962.
JD055695 - Sequence 36719 from Patent EP1572962.
DQ896310 - Synthetic construct Homo sapiens clone IMAGE:100010770; FLH193162.01L; RZPDo839D0568D complement factor properdin (CFP) gene, encodes complete protein.
DQ893460 - Synthetic construct clone IMAGE:100006090; FLH193166.01X; RZPDo839D0578D complement factor properdin (CFP) gene, encodes complete protein.
KJ897318 - Synthetic construct Homo sapiens clone ccsbBroadEn_06712 CFP gene, encodes complete protein.
KR710528 - Synthetic construct Homo sapiens clone CCSBHm_00013807 CFP (CFP) mRNA, encodes complete protein.
KR710529 - Synthetic construct Homo sapiens clone CCSBHm_00013813 CFP (CFP) mRNA, encodes complete protein.
KR710530 - Synthetic construct Homo sapiens clone CCSBHm_00013815 CFP (CFP) mRNA, encodes complete protein.
KU178249 - Homo sapiens complement factor properdin isoform 1 (CFP) mRNA, partial cds.
KU178250 - Homo sapiens complement factor properdin isoform 2 (CFP) mRNA, complete cds, alternatively spliced.
AB590250 - Synthetic construct DNA, clone: pFN21AE1349, Homo sapiens CFP gene for complement factor properdin, without stop codon, in Flexi system.
LF379582 - JP 2014500723-A/187085: Polycomb-Associated Non-Coding RNAs.
AK122955 - Homo sapiens cDNA FLJ16673 fis, clone THYMU3003403, highly similar to Properdin precursor.
AK310695 - Homo sapiens cDNA, FLJ17737.
LF379585 - JP 2014500723-A/187088: Polycomb-Associated Non-Coding RNAs.
CU677429 - Synthetic construct Homo sapiens gateway clone IMAGE:100019549 5' read CFP mRNA.
LF379588 - JP 2014500723-A/187091: Polycomb-Associated Non-Coding RNAs.
JD446652 - Sequence 427676 from Patent EP1572962.
MA447017 - JP 2018138019-A/18943: Polycomb-Associated Non-Coding RNAs.
MA615158 - JP 2018138019-A/187084: Polycomb-Associated Non-Coding RNAs.
MA615159 - JP 2018138019-A/187085: Polycomb-Associated Non-Coding RNAs.
MA615162 - JP 2018138019-A/187088: Polycomb-Associated Non-Coding RNAs.
MA615165 - JP 2018138019-A/187091: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_alternativePathway - Alternative Complement Pathway

Reactome (by CSHL, EBI, and GO)

Protein P27918 (Reactome details) participates in the following event(s):

R-HSA-6798749 Exocytosis of specific granule lumen proteins
R-HSA-6798745 Exocytosis of tertiary granule lumen proteins
R-HSA-5173005 B3GALTL transfers glucose to O-fucosyl-proteins
R-HSA-5173192 POFUT2 transfers fucose to TSR domain-containing proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-168249 Innate Immune System
R-HSA-5173105 O-linked glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-168256 Immune System
R-HSA-597592 Post-translational protein modification
R-HSA-3781865 Diseases of glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001145252, NP_002612, O15134, O15135, O15136, O75826, P27918, PFC, PROP_HUMAN
UCSC ID: uc004dig.4
RefSeq Accession: NM_001145252
Protein: P27918 (aka PROP_HUMAN)
CCDS: CCDS14282.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001145252.1
exon count: 9CDS single in 3' UTR: no RNA size: 1669
ORF size: 1410CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2721.00frame shift in genome: no % Coverage: 95.75
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 61# strange splices: 0
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.