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CFP complement factor properdin [ Homo sapiens (human) ]

Gene ID: 5199, updated on 27-Nov-2024

Summary

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Official Symbol
CFPprovided by HGNC
Official Full Name
complement factor properdinprovided by HGNC
Primary source
HGNC:HGNC:8864
See related
Ensembl:ENSG00000126759 MIM:300383; AllianceGenome:HGNC:8864
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BFD; PFC; PFD; PROPERDIN
Summary
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]
Expression
Biased expression in spleen (RPKM 27.2), bone marrow (RPKM 22.4) and 5 other tissues See more
Orthologs
mouse all
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Genomic context

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See CFP in Genome Data Viewer
Location:
Xp11.23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47623282..47630305, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47033182..47040206, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47482681..47489704, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene synapsin I Neighboring gene Sharpr-MPRA regulatory region 5754 Neighboring gene TIMP metallopeptidase inhibitor 1 Neighboring gene microRNA 4769 Neighboring gene Sharpr-MPRA regulatory region 11481 Neighboring gene ETS transcription factor ELK1 Neighboring gene CRISPRi-FlowFISH-validated PLP2 regulatory element 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:47517923-47518426 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:47518427-47518928 Neighboring gene ubiquitously expressed prefoldin like chaperone Neighboring gene UXT antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The endothelium as physiological source of properdin: role of wall shear stress. Bongrazio M, et al. Mol Immunol, 2003 Jan. PMID 12493642
  2. The role of properdin in zymosan- and Escherichia coli-induced complement activation. Harboe M, et al. J Immunol, 2012 Sep 1. PMID 22851705, Free PMC Article
  3. Elevated properdin and enhanced complement activation in first-degree relatives of South Asian subjects with type 2 diabetes. Somani R, et al. Diabetes Care, 2012 Apr. PMID 22338105, Free PMC Article
  4. A novel mutation W388X underlying properdin deficiency in a Finnish family. Helminen M, et al. Scand J Immunol, 2012 Apr. PMID 22229731, Free PMC Article
  5. An evaluation of the role of properdin in alternative pathway activation on Neisseria meningitidis and Neisseria gonorrhoeae. Agarwal S, et al. J Immunol, 2010 Jul 1. PMID 20530262, Free PMC Article

See all (87) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Properdin produced by dendritic cells contributes to the activation of T cells.
    Title: Properdin produced by dendritic cells contributes to the activation of T cells.
  2. Structure and function of a family of tick-derived complement inhibitors targeting properdin.
    Title: Structure and function of a family of tick-derived complement inhibitors targeting properdin.
  3. The Role of Properdin in Killing of Non-Pathogenic Leptospira biflexa.
    Title: The Role of Properdin in Killing of Non-Pathogenic Leptospira biflexa.
  4. Properdin Is a Modulator of Tumour Immunity in a Syngeneic Mouse Melanoma Model.
    Title: Properdin Is a Modulator of Tumour Immunity in a Syngeneic Mouse Melanoma Model.
  5. Properdin Is a Key Player in Lysis of Red Blood Cells and Complement Activation on Endothelial Cells in Hemolytic Anemias Caused by Complement Dysregulation.
    Title: Properdin Is a Key Player in Lysis of Red Blood Cells and Complement Activation on Endothelial Cells in Hemolytic Anemias Caused by Complement Dysregulation.
  6. Soluble collectin-12 mediates C3-independent docking of properdin that activates the alternative pathway of complement.
    Title: Soluble collectin-12 mediates C3-independent docking of properdin that activates the alternative pathway of complement.
  7. TES-mediated upregulation of the transcription factor DDIT3 is involved in CFP suppression of breast cancer cell growth
    Title: CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3.
  8. Study identified 2 single nucleotide polymorphisms, 1 in the mannose-binding lectin 2 gene (p.Gly54Asp-MBL2) and 1 in the complement factor properdin gene (p.Asn428(p=)-CFP), that showed significant association with the absence and development of antibody-mediated cardiac allograft rejection, respectively.
    Title: Polymorphisms in genes related to the complement system and antibody-mediated cardiac allograft rejection.
  9. Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.
    Title: Compound heterozygous mutations in IL10RA combined with a complement factor properdin mutation in infantile-onset inflammatory bowel disease.
  10. In conclusion, we challenge the view of properdin as a pattern recognition molecule by providing evidence that it binds to different exogenous and endogenous molecular patterns in only a C3-dependent manner.
    Title: Properdin binding to complement activating surfaces depends on initial C3b deposition.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Properdin deficiency, X-linked
MedGen: C1839454 OMIM: 312060 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env A synthetic peptide covering positions 233-251 of the HIV-1 gp120 protein binds to complement proteins C3, C4, C5, C9, and properdin PubMed
env Complement proteins C4, C3d, C5b-9, and properdin bind to HIV-1 gp120-coated CD4+ T cells of healthy individuals when incubated in autologous serum PubMed
Envelope transmembrane glycoprotein gp41 env Preincubation of HIV-1 gp41 with either factor H or properdin, and of HIV-1 gp120 with C3b or C4b affect the interaction between HIV-1 gp41 and gp120 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in complement activation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in defense response to bacterium TAS
Traceable Author Statement
more info
 PubMed 
involved_in immune response TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of opsonization NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
located_in cytoplasmic side of Golgi membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasmic side of Golgi membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  
located_in specific granule lumen TAS
Traceable Author Statement
more info
  
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
properdin
Names
complement factor P
properdin P factor, complement

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009893.1 RefSeqGene

    Range
    5001..11093
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_129

mRNA and Protein(s)

  1. NM_001145252.3 → NP_001138724.1  properdin precursor

    See identical proteins and their annotated locations for NP_001138724.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and represents use of an alternate promoter compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL009172, BC015756, DB146591, X57748
    Consensus CDS
    CCDS14282.1
    UniProtKB/Swiss-Prot
    O15134, O15135, O15136, O75826, P27918
    UniProtKB/TrEMBL
    A0A0S2Z4I5, E9PAQ1
    Related
    ENSP00000380189.3, ENST00000396992.8
    Conserved Domains (2) summary
    smart00209
    Location:196 → 255
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:140 → 184
    TSP_1; Thrombospondin type 1 domain

  2. NM_002621.2 → NP_002612.1  properdin precursor

    See identical proteins and their annotated locations for NP_002612.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL009172, BC015756, X57748
    Consensus CDS
    CCDS14282.1
    UniProtKB/Swiss-Prot
    O15134, O15135, O15136, O75826, P27918
    UniProtKB/TrEMBL
    A0A0S2Z4I5, E9PAQ1
    Related
    ENSP00000247153.3, ENST00000247153.7
    Conserved Domains (2) summary
    smart00209
    Location:196 → 255
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:140 → 184
    TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    47623282..47630305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47033182..47040206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P27918.2 GenPept UniProtKB/Swiss-Prot:P27918

Gene LinkOut

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