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CFP complement factor properdin [ Homo sapiens (human) ]

Gene ID: 5199, updated on 9-Jun-2020

Summary

Official Symbol
CFPprovided by HGNC
Official Full Name
complement factor properdinprovided by HGNC
Primary source
HGNC:HGNC:8864
See related
Ensembl:ENSG00000126759 MIM:300383
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

Genomic context

See CFP in Genome Data Viewer
Location:
Xp11.23
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (47623282..47630305, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (47483612..47489704, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene synapsin I Neighboring gene TIMP metallopeptidase inhibitor 1 Neighboring gene microRNA 4769 Neighboring gene ETS transcription factor ELK1 Neighboring gene ubiquitously expressed prefoldin like chaperone Neighboring gene UXT antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, alternative pathway TAS
Traceable Author Statement
more info
 
defense response to bacterium TAS
Traceable Author Statement
more info
PubMed 
immune response TAS
Traceable Author Statement
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001145252.3NP_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
    P27918
    UniProtKB/TrEMBL
    A0A0S2Z4I5
    Related
    ENSP00000380189.3, ENST00000396992.7
    Conserved Domains (2) summary
    smart00209
    Location:196255
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:140184
    TSP_1; Thrombospondin type 1 domain
  2. NM_002621.2NP_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
    P27918
    UniProtKB/TrEMBL
    A0A0S2Z4I5
    Related
    ENSP00000247153.3, ENST00000247153.7
    Conserved Domains (2) summary
    smart00209
    Location:196255
    TSP1; Thrombospondin type 1 repeats
    pfam00090
    Location:140184
    TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017029575.1XP_016885064.1  properdin isoform X1

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