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CFP complement factor properdin [ Homo sapiens (human) ]

Gene ID: 5199, updated on 21-Dec-2014
Official Symbol
CFPprovided by HGNC
Official Full Name
complement factor properdinprovided by HGNC
Primary source
HGNC:HGNC:8864
See related
Ensembl:ENSG00000126759; HPRD:02308; MIM:300383; Vega:OTTHUMG00000021451
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]
Location:
Xp11.4
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (47624213..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 ELK1, member of ETS oncogene family Neighboring gene ubiquitously-expressed, prefoldin-like chaperone Neighboring gene UXT antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

  • Herpes simplex infection, organism-specific biosystem (from KEGG)
    Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Herpes simplex infection, conserved biosystem (from KEGG)
    Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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 
innate immune response TAS
Traceable Author Statement
more info
 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
properdin
Names
properdin
complement factor P
properdin P factor, complement

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 

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

mRNA and Protein(s)

  1. NM_001145252.1NP_001138724.1  properdin precursor

    See proteins identical to 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)
    BC015756, DB146591, X57748
    Consensus CDS
    CCDS14282.1
    UniProtKB/Swiss-Prot
    P27918
    Related
    ENSP00000380189, OTTHUMP00000023223, ENST00000396992, OTTHUMT00000056435
    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 proteins identical to 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
    Related
    ENSP00000247153, ENST00000247153
    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 Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    47624213..47630305
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    47514712..47520808
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    45196561..45202654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)