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    CFP complement factor properdin [ Homo sapiens (human) ]

    Gene ID: 5199, updated on 9-Jul-2017
    Official Symbol
    CFPprovided by HGNC
    Official Full Name
    complement factor properdinprovided by HGNC
    Primary source
    HGNC:HGNC:8864
    See related
    Ensembl:ENSG00000126759 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]
    Orthologs
    Location:
    Xp11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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, ETS transcription factor Neighboring gene ubiquitously expressed prefoldin like chaperone Neighboring gene UXT antisense RNA 1

    • 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 Jun 15 11:32:44 2016

    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

    • Complement Activation, organism-specific biosystem (from WikiPathways)
      Complement Activation, organism-specific biosystemThe complement system is a biochemical cascade that helps, or complements, the ability of antibodies to clear pathogens from an organism. It is part of the immune system called the innate immune syst...
    • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
      Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
      Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
    • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
      Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
    • 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...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • 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.
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • 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 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    protein O-linked fucosylation TAS
    Traceable Author Statement
    more info
     
    regulation of complement activation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    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 
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    properdin
    Names
    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 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001145252.1NP_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)
      BC015756, DB146591, X57748
      Consensus CDS
      CCDS14282.1
      UniProtKB/Swiss-Prot
      P27918
      UniProtKB/TrEMBL
      A0A0S2Z4I5
      Related
      ENSP00000380189.3, OTTHUMP00000023223, ENST00000396992.7, 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 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 Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017029575.1XP_016885064.1  properdin isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

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