CFP complement factor properdin [Homo sapiens (human)] - Gene

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; 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

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_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
The Role of Properdin in Killing of Non-Pathogenic Leptospira biflexa.
Title: The Role of Properdin in Killing of Non-Pathogenic Leptospira biflexa.
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.
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.
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.
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.
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.
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.
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	Compare labs

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

NG_009893.1 RefSeqGene

Range

5001..11093

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_129

mRNA and Protein(s)

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
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