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Protein

Properdin

Gene

CFP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

A positive regulator of the alternate pathway of complement. It binds to and stabilizes the C3- and C5-convertase enzyme complexes.1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processComplement alternate pathway, Immunity, Innate immunity

Enzyme and pathway databases

ReactomeiR-HSA-173736 Alternative complement activation
R-HSA-174577 Activation of C3 and C5
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-977606 Regulation of Complement cascade

Names & Taxonomyi

Protein namesi
Recommended name:
Properdin
Alternative name(s):
Complement factor P
Gene namesi
Name:CFP
Synonyms:PFC
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000126759.12
HGNCiHGNC:8864 CFP
MIMi300383 gene
neXtProtiNX_P27918

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Involvement in diseasei

Properdin deficiency (PFD)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionResults in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III).
See also OMIM:312060
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_002002100R → W in PFD; type II. 1 PublicationCorresponds to variant dbSNP:rs132630259EnsemblClinVar.1
Natural variantiVAR_013139298G → V in PFD; type I. 1 PublicationCorresponds to variant dbSNP:rs28935480EnsemblClinVar.1
Natural variantiVAR_002003343Q → R in PFD; type II. 1 Publication1
Natural variantiVAR_002004414Y → D in PFD; type III. 1 PublicationCorresponds to variant dbSNP:rs132630261EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi5199
MalaCardsiCFP
MIMi312060 phenotype
OpenTargetsiENSG00000126759
Orphaneti2966 Properdin deficiency
PharmGKBiPA33206

Polymorphism and mutation databases

BioMutaiCFP
DMDMi464473

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Add BLAST27
ChainiPRO_000003586328 – 469ProperdinAdd BLAST442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi32 ↔ 72PROSITE-ProRule annotation
Disulfide bondi43 ↔ 75PROSITE-ProRule annotation
Glycosylationi83C-linked (Man) tryptophan1 Publication1
Glycosylationi86C-linked (Man) tryptophan1 Publication1
Disulfide bondi89 ↔ 127PROSITE-ProRule annotation
Glycosylationi92O-linked (Fuc...) threonine1 Publication1
Disulfide bondi93 ↔ 133PROSITE-ProRule annotation
Disulfide bondi104 ↔ 111PROSITE-ProRule annotation
Glycosylationi139C-linked (Man) tryptophan1 Publication1
Glycosylationi142C-linked (Man) tryptophan1 Publication1
Glycosylationi145C-linked (Man) tryptophan1 Publication1
Disulfide bondi148 ↔ 184PROSITE-ProRule annotation
Glycosylationi151O-linked (Fuc...) threonine1 Publication1
Disulfide bondi152 ↔ 190PROSITE-ProRule annotation
Disulfide bondi163 ↔ 174PROSITE-ProRule annotation
Glycosylationi196C-linked (Man) tryptophan1 Publication1
Glycosylationi199C-linked (Man) tryptophan1 Publication1
Disulfide bondi205 ↔ 248PROSITE-ProRule annotation
Glycosylationi208O-linked (Fuc...) serine1 Publication1
Disulfide bondi209 ↔ 254PROSITE-ProRule annotation
Disulfide bondi224 ↔ 238PROSITE-ProRule annotation
Glycosylationi260C-linked (Man) tryptophan1 Publication1
Glycosylationi263C-linked (Man) tryptophan1 Publication1
Disulfide bondi269 ↔ 306PROSITE-ProRule annotation
Glycosylationi272O-linked (Fuc...) threonine1 Publication1
Disulfide bondi273 ↔ 312PROSITE-ProRule annotation
Disulfide bondi284 ↔ 296PROSITE-ProRule annotation
Glycosylationi321C-linked (Man) tryptophan1 Publication1
Glycosylationi324C-linked (Man) tryptophan1 Publication1
Disulfide bondi327 ↔ 370PROSITE-ProRule annotation
Disulfide bondi337 ↔ 376PROSITE-ProRule annotation
Disulfide bondi350 ↔ 360PROSITE-ProRule annotation
Glycosylationi382C-linked (Man) tryptophan1 Publication1
Glycosylationi385C-linked (Man) tryptophan1 Publication1
Glycosylationi388C-linked (Man) tryptophan1 Publication1
Disulfide bondi391 ↔ 455PROSITE-ProRule annotation
Disulfide bondi395 ↔ 461PROSITE-ProRule annotation
Disulfide bondi407 ↔ 439PROSITE-ProRule annotation
Glycosylationi428N-linked (GlcNAc...) (complex) asparagine2 Publications1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP27918
PeptideAtlasiP27918
PRIDEiP27918
ProteomicsDBi54426

PTM databases

iPTMnetiP27918
PhosphoSitePlusiP27918

Expressioni

Gene expression databases

BgeeiENSG00000126759 Expressed in 115 organ(s), highest expression level in leukocyte
CleanExiHS_CFP
ExpressionAtlasiP27918 baseline and differential
GenevisibleiP27918 HS

Interactioni

Subunit structurei

In plasma, properdin exists as dimers, trimers or tetramers in the relative proportions of 26:54:20.2 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi111222, 8 interactors
IntActiP27918, 30 interactors
STRINGi9606.ENSP00000247153

Structurei

3D structure databases

ProteinModelPortaliP27918
SMRiP27918
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP27918

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini28 – 76TSP type-1 0PROSITE-ProRule annotationAdd BLAST49
Domaini77 – 134TSP type-1 1PROSITE-ProRule annotationAdd BLAST58
Domaini136 – 191TSP type-1 2PROSITE-ProRule annotationAdd BLAST56
Domaini193 – 255TSP type-1 3PROSITE-ProRule annotationAdd BLAST63
Domaini257 – 313TSP type-1 4PROSITE-ProRule annotationAdd BLAST57
Domaini315 – 377TSP type-1 5PROSITE-ProRule annotationAdd BLAST63
Domaini379 – 462TSP type-1 6PROSITE-ProRule annotationAdd BLAST84

Domaini

TSP type-1 domains 0 and 6 bind to each other and mediate multimerization.

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiENOG410IUGK Eukaryota
ENOG410ZHSM LUCA
GeneTreeiENSGT00930000150838
HOGENOMiHOG000231326
HOVERGENiHBG008263
InParanoidiP27918
KOiK15412
OMAiVEEKRPC
OrthoDBiEOG091G07MO
PhylomeDBiP27918
TreeFamiTF315491

Family and domain databases

Gene3Di2.20.100.10, 6 hits
InterProiView protein in InterPro
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PfamiView protein in Pfam
PF00090 TSP_1, 6 hits
SMARTiView protein in SMART
SM00209 TSP1, 6 hits
SUPFAMiSSF82895 SSF82895, 6 hits
PROSITEiView protein in PROSITE
PS50092 TSP1, 6 hits

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P27918-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MITEGAQAPR LLLPPLLLLL TLPATGSDPV LCFTQYEESS GKCKGLLGGG
60 70 80 90 100
VSVEDCCLNT AFAYQKRSGG LCQPCRSPRW SLWSTWAPCS VTCSEGSQLR
110 120 130 140 150
YRRCVGWNGQ CSGKVAPGTL EWQLQACEDQ QCCPEMGGWS GWGPWEPCSV
160 170 180 190 200
TCSKGTRTRR RACNHPAPKC GGHCPGQAQE SEACDTQQVC PTHGAWATWG
210 220 230 240 250
PWTPCSASCH GGPHEPKETR SRKCSAPEPS QKPPGKPCPG LAYEQRRCTG
260 270 280 290 300
LPPCPVAGGW GPWGPVSPCP VTCGLGQTME QRTCNHPVPQ HGGPFCAGDA
310 320 330 340 350
TRTHICNTAV PCPVDGEWDS WGEWSPCIRR NMKSISCQEI PGQQSRGRTC
360 370 380 390 400
RGRKFDGHRC AGQQQDIRHC YSIQHCPLKG SWSEWSTWGL CMPPCGPNPT
410 420 430 440 450
RARQRLCTPL LPKYPPTVSM VEGQGEKNVT FWGRPLPRCE ELQGQKLVVE
460
EKRPCLHVPA CKDPEEEEL
Length:469
Mass (Da):51,276
Last modified:February 1, 1994 - v2
Checksum:i5EB42B63F0283917
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PAQ1E9PAQ1_HUMAN
Properdin
CFP
415Annotation score:
C9J7V5C9J7V5_HUMAN
Properdin
CFP
167Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0358133T → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_02039553V → M1 PublicationCorresponds to variant dbSNP:rs8177068Ensembl.1
Natural variantiVAR_002002100R → W in PFD; type II. 1 PublicationCorresponds to variant dbSNP:rs132630259EnsemblClinVar.1
Natural variantiVAR_020396204P → L1 PublicationCorresponds to variant dbSNP:rs8177076Ensembl.1
Natural variantiVAR_020397250G → S1 PublicationCorresponds to variant dbSNP:rs8177077Ensembl.1
Natural variantiVAR_013139298G → V in PFD; type I. 1 PublicationCorresponds to variant dbSNP:rs28935480EnsemblClinVar.1
Natural variantiVAR_002003343Q → R in PFD; type II. 1 Publication1
Natural variantiVAR_002004414Y → D in PFD; type III. 1 PublicationCorresponds to variant dbSNP:rs132630261EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X57748 mRNA Translation: CAA40914.1
X70872 Genomic DNA Translation: CAA50220.1
M83652 mRNA Translation: AAA36489.1
AF005664 Genomic DNA Translation: AAB63279.1
AF005665 Genomic DNA Translation: AAB63280.1
AF005666 Genomic DNA Translation: AAC51626.1
AF005668, AF005667 Genomic DNA Translation: AAB62886.1
AY297813 Genomic DNA Translation: AAP43692.1
AL009172 Genomic DNA No translation available.
BC015756 mRNA Translation: AAH15756.1
CCDSiCCDS14282.1
PIRiS29126
RefSeqiNP_001138724.1, NM_001145252.1
NP_002612.1, NM_002621.2
UniGeneiHs.53155

Genome annotation databases

EnsembliENST00000247153; ENSP00000247153; ENSG00000126759
ENST00000396992; ENSP00000380189; ENSG00000126759
GeneIDi5199
KEGGihsa:5199
UCSCiuc004dig.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

CFPbase

CFP mutation db

SeattleSNPs
Wikipedia

Properdin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X57748 mRNA Translation: CAA40914.1
X70872 Genomic DNA Translation: CAA50220.1
M83652 mRNA Translation: AAA36489.1
AF005664 Genomic DNA Translation: AAB63279.1
AF005665 Genomic DNA Translation: AAB63280.1
AF005666 Genomic DNA Translation: AAC51626.1
AF005668, AF005667 Genomic DNA Translation: AAB62886.1
AY297813 Genomic DNA Translation: AAP43692.1
AL009172 Genomic DNA No translation available.
BC015756 mRNA Translation: AAH15756.1
CCDSiCCDS14282.1
PIRiS29126
RefSeqiNP_001138724.1, NM_001145252.1
NP_002612.1, NM_002621.2
UniGeneiHs.53155

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1W0RX-ray-A/B28-469[»]
1W0SX-ray-A/B/C28-469[»]
ProteinModelPortaliP27918
SMRiP27918
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111222, 8 interactors
IntActiP27918, 30 interactors
STRINGi9606.ENSP00000247153

PTM databases

iPTMnetiP27918
PhosphoSitePlusiP27918

Polymorphism and mutation databases

BioMutaiCFP
DMDMi464473

Proteomic databases

PaxDbiP27918
PeptideAtlasiP27918
PRIDEiP27918
ProteomicsDBi54426

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000247153; ENSP00000247153; ENSG00000126759
ENST00000396992; ENSP00000380189; ENSG00000126759
GeneIDi5199
KEGGihsa:5199
UCSCiuc004dig.5 human

Organism-specific databases

CTDi5199
DisGeNETi5199
EuPathDBiHostDB:ENSG00000126759.12
GeneCardsiCFP
HGNCiHGNC:8864 CFP
MalaCardsiCFP
MIMi300383 gene
312060 phenotype
neXtProtiNX_P27918
OpenTargetsiENSG00000126759
Orphaneti2966 Properdin deficiency
PharmGKBiPA33206
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IUGK Eukaryota
ENOG410ZHSM LUCA
GeneTreeiENSGT00930000150838
HOGENOMiHOG000231326
HOVERGENiHBG008263
InParanoidiP27918
KOiK15412
OMAiVEEKRPC
OrthoDBiEOG091G07MO
PhylomeDBiP27918
TreeFamiTF315491

Enzyme and pathway databases

ReactomeiR-HSA-173736 Alternative complement activation
R-HSA-174577 Activation of C3 and C5
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-977606 Regulation of Complement cascade

Miscellaneous databases

ChiTaRSiCFP human
EvolutionaryTraceiP27918
GenomeRNAii5199
PROiPR:P27918
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000126759 Expressed in 115 organ(s), highest expression level in leukocyte
CleanExiHS_CFP
ExpressionAtlasiP27918 baseline and differential
GenevisibleiP27918 HS

Family and domain databases

Gene3Di2.20.100.10, 6 hits
InterProiView protein in InterPro
IPR000884 TSP1_rpt
IPR036383 TSP1_rpt_sf
PfamiView protein in Pfam
PF00090 TSP_1, 6 hits
SMARTiView protein in SMART
SM00209 TSP1, 6 hits
SUPFAMiSSF82895 SSF82895, 6 hits
PROSITEiView protein in PROSITE
PS50092 TSP1, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiPROP_HUMAN
AccessioniPrimary (citable) accession number: P27918
Secondary accession number(s): O15134
, O15135, O15136, O75826
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1992
Last sequence update: February 1, 1994
Last modified: November 7, 2018
This is version 179 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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