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UniProtKB - P00746 (CFAD_HUMAN)

Protein

Complement factor D

Gene

CFD

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

Functioni

Factor D cleaves factor B when the latter is complexed with factor C3b, activating the C3bbb complex, which then becomes the C3 convertase of the alternate pathway. Its function is homologous to that of C1s in the classical pathway.

Catalytic activityi

Selective cleavage of Arg-|-Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei66Charge relay system1
Active sitei114Charge relay system1
Active sitei208Charge relay system1

GO - Molecular functioni

  • serine-type endopeptidase activity Source: Reactome
  • serine-type peptidase activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionHydrolase, Protease, Serine protease
Biological processComplement alternate pathway, Immunity, Innate immunity

Enzyme and pathway databases

BRENDAi3.4.21.46 2681
ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-173736 Alternative complement activation
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

MEROPSiS01.191

Names & Taxonomyi

Protein namesi
Recommended name:
Complement factor D (EC:3.4.21.46)
Alternative name(s):
Adipsin
C3 convertase activator
Properdin factor D
Gene namesi
Name:CFD
Synonyms:DF, PFD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000197766.7
HGNCiHGNC:2771 CFD
MIMi134350 gene
neXtProtiNX_P00746

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

Complement factor D deficiency (CFDD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.
See also OMIM:613912
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034866213V → G in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606720EnsemblClinVar.1
Natural variantiVAR_034867214C → R in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606721EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1675
MalaCardsiCFD
MIMi613912 phenotype
OpenTargetsiENSG00000197766
Orphaneti169467 Recurrent Neisseria infections due to factor D deficiency
PharmGKBiPA142

Chemistry databases

ChEMBLiCHEMBL2176771
DrugBankiDB03058 2-Aminobenzyl alcohol
GuidetoPHARMACOLOGYi2842

Polymorphism and mutation databases

BioMutaiCFD
DMDMi158515408

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
PropeptideiPRO_000002756021 – 25Activation peptideSequence analysis5
ChainiPRO_000002756126 – 253Complement factor DAdd BLAST228

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi51 ↔ 67
Disulfide bondi148 ↔ 214
Disulfide bondi179 ↔ 195
Disulfide bondi204 ↔ 229

Keywords - PTMi

Disulfide bond, Zymogen

Proteomic databases

PaxDbiP00746
PeptideAtlasiP00746
PRIDEiP00746
ProteomicsDBi51276

PTM databases

iPTMnetiP00746
PhosphoSitePlusiP00746

Expressioni

Gene expression databases

BgeeiENSG00000197766 Expressed in 194 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_CFD
ExpressionAtlasiP00746 baseline and differential
GenevisibleiP00746 HS

Organism-specific databases

HPAiHPA052799

Interactioni

Protein-protein interaction databases

BioGridi108039, 2 interactors
IntActiP00746, 2 interactors
STRINGi9606.ENSP00000332139

Chemistry databases

BindingDBiP00746

Structurei

Secondary structure

1253
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP00746
SMRiP00746
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP00746

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini26 – 253Peptidase S1PROSITE-ProRule annotationAdd BLAST228

Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00760000118895
HOVERGENiHBG013304
InParanoidiP00746
KOiK01334
OrthoDBiEOG091G0DF7
PhylomeDBiP00746
TreeFamiTF333630

Family and domain databases

CDDicd00190 Tryp_SPc, 1 hit
InterProiView protein in InterPro
IPR037561 Complement_factor_D
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
PANTHERiPTHR43890:SF17 PTHR43890:SF17, 1 hit
PfamiView protein in Pfam
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
PROSITEiView protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit

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 1 potential isoform that is computationally mapped.Show allAlign All

P00746-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MHSWERLAVL VLLGAAACAA PPRGRILGGR EAEAHARPYM ASVQLNGAHL 
        60         70         80         90        100
CGGVLVAEQW VLSAAHCLED AADGKVQVLL GAHSLSQPEP SKRLYDVLRA 
       110        120        130        140        150
VPHPDSQPDT IDHDLLLLQL SEKATLGPAV RPLPWQRVDR DVAPGTLCDV 
       160        170        180        190        200
AGWGIVNHAG RRPDSLQHVL LPVLDRATCN RRTHHDGAIT ERLMCAESNR 
       210        220        230        240        250
RDSCKGDSGG PLVCGGVLEG VVTSGSRVCG NRKKPGIYTR VASYAAWIDS 

VLA
Length:253
Mass (Da):27,033
Last modified:September 11, 2007 - v5
Checksum:i78B06C209DEEA362
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ERG9K7ERG9_HUMAN
Complement factor D
CFD
260Annotation score:

Sequence cautioni

The sequence AAA35527 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21P → R in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti26I → M in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti35H → F AA sequence (PubMed:6987665).Curated1
Sequence conflicti40M → V AA sequence (PubMed:6987665).Curated1
Sequence conflicti49H → E AA sequence (PubMed:6363133).Curated1
Sequence conflicti49H → E AA sequence (PubMed:6821372).Curated1
Sequence conflicti52G → A in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti59Q → R in AAA35527 (PubMed:1374388).Curated1
Sequence conflicti63S → T AA sequence (PubMed:6363133).Curated1
Sequence conflicti73D → G AA sequence (PubMed:6363133).Curated1
Sequence conflicti83 – 86HSLS → THLP AA sequence (PubMed:6383466).Curated4
Sequence conflicti83 – 84HS → ST AA sequence (PubMed:6363133).Curated2
Sequence conflicti94 – 95Missing AA sequence (PubMed:6363133).Curated2
Sequence conflicti96D → E AA sequence (PubMed:6363133).Curated1
Sequence conflicti136Q → G AA sequence (PubMed:6363133).Curated1
Sequence conflicti178 – 191TCNRR…GAITE → KCRLYDVL AA sequence (PubMed:6363133).CuratedAdd BLAST14
Sequence conflicti243S → T AA sequence (PubMed:6383466).Curated1
Sequence conflicti250S → H AA sequence (PubMed:6383466).Curated1
Sequence conflicti250Missing AA sequence (PubMed:6363133).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034866213V → G in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606720EnsemblClinVar.1
Natural variantiVAR_034867214C → R in CFDD. 1 PublicationCorresponds to variant dbSNP:rs267606721EnsemblClinVar.1
Natural variantiVAR_034868248I → M. Corresponds to variant dbSNP:rs2230216Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ313463 mRNA Translation: CAC48304.1
AK300963 mRNA Translation: BAG62588.1
CH471139 Genomic DNA Translation: EAW69588.1
BC034529 mRNA Translation: AAH34529.1
BC040146 mRNA Translation: AAH40146.1
BC051001 mRNA Translation: AAH51001.1
BC057807 mRNA Translation: AAH57807.1
M84526 mRNA Translation: AAA35527.1 Different initiation.
CCDSiCCDS12046.1
PIRiA40197 DBHU
RefSeqiNP_001304264.1, NM_001317335.1
NP_001919.2, NM_001928.3
UniGeneiHs.155597

Genome annotation databases

EnsembliENST00000327726; ENSP00000332139; ENSG00000197766
ENST00000617994; ENSP00000478745; ENSG00000274619
GeneIDi1675
KEGGihsa:1675
UCSCiuc002lqc.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

CFDbase

CFD mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ313463 mRNA Translation: CAC48304.1
AK300963 mRNA Translation: BAG62588.1
CH471139 Genomic DNA Translation: EAW69588.1
BC034529 mRNA Translation: AAH34529.1
BC040146 mRNA Translation: AAH40146.1
BC051001 mRNA Translation: AAH51001.1
BC057807 mRNA Translation: AAH57807.1
M84526 mRNA Translation: AAA35527.1 Different initiation.
CCDSiCCDS12046.1
PIRiA40197 DBHU
RefSeqiNP_001304264.1, NM_001317335.1
NP_001919.2, NM_001928.3
UniGeneiHs.155597

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BIOX-ray1.50A26-253[»]
1DFPX-ray2.40A/B26-253[»]
1DICX-ray1.80A26-253[»]
1DSTX-ray2.00A26-253[»]
1DSUX-ray2.00A/B26-253[»]
1FDPX-ray2.10A/B/C/D19-253[»]
1HFDX-ray2.30A26-253[»]
2XW9X-ray1.20A26-253[»]
2XWAX-ray2.80A/B26-253[»]
2XWBX-ray3.49I/J26-253[»]
4CBNX-ray1.80A/B26-253[»]
4CBOX-ray1.80A/B26-253[»]
4D9RX-ray2.42A/B26-253[»]
5FBEX-ray1.43A26-253[»]
5FBIX-ray1.47A26-253[»]
5FCKX-ray1.86A26-253[»]
5MT0X-ray1.29A26-253[»]
5MT4X-ray1.65A26-253[»]
5NARX-ray1.55A26-253[»]
5NATX-ray1.17A26-253[»]
5NAWX-ray1.25A26-253[»]
5NB6X-ray1.75A26-253[»]
5NB7X-ray1.33A26-253[»]
5NBAX-ray1.87A26-253[»]
5TCAX-ray3.15A/B/C/D/E/F/G26-253[»]
5TCCX-ray3.37A/B/C/D/E/F/G26-253[»]
6FTYX-ray1.67A26-253[»]
6FTZX-ray1.67A26-253[»]
6FUGX-ray2.21A/B/C/D/E/F26-253[»]
6FUHX-ray1.37A26-253[»]
6FUIX-ray1.38A26-253[»]
6FUJX-ray2.25A/B/C/D/E/F26-253[»]
6FUTX-ray1.50A26-253[»]
ProteinModelPortaliP00746
SMRiP00746
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108039, 2 interactors
IntActiP00746, 2 interactors
STRINGi9606.ENSP00000332139

Chemistry databases

BindingDBiP00746
ChEMBLiCHEMBL2176771
DrugBankiDB03058 2-Aminobenzyl alcohol
GuidetoPHARMACOLOGYi2842

Protein family/group databases

MEROPSiS01.191

PTM databases

iPTMnetiP00746
PhosphoSitePlusiP00746

Polymorphism and mutation databases

BioMutaiCFD
DMDMi158515408

Proteomic databases

PaxDbiP00746
PeptideAtlasiP00746
PRIDEiP00746
ProteomicsDBi51276

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000327726; ENSP00000332139; ENSG00000197766
ENST00000617994; ENSP00000478745; ENSG00000274619
GeneIDi1675
KEGGihsa:1675
UCSCiuc002lqc.4 human

Organism-specific databases

CTDi1675
DisGeNETi1675
EuPathDBiHostDB:ENSG00000197766.7
GeneCardsiCFD
HGNCiHGNC:2771 CFD
HPAiHPA052799
MalaCardsiCFD
MIMi134350 gene
613912 phenotype
neXtProtiNX_P00746
OpenTargetsiENSG00000197766
Orphaneti169467 Recurrent Neisseria infections due to factor D deficiency
PharmGKBiPA142
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3627 Eukaryota
COG5640 LUCA
GeneTreeiENSGT00760000118895
HOVERGENiHBG013304
InParanoidiP00746
KOiK01334
OrthoDBiEOG091G0DF7
PhylomeDBiP00746
TreeFamiTF333630

Enzyme and pathway databases

BRENDAi3.4.21.46 2681
ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-173736 Alternative complement activation
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRSiCFD human
EvolutionaryTraceiP00746
GenomeRNAii1675
PROiPR:P00746
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000197766 Expressed in 194 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_CFD
ExpressionAtlasiP00746 baseline and differential
GenevisibleiP00746 HS

Family and domain databases

CDDicd00190 Tryp_SPc, 1 hit
InterProiView protein in InterPro
IPR037561 Complement_factor_D
IPR009003 Peptidase_S1_PA
IPR001314 Peptidase_S1A
IPR001254 Trypsin_dom
IPR018114 TRYPSIN_HIS
IPR033116 TRYPSIN_SER
PANTHERiPTHR43890:SF17 PTHR43890:SF17, 1 hit
PfamiView protein in Pfam
PF00089 Trypsin, 1 hit
PRINTSiPR00722 CHYMOTRYPSIN
SMARTiView protein in SMART
SM00020 Tryp_SPc, 1 hit
SUPFAMiSSF50494 SSF50494, 1 hit
PROSITEiView protein in PROSITE
PS50240 TRYPSIN_DOM, 1 hit
PS00134 TRYPSIN_HIS, 1 hit
PS00135 TRYPSIN_SER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCFAD_HUMAN
AccessioniPrimary (citable) accession number: P00746
Secondary accession number(s): B4DV76
, Q5U5S1, Q86VJ5, Q8N4E0, Q8WZB4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: September 11, 2007
Last modified: September 12, 2018
This is version 197 of the entry and version 5 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, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Peptidase families
    Classification of peptidase families and list of entries
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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