• Gene id: 1675

Gene Summary

• Gene Symbol: CFD   Gene   UCSC   Ensembl
• Aliases: ADIPSIN, ADN, DF, PFD
• Gene name: complement factor D
• Alternate names: complement factor D, C3 convertase activator, D component of complement (adipsin), complement factor D preproprotein, properdin factor D,
• Gene location: 19p13.3 (859663: 863640)     Exons: 5     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine,
• OMIM: 134350

Protein Summary

• Protein general information: P00746  
  • Name: Complement factor D (EC 3.4.21.46) (Adipsin) (C3 convertase activator) (Properdin factor D)
  • Length: 253  
  • Mass: 27033
• Sequence:

  MHSWERLAVLVLLGAAACAAPPRGRILGGREAEAHARPYMASVQLNGAHLCGGVLVAEQWVLSAAHCLEDAADGK
  VQVLLGAHSLSQPEPSKRLYDVLRAVPHPDSQPDTIDHDLLLLQLSEKATLGPAVRPLPWQRVDRDVAPGTLCDV
  AGWGIVNHAGRRPDSLQHVLLPVLDRATCNRRTHHDGAITERLMCAESNRRDSCKGDSGGPLVCGGVLEGVVTSG
  SRVCGNRKKPGIYTRVASYAAWIDSVLA

• Structural information:
  • Protein Domains: (26..25-)
    (/note="Peptidase-S1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00274"-)
  • Interpro: IPR037561  IPR009003  IPR001314  IPR001254  IPR018114   IPR033116  
  • Prosite: PS50240 PS00134 PS00135
  • CDD: cd00190
  • PDB: 1BIO 1DFP 1DIC 1DST 1DSU 1FDP 1HFD 2XW9 2XWA 2XWB 4CBN 4CBO 4D9R 5FBE 5FBI 5FCK 5MT0 5MT4 5NAR 5NAT 5NAW 5NB6 5NB7 5NBA 5TCA 5TCC 6FTY 6FTZ 6FUG 6FUH 6FUI 6FUJ 6FUT 6QMR 6QMT
  • PDBsum: 1BIO 1DFP 1DIC 1DST 1DSU 1FDP 1HFD 2XW9 2XWA 2XWB 4CBN 4CBO 4D9R 5FBE 5FBI 5FCK 5MT0 5MT4 5NAR 5NAT 5NAW 5NB6 5NB7 5NBA 5TCA 5TCC 6FTY 6FTZ 6FUG 6FUH 6FUI 6FUJ 6FUT 6QMR 6QMT
  • STRING: ENSP00000332139
• Other Databases: GeneCards:  CFD  Malacards:  CFD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006957	complement activation, alternative pathway	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0006957	complement activation, alternative pathway	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0008236	serine-type peptidase activity	TAS	molecular function
GO:0006508	proteolysis	TAS	biological process
GO:0006956	complement activation	TAS	biological process
GO:0002576	platelet degranulation	TAS	biological process
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006957	complement activation, alternative pathway	TAS	biological process
GO:0034774	secretory granule lumen	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
obesity	PMID:14564690
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray