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Aliases for CFD Gene

Aliases for CFD Gene

  • Complement Factor D (Adipsin) 2 3
  • Properdin Factor D 2 3 4
  • D Component Of Complement (Adipsin) 2 3
  • C3 Convertase Activator 3 4
  • EC 3.4.21.46 4 64
  • ADIPSIN 3 4
  • PFD 3 4
  • ADN 3 6
  • DF 3 4
  • Complement Factor D Preproprotein 3
  • Complement Factor D 3
  • EC 3.4.21 64

External Ids for CFD Gene

Previous Symbols for CFD Gene

  • DF
  • PFD

Summaries for CFD Gene

Entrez Gene Summary for CFD Gene

  • The protein encoded by this gene is a member of the trypsin family of peptidases. The encoded protein is a component of the alternative complement pathway best known for its role in humoral suppression of infectious agents. This protein is also a serine protease that is secreted by adipocytes into the bloodstream. Finally, the encoded protein has a high level of expression in fat, suggesting a role for adipose tissue in immune system biology. [provided by RefSeq, Jul 2008]

GeneCards Summary for CFD Gene

CFD (Complement Factor D (Adipsin)) is a Protein Coding gene. Diseases associated with CFD include complement factor d deficiency and recurrent neisseria infections due to factor d deficiency. Among its related pathways are Hemostasis and Hemostasis. GO annotations related to this gene include serine-type endopeptidase activity and serine-type peptidase activity. An important paralog of this gene is ELANE.

UniProtKB/Swiss-Prot for CFD Gene

  • 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFD Gene

Genomics for CFD Gene

Genomic Location for CFD Gene

Start:
859,643 bp from pter
End:
863,630 bp from pter
Size:
3,988 bases
Orientation:
Plus strand

Genomic View for CFD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFD Gene

Regulatory Elements for CFD Gene

Proteins for CFD Gene

  • Protein details for CFD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00746-CFAD_HUMAN
    Recommended name:
    Complement factor D
    Protein Accession:
    P00746
    Secondary Accessions:
    • B4DV76
    • Q5U5S1
    • Q86VJ5
    • Q8N4E0
    • Q8WZB4

    Protein attributes for CFD Gene

    Size:
    253 amino acids
    Molecular mass:
    27033 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA35527.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CFD Gene

neXtProt entry for CFD Gene

Proteomics data for CFD Gene at MOPED

Selected DME Specific Peptides for CFD Gene

Post-translational modifications for CFD Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys92 and Lys205

Other Protein References for CFD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CFD Gene

Gene Families for CFD Gene

HGNC:

UniProtKB/Swiss-Prot:

CFAD_HUMAN
Domain:
  • Contains 1 peptidase S1 domain.:
    • P00746
Family:
  • Belongs to the peptidase S1 family.:
    • P00746
genes like me logo Genes that share domains with CFD: view

Function for CFD Gene

Molecular function for CFD Gene

UniProtKB/Swiss-Prot CatalyticActivity: Selective cleavage of Arg- -Lys bond in complement factor B when in complex with complement subcomponent C3b or with cobra venom factor
UniProtKB/Swiss-Prot Function: 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

Enzyme Numbers (IUBMB) for CFD Gene

Gene Ontology (GO) - Molecular Function for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IEA --
GO:0008236 serine-type peptidase activity TAS 1374388
genes like me logo Genes that share ontologies with CFD: view

Phenotypes for CFD Gene

genes like me logo Genes that share phenotypes with CFD: view

Animal Models for CFD Gene

MGI Knock Outs for CFD:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for CFD Gene

Localization for CFD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFD Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CFD Gene COMPARTMENTS Subcellular localization image for CFD gene
Compartment Confidence
extracellular 5
mitochondrion 2
nucleus 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0031093 platelet alpha granule lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CFD: view

Pathways for CFD Gene

genes like me logo Genes that share pathways with CFD: view

Pathways by source for CFD Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for CFD Gene
1 Sino Biological pathway for CFD Gene
2 Qiagen pathways for CFD Gene

Gene Ontology (GO) - Biological Process for CFD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006957 complement activation, alternative pathway TAS --
GO:0007596 blood coagulation TAS --
genes like me logo Genes that share ontologies with CFD: view

Compounds for CFD Gene

(2) Drugbank Compounds for CFD Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
3,4-Dichloroisocoumarin
target
Isatoic Anhydride
target

(14) Novoseek inferred chemical compound relationships for CFD Gene

Compound -log(P) Hits PubMed IDs
glycerol 3-phosphate 60.6 4
thiazolidinedione 45.8 1
serine 45.2 14
glucose 41.3 12
ibmx 39.2 1
genes like me logo Genes that share compounds with CFD: view

Transcripts for CFD Gene

mRNA/cDNA for CFD Gene

(1) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(246) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CFD Gene

Complement factor D (adipsin):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CFD Gene

No ASD Table

Relevant External Links for CFD Gene

GeneLoc Exon Structure for
CFD
ECgene alternative splicing isoforms for
CFD

Expression for CFD Gene

mRNA expression in normal human tissues for CFD Gene

mRNA differential expression in normal tissues according to GTEx for CFD Gene

This gene is overexpressed in Adipose - Subcutaneous (5.1) and Adipose - Visceral (Omentum) (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CFD Gene

SOURCE GeneReport for Unigene cluster for CFD Gene Hs.155597

genes like me logo Genes that share expressions with CFD: view

Orthologs for CFD Gene

This gene was present in the common ancestor of chordates.

Orthologs for CFD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CFD 36
  • 98.81 (n)
  • 98.42 (a)
CFD 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 82 (a)
OneToMany
CFD 36
  • 84.08 (n)
  • 81.38 (a)
CFD 37
  • 78 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CFD 36
  • 87.87 (n)
  • 84.1 (a)
CFD 37
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cfd 36
  • 71.18 (n)
  • 66.53 (a)
Cfd 16
Cfd 37
  • 64 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CFD 37
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cfd 36
  • 73.91 (n)
  • 68.38 (a)
chicken
(Gallus gallus)
Aves CFD 36
  • 66.67 (n)
  • 64.08 (a)
CFD 37
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cfd 36
  • 54.07 (n)
  • 52.03 (a)
zebrafish
(Danio rerio)
Actinopterygii cfd 36
  • 50.76 (n)
  • 43.15 (a)
cfd 37
  • 41 (a)
OneToOne
Species with no ortholog for CFD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CFD Gene

ENSEMBL:
Gene Tree for CFD (if available)
TreeFam:
Gene Tree for CFD (if available)

Paralogs for CFD Gene

Paralogs for CFD Gene

genes like me logo Genes that share paralogs with CFD: view

Variants for CFD Gene

Sequence variations from dbSNP and Humsavar for CFD Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs8953 -- 861,770(+) GTGGC(A/G)CCGGG reference, synonymous-codon
rs10506 -- 863,356(+) GAGGC(C/T)GAGGT utr-variant-3-prime
rs1135146 -- 863,388(-) ATCTC(C/G)AACTC utr-variant-3-prime
rs1624707 -- 861,421(-) CAGAG(A/G)TCGAG intron-variant
rs1624783 -- 861,328(-) GGTGC(A/G)GGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFD Gene

Variant ID Type Subtype PubMed ID
nsv470101 CNV Loss 18288195
dgv3508n71 CNV Loss 21882294
dgv3513n71 CNV Loss 21882294
dgv3516n71 CNV Loss 21882294
dgv3549n71 CNV Loss 21882294
dgv3550n71 CNV Loss 21882294
dgv3551n71 CNV Loss 21882294
dgv3552n71 CNV Loss 21882294
nsv910292 CNV Loss 21882294
nsv910310 CNV Loss 21882294
dgv3555n71 CNV Loss 21882294
dgv3558n71 CNV Loss 21882294
nsv910320 CNV Loss 21882294
dgv3559n71 CNV Loss 21882294
dgv3560n71 CNV Loss 21882294
dgv3561n71 CNV Loss 21882294
nsv910329 CNV Loss 21882294
dgv3562n71 CNV Loss 21882294
nsv910332 CNV Loss 21882294
nsv2385 CNV Insertion 18451855

Relevant External Links for CFD Gene

HapMap Linkage Disequilibrium report
CFD
Human Gene Mutation Database (HGMD)
CFD
Locus Specific Mutation Databases (LSDB)
CFD

Disorders for CFD Gene

(1) OMIM Diseases for CFD Gene (134350)

UniProtKB/Swiss-Prot

CFAD_HUMAN
  • Complement factor D deficiency (CFDD) [MIM:613912]: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. {ECO:0000269 PubMed:16527897}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(9) Novoseek inferred disease relationships for CFD Gene

Disease -log(P) Hits PubMed IDs
obesity 47.5 13
renal failure chronic 33.9 2
necrosis 17.9 8
hyperinsulinemia 17.8 2
anorexia nervosa 12 1

Relevant External Links for CFD

Genetic Association Database (GAD)
CFD
Human Genome Epidemiology (HuGE) Navigator
CFD
genes like me logo Genes that share disorders with CFD: view

Publications for CFD Gene

  1. Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue. (PMID: 1374388) White R.T. … Spiegelman B.M. (J. Biol. Chem. 1992) 2 3 4 23
  2. Crystal structure of a complement factor D mutant expressing enhanced catalytic activity. (PMID: 7592653) Kim S. … Volanakis J.E. (J. Biol. Chem. 1995) 3 4 23
  3. Synthesis of factor D by normal human hepatocytes. (PMID: 10971122) Kitano E. … Kitamura H. (Int. Arch. Allergy Immunol. 2000) 3 23
  4. Modest release of adipsin/factor D by liposuction when using the superwet or tumescent technique. (PMID: 9145127) Samdal F. … Truedsson L. (Plast. Reconstr. Surg. 1997) 3 23
  5. Elevated cerebrospinal fluid adiponectin and adipsin levels in patients with multiple sclerosis: a Finnish co-twin study. (PMID: 19538214) Hietaharju A. … Moilanen E. (Eur. J. Neurol. 2010) 3 23

Products for CFD Gene

Sources for CFD Gene

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