ENSG00000126759


Homo sapiens

Features
Gene ID: ENSG00000126759
  
Biological name :CFP
  
Synonyms : CFP / complement factor properdin / P27918
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 47623172
Gene end: 47630305
  
Corresponding Affymetrix probe sets: 206380_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000247153
Ensembl peptide - ENSP00000418258
Ensembl peptide - ENSP00000380189
Ensembl peptide - ENSP00000366204
NCBI entrez gene - 5199     See in Manteia.
OMIM - 300383
RefSeq - XM_017029575
RefSeq - NM_001145252
RefSeq - NM_002621
RefSeq Peptide - NP_001138724
RefSeq Peptide - NP_002612
swissprot - P27918
swissprot - E9PAQ1
swissprot - C9J7V5
swissprot - A0A0S2Z4I5
Ensembl - ENSG00000126759
  
Related genetic diseases (OMIM): 312060 - Properdin deficiency, X-linked, 312060
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cfpENSDARG00000094451Danio rerio
 si:ch73-237c6.1ENSDARG00000078114Danio rerio
 CfpENSMUSG00000001128Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ADGRB1 / O14514 / adhesion G protein-coupled receptor B1ENSG0000018179031
ADGRB3 / O60242 / adhesion G protein-coupled receptor B3ENSG0000013529829
ADGRB2 / O60241 / adhesion G protein-coupled receptor B2ENSG0000012175329
ADGRF5 / Q8IZF2 / adhesion G protein-coupled receptor F5ENSG0000006912215
ADGRF3 / Q8IZF5 / adhesion G protein-coupled receptor F3ENSG0000017356713
ADGRD2 / Q7Z7M1 / adhesion G protein-coupled receptor D2ENSG0000018026411
ADGRF1 / Q5T601 / adhesion G protein-coupled receptor F1ENSG0000015329210
ADGRF4 / Q8IZF3 / adhesion G protein-coupled receptor F4ENSG000001532947
ADGRF2 / Q8IZF7 / adhesion G protein-coupled receptor F2ENSG000001643936


Protein motifs (from Interpro)
Interpro ID Name
 IPR000884  Thrombospondin type-1 (TSP1) repeat
 IPR036383  Thrombospondin type-1 (TSP1) repeat superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006955 immune response TAS
 biological_processGO:0006956 complement activation TAS
 biological_processGO:0006957 complement activation, alternative pathway TAS
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0036066 protein O-linked fucosylation TAS
 biological_processGO:0042742 defense response to bacterium TAS
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045087 innate immune response IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space TAS
 cellular_componentGO:0005788 endoplasmic reticulum lumen TAS
 cellular_componentGO:0031012 extracellular matrix IDA
 cellular_componentGO:0035580 specific granule lumen TAS
 cellular_componentGO:1904724 tertiary granule lumen TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Alternative complement activation
Activation of C3 and C5
Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Neutrophil degranulation
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0005423 Dysfunctional alternative complement pathway 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / reaction / complex
 ENSG00000126759 CFP / P27918 / complement factor properdin  / -
 ENSG00000106804 C5 / P01031 / complement C5  / reaction
 ENSG00000243649 CFB / P00751 / complement factor B  / complex / reaction






 

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