ENSG00000205403


Homo sapiens

Features
Gene ID: ENSG00000205403
  
Biological name :CFI
  
Synonyms : CFI / complement factor I / P05156
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q25
Gene start: 109740694
Gene end: 109802179
  
Corresponding Affymetrix probe sets: 1555564_a_at (Human Genome U133 Plus 2.0 Array)   203854_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000483416
Ensembl peptide - ENSP00000378130
Ensembl peptide - ENSP00000378131
Ensembl peptide - ENSP00000422009
Ensembl peptide - ENSP00000427438
NCBI entrez gene - 3426     See in Manteia.
OMIM - 217030
RefSeq - XM_017008166
RefSeq - NM_001318057
RefSeq - NM_001331035
RefSeq - XM_005262976
RefSeq - XM_006714209
RefSeq - XM_006714210
RefSeq - XM_011531920
RefSeq - XM_017008164
RefSeq - XM_017008165
RefSeq - NM_000204
RefSeq Peptide - NP_001317964
RefSeq Peptide - NP_000195
RefSeq Peptide - NP_001304986
swissprot - E7ETH0
swissprot - A0A087X0I2
swissprot - P05156
swissprot - D6R9Z8
swissprot - G3XAM2
Ensembl - ENSG00000205403
  
Related genetic diseases (OMIM): 610984 - Complement factor I deficiency, 610984
  612923 - {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923
  615439 - {Macular degeneration, age-related, 13, susceptibility to}, 615439
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
 CABZ01073265.1ENSDARG00000099425Danio rerio
 CFIENSGALG00000012126Gallus gallus
 CfiENSMUSG00000058952Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AC126283.2ENSG0000028533090
Q9UL52 / TMPRSS11E / transmembrane serine protease 11EENSG0000008712820
O60235 / TMPRSS11D / transmembrane serine protease 11DENSG0000015380220
Q6ZWK6 / TMPRSS11F / transmembrane serine protease 11FENSG0000019809219
Q6ZMR5 / TMPRSS11A / transmembrane serine protease 11AENSG0000018705418
ACR / P10323 / acrosinENSG0000010031217
Q86T26 / TMPRSS11B / transmembrane serine protease 11BENSG0000018587317
Q86WS5 / TMPRSS12 / transmembrane serine protease 12ENSG0000018645216
P0CW18 / PRSS56 / serine protease 56ENSG0000023741215


Protein motifs (from Interpro)
Interpro ID Name
 IPR001190  SRCR domain
 IPR001254  Serine proteases, trypsin domain
 IPR001314  Peptidase S1A, chymotrypsin family
 IPR002172  Low-density lipoprotein (LDL) receptor class A repeat
 IPR002350  Kazal domain
 IPR003884  Factor I / membrane attack complex
 IPR009003  Peptidase S1, PA clan
 IPR017448  SRCR-like domain
 IPR018114  Serine proteases, trypsin family, histidine active site
 IPR023415  Low-density lipoprotein (LDL) receptor class A, conserved site
 IPR033116  Serine proteases, trypsin family, serine active site
 IPR036055  LDL receptor-like superfamily
 IPR036058  Kazal domain superfamily
 IPR036772  SRCR-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006508 proteolysis IEA
 biological_processGO:0006898 receptor-mediated endocytosis IEA
 biological_processGO:0006958 complement activation, classical pathway IEA
 biological_processGO:0030449 regulation of complement activation TAS
 biological_processGO:0045087 innate immune response IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0004252 serine-type endopeptidase activity TAS
 molecular_functionGO:0005044 scavenger receptor activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008233 peptidase activity IEA
 molecular_functionGO:0008236 serine-type peptidase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Regulation of Complement cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000010 Recurrent urinary tract infections "Repeated infections of the urinary tract." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000099 Glomerulonephritis 
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 HP:0000246 Sinusitis 
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 HP:0000403 Recurrent otitis media 
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 HP:0001369 Arthritis 
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 HP:0001581 Recurrent skin infections "Infections of the skin that happen multiple times." [HPO:curators]
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 HP:0002633 Vasculitis 
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 HP:0003621 Juvenile onset 
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 HP:0005356 Decreased serum complement factor I 
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 HP:0005366 Increased susceptibility to streptococcus pneumoniae infections 
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 HP:0005369 Decreased serum complement factor H 
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 HP:0005376 Increased susceptibility to haemophilus influenzae infections 
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 HP:0005381 Recurrent meningococcal disease "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators]
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 HP:0005416 Decreased serum complement factor B 
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 HP:0005421 Decreased serum complement C3 
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 HP:0006946 Recurrent meningitis 
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 HP:0011108 Recurrent sinusitis "A `recurrent` (PATO:0000427) form of `sinusitis` (HP:0000246)." [HPO:probinson]
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 HP:0012330 Pyelonephritis "An inflammation of the `kidney` (FMA:7203) involving the `parenchyma of kidney` (FMA:15574), the renal pelvis (FMA:15575) and the kidney calices." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000125730 C3 / P01024 / complement C3  / complex / reaction
 ENSG00000000971 CFH / P08603 / complement factor H  / complex / reaction
 ENSG00000123843 C4BPB / P20851 / complement component 4 binding protein beta  / complex / reaction
 ENSG00000117335 CD46 / P15529 / CD46 molecule  / complex / reaction
 ENSG00000203710 CR1 / P17927 / complement C3b/C4b receptor 1 (Knops blood group)  / complex / reaction
 ENSG00000123838 C4BPA / P04003 / complement component 4 binding protein alpha  / complex / reaction
 ENSG00000205403 CFI / P05156 / complement factor I  / complex / reaction
 ENSG00000224389 C4B / P0C0L5 / complement C4B (Chido blood group)  / complex / reaction
 ENSG00000244731 C4A / P0C0L4 / complement C4A (Rodgers blood group)  / complex / reaction






 

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