• Gene id: 3426

Gene Summary

• Gene Symbol: CFI   Gene   UCSC   Ensembl
• Aliases: AHUS3, ARMD13, C3BINA, C3b-INA, FI, IF, KAF
• Gene name: complement factor I
• Alternate names: complement factor I, C3B/C4B inactivator, C3b-inactivator, Konglutinogen-activating factor, complement component I, complement control protein factor I, complement factor I heavy chain, light chain of factor I,
• Gene location: 4q25 (109802039: 109730981)     Exons: 17     NC_000004.12
• Gene summary(Entrez): This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This hete
• OMIM: 603767

SNPs

rs875989885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133555706G>A
NC_000010.10   g.135369210G>A
NG_052008.1   g.17570C>T
NM_130784.3   c.613C>T
NM_130784.2   c.613C>T
NM_001143764.2   c.721C>T
NM_001143764.3   c.721C>T
NM_001143764.1   c.721C>T
NM_001143763.1   c.721C>T
NP_570140.1   p.Gln205Ter
NP_001137  

rs774225566

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.133558953T>C
NC_000010.10   g.135372457T>C
NG_052008.1   g.14323A>G|SEQ=[T/C]|GENE=SYCE1

Protein Summary

• Protein general information: P05156  
  • Name: Complement factor I (EC 3.4.21.45) (C3B/C4B inactivator) [Cleaved into: Complement factor I heavy chain; Complement factor I light chain]
  • Length: 583  
  • Mass: 65750
  • Tissue specificity: Expressed in the liver by hepatocytes (PubMed
• Sequence:

  MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKNGTAVC
  ATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFICKSSWSMREA
  NVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFADVVCYTQKADSPMDD
  FFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNGEVDCITGEDEVGCAGFASVT
  QEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGDLPWQVAIKDASGITCGGIYIGGCWI
  LTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHENYNAGTYQNDIALIEMKKDGNKKDCELPRSI
  PACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVKLISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDS
  GGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYTKVANYFDWISYHVGRPFISQYNV

• Structural information:
  • Protein Domains: (55..10-)
    (/note="Kazal-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00798-)
    (114..21-)
    (/note="SRCR-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00196-)
    (213..25-)
    A (/note="LDL-receptor-class)
    (/evidence="ECO:0000255|PROSITE-Pr-)
  • Interpro: IPR003884  IPR002350  IPR036058  IPR036055  IPR023415   IPR002172  IPR009003  IPR001314  IPR001190  IPR017448  IPR036772  IPR001254  IPR018114  IPR033116  
  • Prosite: PS51465 PS01209 PS50068 PS50287 PS50240 PS00134 PS00135
  • CDD: cd00112 cd00190
  • PDB: 2XRC 5O32
  • PDBsum: 2XRC 5O32
  • STRING: ENSP00000378130
• Other Databases: GeneCards:  CFI  Malacards:  CFI

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005044	scavenger receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0004252	serine-type endopeptidase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
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: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:0030449	regulation of complement activation	TAS	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005615	extracellular space	HDA	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
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Complement regulatory protein defects	KEGG:H00106
Age-related macular degeneration	KEGG:H00821
Atypical hemolytic uremic syndrome	KEGG:H01434
Complement regulatory protein defects	KEGG:H00106
Atypical hemolytic-uremic syndrome	PMID:15173250
Kuhnt-Junius degeneration	PMID:23900096
Macular degeneration	PMID:23685748
Macular degeneration	PMID:22815349
Psoriasis	PMID:2973157
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray