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Entry version 212 (12 Aug 2020)
Sequence version 2 (11 Jan 2011)
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Protein

Complement factor I

Gene

CFI

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Trypsin-like serine protease that plays an essential role in regulating the immune response by controlling all complement pathways. Inhibits these pathways by cleaving three peptide bonds in the alpha-chain of C3b and two bonds in the alpha-chain of C4b thereby inactivating these proteins (PubMed:7360115, PubMed:17320177). Essential cofactors for these reactions include factor H and C4BP in the fluid phase and membrane cofactor protein/CD46 and CR1 on cell surfaces (PubMed:2141838, PubMed:9605165, PubMed:12055245). The presence of these cofactors on healthy cells allows degradation of deposited C3b by CFI in order to prevent undesired complement activation, while in apoptotic cells or microbes, the absence of such cofactors leads to C3b-mediated complement activation and subsequent opsonization (PubMed:28671664).6 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • Inactivates complement subcomponents C3b, iC3b and C4b by proteolytic cleavage. EC:3.4.21.45

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei380Charge relay systemBy similarity1
Active sitei429Charge relay systemBy similarity1
Active sitei525Charge relay systemBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi239 – 2531Combined sources1 PublicationAdd BLAST15
Calcium bindingi276 – 2902Combined sources1 PublicationAdd BLAST15

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Protease, Serine protease
Biological processComplement pathway, Host-virus interaction, Immunity, Innate immunity
LigandCalcium, Metal-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.4.21.45, 2681

Pathway Commons web resource for biological pathway data

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PathwayCommonsi
P05156

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-977606, Regulation of Complement cascade

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P05156

Protein family/group databases

MEROPS protease database

More...
MEROPSi
S01.199

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Complement factor I (EC:3.4.21.45)
Alternative name(s):
C3B/C4B inactivator
Cleaved into the following 2 chains:
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CFI
Synonyms:IF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000205403.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:5394, CFI

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
217030, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P05156

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hemolytic uremic syndrome atypical 3 (AHUS3)4 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry. Other genes may play a role in modifying the phenotype.
Disease descriptionAn atypical form of hemolytic uremic syndrome. It is a complex genetic disease characterized by microangiopathic hemolytic anemia, thrombocytopenia, renal failure and absence of episodes of enterocolitis and diarrhea. In contrast to typical hemolytic uremic syndrome, atypical forms have a poorer prognosis, with higher death rates and frequent progression to end-stage renal disease.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06366564P → L in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs773187287Ensembl.1
Natural variantiVAR_063666119G → R in AHUS3 and ARMD13; the mutant is both expressed and secreted at lower levels than wild-type protein; mediates C3 degradation to a lesser extent than that of controls. 2 PublicationsCorresponds to variant dbSNP:rs141853578EnsemblClinVar.1
Natural variantiVAR_063667183H → R in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs75612300EnsemblClinVar.1
Natural variantiVAR_063668287G → R in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs182078921EnsemblClinVar.1
Natural variantiVAR_063669317R → W in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs121964917EnsemblClinVar.1
Natural variantiVAR_030343340I → T in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs769419740Ensembl.1
Natural variantiVAR_063670416I → L in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs61733901EnsemblClinVar.1
Natural variantiVAR_063671519D → N in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs121964918EnsemblClinVar.1
Natural variantiVAR_063672522K → T in AHUS3. 1 Publication1
Natural variantiVAR_030344524D → V in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs121964914EnsemblClinVar.1
Complement factor I deficiency (CFI deficiency)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal recessive condition associated with a propensity to pyogenic infections.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034907243G → D in CFI deficiency. 1 PublicationCorresponds to variant dbSNP:rs121964916EnsemblClinVar.1
Natural variantiVAR_026757418H → L in CFI deficiency. 1 PublicationCorresponds to variant dbSNP:rs121964912EnsemblClinVar.1
Macular degeneration, age-related, 13 (ARMD13)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063666119G → R in AHUS3 and ARMD13; the mutant is both expressed and secreted at lower levels than wild-type protein; mediates C3 degradation to a lesser extent than that of controls. 2 PublicationsCorresponds to variant dbSNP:rs141853578EnsemblClinVar.1

Keywords - Diseasei

Age-related macular degeneration, Disease mutation, Hemolytic uremic syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
3426

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
CFI

MalaCards human disease database

More...
MalaCardsi
CFI
MIMi610984, phenotype
612923, phenotype
615439, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000205403

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
544472, Atypical hemolytic uremic syndrome with complement gene abnormality
244275, De novo thrombotic microangiopathy after kidney transplantation
75376, Familial drusen
244242, HELLP syndrome
200418, Immunodeficiency with factor I anomaly
279, NON RARE IN EUROPE: Age-related macular degeneration

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29641

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P05156, Tbio

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB09130, Copper
DB01593, Zinc
DB14487, Zinc acetate

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
CFI

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373341

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 18Add BLAST18
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002756819 – 583Complement factor IAdd BLAST565
ChainiPRO_000002756919 – 335Complement factor I heavy chainAdd BLAST317
ChainiPRO_0000027570340 – 583Complement factor I light chainAdd BLAST244

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi33 ↔ 255Combined sources2 Publications
Disulfide bondi43 ↔ 54Combined sources2 Publications
Disulfide bondi48 ↔ 59Combined sources2 Publications
Disulfide bondi61 ↔ 93Combined sources2 Publications
Disulfide bondi67 ↔ 86Combined sources2 Publications
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi70N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Disulfide bondi75 ↔ 106Combined sources2 Publications
Glycosylationi103N-linked (GlcNAc...) (complex) asparagineCombined sources5 Publications1
Disulfide bondi141 ↔ 181Combined sources2 Publications
Disulfide bondi154 ↔ 214Combined sources2 Publications
Glycosylationi177N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Disulfide bondi186 ↔ 196Combined sources2 Publications
Disulfide bondi229 ↔ 247Combined sources2 Publications
Disulfide bondi241 ↔ 256Combined sources2 Publications
Disulfide bondi259 ↔ 271Combined sources2 Publications
Disulfide bondi266 ↔ 284Combined sources2 Publications
Disulfide bondi278 ↔ 293Combined sources2 Publications
Disulfide bondi327 ↔ 453Interchain (between heavy and light chains)Combined sources1 Publication
Disulfide bondi365 ↔ 381Combined sources2 Publications
Disulfide bondi373 ↔ 444Combined sources2 Publications
Disulfide bondi453Interchain (with C-327)Combined sources1 Publication
Glycosylationi464N-linked (GlcNAc...) asparagineCombined sources3 Publications1
Disulfide bondi467 ↔ 531Combined sources2 Publications
Glycosylationi494N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Disulfide bondi495 ↔ 510Combined sources2 Publications
Disulfide bondi521 ↔ 550Combined sources2 Publications
Glycosylationi536N-linked (GlcNAc...) asparagineCombined sources2 Publications1

Keywords - PTMi

Cleavage on pair of basic residues, Disulfide bond, Glycoprotein

Proteomic databases

The CPTAC Assay portal

More...
CPTACi
non-CPTAC-1113
non-CPTAC-2659
non-CPTAC-2660

Encyclopedia of Proteome Dynamics

More...
EPDi
P05156

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
P05156

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P05156

MaxQB - The MaxQuant DataBase

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MaxQBi
P05156

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P05156

PeptideAtlas

More...
PeptideAtlasi
P05156

PRoteomics IDEntifications database

More...
PRIDEi
P05156

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
51807

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...
SWISS-2DPAGEi
P05156

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
742, 20 N-Linked glycans (7 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
P05156, 7 sites, 14 N-linked glycans (4 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P05156

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P05156

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P05156

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the liver by hepatocytes (PubMed:6327681). Also present in other cells such as monocytes, fibroblasts or keratinocytes (PubMed:6444659, PubMed:17320177).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000205403, Expressed in liver and 191 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P05156, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P05156, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000205403, Group enriched (kidney, liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer of a light and heavy chains; disulfide-linked. The fully processed and mature protein circulates as a zymogen, and is allosterically activated by substrate-induced remodeling of the active site (PubMed:21768352).

Interacts with C3b (PubMed:9291131, PubMed:28671664).

Interacts with complement factor H (PubMed:9291131, PubMed:28671664).

3 Publications

(Microbial infection) Interacts with Staphylococcus aureus clumping factor A/ClfA; this interaction enhances cleavage of C3b into iC3b by CFI.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
109652, 6 interactors

Protein interaction database and analysis system

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IntActi
P05156, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000378130

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
P05156, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1583
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P05156

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P05156

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini55 – 108Kazal-likePROSITE-ProRule annotationAdd BLAST54
Domaini114 – 212SRCRPROSITE-ProRule annotationAdd BLAST99
Domaini213 – 257LDL-receptor class A 1PROSITE-ProRule annotationAdd BLAST45
Domaini258 – 294LDL-receptor class A 2PROSITE-ProRule annotationAdd BLAST37
Domaini340 – 574Peptidase S1PROSITE-ProRule annotationAdd BLAST235

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase S1 family.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3627, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00930000151042

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P05156

KEGG Orthology (KO)

More...
KOi
K01333

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P05156

TreeFam database of animal gene trees

More...
TreeFami
TF330647

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00112, LDLa, 2 hits
cd00190, Tryp_SPc, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.40.10.10, 1 hit
3.10.250.10, 1 hit
4.10.400.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003884, FacI_MAC
IPR002350, Kazal_dom
IPR036058, Kazal_dom_sf
IPR036055, LDL_receptor-like_sf
IPR023415, LDLR_class-A_CS
IPR002172, LDrepeatLR_classA_rpt
IPR009003, Peptidase_S1_PA
IPR043504, Peptidase_S1_PA_chymotrypsin
IPR001314, Peptidase_S1A
IPR001190, SRCR
IPR017448, SRCR-like_dom
IPR036772, SRCR-like_dom_sf
IPR001254, Trypsin_dom
IPR018114, TRYPSIN_HIS
IPR033116, TRYPSIN_SER

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00057, Ldl_recept_a, 2 hits
PF00530, SRCR, 1 hit
PF00089, Trypsin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00722, CHYMOTRYPSIN

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00057, FIMAC, 1 hit
SM00192, LDLa, 2 hits
SM00202, SR, 1 hit
SM00020, Tryp_SPc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF100895, SSF100895, 1 hit
SSF50494, SSF50494, 1 hit
SSF56487, SSF56487, 1 hit
SSF57424, SSF57424, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51465, KAZAL_2, 1 hit
PS01209, LDLRA_1, 1 hit
PS50068, LDLRA_2, 2 hits
PS50287, SRCR_2, 1 hit
PS50240, TRYPSIN_DOM, 1 hit
PS00134, TRYPSIN_HIS, 1 hit
PS00135, TRYPSIN_SER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

P05156-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKLLHVFLLF LCFHLRFCKV TYTSQEDLVE KKCLAKKYTH LSCDKVFCQP
60 70 80 90 100
WQRCIEGTCV CKLPYQCPKN GTAVCATNRR SFPTYCQQKS LECLHPGTKF
110 120 130 140 150
LNNGTCTAEG KFSVSLKHGN TDSEGIVEVK LVDQDKTMFI CKSSWSMREA
160 170 180 190 200
NVACLDLGFQ QGADTQRRFK LSDLSINSTE CLHVHCRGLE TSLAECTFTK
210 220 230 240 250
RRTMGYQDFA DVVCYTQKAD SPMDDFFQCV NGKYISQMKA CDGINDCGDQ
260 270 280 290 300
SDELCCKACQ GKGFHCKSGV CIPSQYQCNG EVDCITGEDE VGCAGFASVT
310 320 330 340 350
QEETEILTAD MDAERRRIKS LLPKLSCGVK NRMHIRRKRI VGGKRAQLGD
360 370 380 390 400
LPWQVAIKDA SGITCGGIYI GGCWILTAAH CLRASKTHRY QIWTTVVDWI
410 420 430 440 450
HPDLKRIVIE YVDRIIFHEN YNAGTYQNDI ALIEMKKDGN KKDCELPRSI
460 470 480 490 500
PACVPWSPYL FQPNDTCIVS GWGREKDNER VFSLQWGEVK LISNCSKFYG
510 520 530 540 550
NRFYEKEMEC AGTYDGSIDA CKGDSGGPLV CMDANNVTYV WGVVSWGENC
560 570 580
GKPEFPGVYT KVANYFDWIS YHVGRPFISQ YNV
Length:583
Mass (Da):65,750
Last modified:January 11, 2011 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF06070EFE6B572A1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3XAM2G3XAM2_HUMAN
Complement factor I
CFI hCG_21044
576Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7ETH0E7ETH0_HUMAN
Complement factor I
CFI
591Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087X0I2A0A087X0I2_HUMAN
Complement factor I
CFI
378Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6R9Z8D6R9Z8_HUMAN
Complement factor I
CFI
161Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAA68416 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti558V → F in AAA52455 (PubMed:2956252).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06366564P → L in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs773187287Ensembl.1
Natural variantiVAR_063666119G → R in AHUS3 and ARMD13; the mutant is both expressed and secreted at lower levels than wild-type protein; mediates C3 degradation to a lesser extent than that of controls. 2 PublicationsCorresponds to variant dbSNP:rs141853578EnsemblClinVar.1
Natural variantiVAR_063667183H → R in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs75612300EnsemblClinVar.1
Natural variantiVAR_070843188G → A1 Publication1
Natural variantiVAR_034907243G → D in CFI deficiency. 1 PublicationCorresponds to variant dbSNP:rs121964916EnsemblClinVar.1
Natural variantiVAR_063668287G → R in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs182078921EnsemblClinVar.1
Natural variantiVAR_034908300T → ACombined sources2 PublicationsCorresponds to variant dbSNP:rs11098044Ensembl.1
Natural variantiVAR_063669317R → W in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs121964917EnsemblClinVar.1
Natural variantiVAR_030343340I → T in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs769419740Ensembl.1
Natural variantiVAR_063670416I → L in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs61733901EnsemblClinVar.1
Natural variantiVAR_026757418H → L in CFI deficiency. 1 PublicationCorresponds to variant dbSNP:rs121964912EnsemblClinVar.1
Natural variantiVAR_063671519D → N in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs121964918EnsemblClinVar.1
Natural variantiVAR_063672522K → T in AHUS3. 1 Publication1
Natural variantiVAR_030344524D → V in AHUS3. 1 PublicationCorresponds to variant dbSNP:rs121964914EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
Y00318 mRNA Translation: CAA68416.1 Different initiation.
J02770 mRNA Translation: AAA52455.1
AC126283 Genomic DNA No translation available.
AF005095 Genomic DNA Translation: AAC08733.2

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34049.1

Protein sequence database of the Protein Information Resource

More...
PIRi
A29154

NCBI Reference Sequences

More...
RefSeqi
NP_000195.2, NM_000204.4
NP_001317964.1, NM_001331035.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000394634; ENSP00000378130; ENSG00000205403

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3426

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3426

UCSC genome browser

More...
UCSCi
uc003hzr.5, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

CFIbase

CFI mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y00318 mRNA Translation: CAA68416.1 Different initiation.
J02770 mRNA Translation: AAA52455.1
AC126283 Genomic DNA No translation available.
AF005095 Genomic DNA Translation: AAC08733.2
CCDSiCCDS34049.1
PIRiA29154
RefSeqiNP_000195.2, NM_000204.4
NP_001317964.1, NM_001331035.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XRCX-ray2.69A/B/C/D19-583[»]
5O32X-ray2.69D/H19-339[»]
I/J340-583[»]
SMRiP05156
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109652, 6 interactors
IntActiP05156, 9 interactors
STRINGi9606.ENSP00000378130

Chemistry databases

DrugBankiDB09130, Copper
DB01593, Zinc
DB14487, Zinc acetate

Protein family/group databases

MEROPSiS01.199

PTM databases

GlyConnecti742, 20 N-Linked glycans (7 sites)
GlyGeniP05156, 7 sites, 14 N-linked glycans (4 sites)
iPTMnetiP05156
PhosphoSitePlusiP05156
UniCarbKBiP05156

Polymorphism and mutation databases

BioMutaiCFI
DMDMi317373341

2D gel databases

SWISS-2DPAGEiP05156

Proteomic databases

CPTACinon-CPTAC-1113
non-CPTAC-2659
non-CPTAC-2660
EPDiP05156
jPOSTiP05156
MassIVEiP05156
MaxQBiP05156
PaxDbiP05156
PeptideAtlasiP05156
PRIDEiP05156
ProteomicsDBi51807

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
695, 651 antibodies

Genome annotation databases

EnsembliENST00000394634; ENSP00000378130; ENSG00000205403
GeneIDi3426
KEGGihsa:3426
UCSCiuc003hzr.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3426
DisGeNETi3426
EuPathDBiHostDB:ENSG00000205403.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFI
GeneReviewsiCFI
HGNCiHGNC:5394, CFI
HPAiENSG00000205403, Group enriched (kidney, liver)
MalaCardsiCFI
MIMi217030, gene
610984, phenotype
612923, phenotype
615439, phenotype
neXtProtiNX_P05156
OpenTargetsiENSG00000205403
Orphaneti544472, Atypical hemolytic uremic syndrome with complement gene abnormality
244275, De novo thrombotic microangiopathy after kidney transplantation
75376, Familial drusen
244242, HELLP syndrome
200418, Immunodeficiency with factor I anomaly
279, NON RARE IN EUROPE: Age-related macular degeneration
PharmGKBiPA29641

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3627, Eukaryota
GeneTreeiENSGT00930000151042
InParanoidiP05156
KOiK01333
PhylomeDBiP05156
TreeFamiTF330647

Enzyme and pathway databases

BRENDAi3.4.21.45, 2681
PathwayCommonsiP05156
ReactomeiR-HSA-977606, Regulation of Complement cascade
SIGNORiP05156

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
3426, 5 hits in 873 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CFI, human
EvolutionaryTraceiP05156

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Complement_factor_I

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
3426
PharosiP05156, Tbio

Protein Ontology

More...
PROi
PR:P05156
RNActiP05156, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000205403, Expressed in liver and 191 other tissues
ExpressionAtlasiP05156, baseline and differential
GenevisibleiP05156, HS

Family and domain databases

CDDicd00112, LDLa, 2 hits
cd00190, Tryp_SPc, 1 hit
Gene3Di2.40.10.10, 1 hit
3.10.250.10, 1 hit
4.10.400.10, 2 hits
InterProiView protein in InterPro
IPR003884, FacI_MAC
IPR002350, Kazal_dom
IPR036058, Kazal_dom_sf
IPR036055, LDL_receptor-like_sf
IPR023415, LDLR_class-A_CS
IPR002172, LDrepeatLR_classA_rpt
IPR009003, Peptidase_S1_PA
IPR043504, Peptidase_S1_PA_chymotrypsin
IPR001314, Peptidase_S1A
IPR001190, SRCR
IPR017448, SRCR-like_dom
IPR036772, SRCR-like_dom_sf
IPR001254, Trypsin_dom
IPR018114, TRYPSIN_HIS
IPR033116, TRYPSIN_SER
PfamiView protein in Pfam
PF00057, Ldl_recept_a, 2 hits
PF00530, SRCR, 1 hit
PF00089, Trypsin, 1 hit
PRINTSiPR00722, CHYMOTRYPSIN
SMARTiView protein in SMART
SM00057, FIMAC, 1 hit
SM00192, LDLa, 2 hits
SM00202, SR, 1 hit
SM00020, Tryp_SPc, 1 hit
SUPFAMiSSF100895, SSF100895, 1 hit
SSF50494, SSF50494, 1 hit
SSF56487, SSF56487, 1 hit
SSF57424, SSF57424, 2 hits
PROSITEiView protein in PROSITE
PS51465, KAZAL_2, 1 hit
PS01209, LDLRA_1, 1 hit
PS50068, LDLRA_2, 2 hits
PS50287, SRCR_2, 1 hit
PS50240, TRYPSIN_DOM, 1 hit
PS00134, TRYPSIN_HIS, 1 hit
PS00135, TRYPSIN_SER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCFAI_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P05156
Secondary accession number(s): O60442
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 11, 2011
Last modified: August 12, 2020
This is version 212 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Peptidase families
    Classification of peptidase families and list of entries
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families
  6. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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