The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, a... See more...

Aliases for FCN1 Gene

Aliases for FCN1 Gene

  • Ficolin 1 2 3 5
  • FCNM 2 3 4
  • Ficolin (Collagen/Fibrinogen Domain-Containing) 1 2 3
  • Ficolin-Alpha 3 4
  • Ficolin-1 3 4
  • M-Ficolin 3 4
  • Ficolin-A 3 4
  • Ficolin (Collagen/Fibrinogen Domain Containing) 1 2
  • Collagen/Fibrinogen Domain-Containing Protein 1 4
  • FCN1 5

External Ids for FCN1 Gene

Previous GeneCards Identifiers for FCN1 Gene

  • GC09M128951
  • GC09M129570
  • GC09M131324
  • GC09M133240
  • GC09M135027
  • GC09M136940
  • GC09M137801
  • GC09M107265
  • GC09M134905
  • GC09M134942
  • GC09M134958
  • GC09M134970

Summaries for FCN1 Gene

Entrez Gene Summary for FCN1 Gene

  • The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for FCN1 Gene

FCN1 (Ficolin 1) is a Protein Coding gene. Diseases associated with FCN1 include Progressive Relapsing Multiple Sclerosis and Rheumatic Fever. Among its related pathways are Innate Immune System and Creation of C4 and C2 activators. Gene Ontology (GO) annotations related to this gene include calcium ion binding and antigen binding. An important paralog of this gene is FCN2.

UniProtKB/Swiss-Prot Summary for FCN1 Gene

  • Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8 (PubMed:21037097). Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage.

Gene Wiki entry for FCN1 Gene

Additional gene information for FCN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FCN1 Gene

Genomics for FCN1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FCN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J134914 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 606.6 +1.0 1011 2.2 SPI1 GABPA ATF2 MYC MAX FCN1 LOC101448202 FCN2
GH09J134895 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 13.3 +21.1 21111 3.6 PRDM10 ZNF629 ZNF692 ZNF174 PRDM1 ZIC2 ZSCAN4 PATZ1 ZNF501 ZNF600 BRD3 FCN1 LOC100130548 LOC101448202 FCN2
GH09J134983 Enhancer 0.8 Ensembl ENCODE 23.1 -64.3 -64328 3.7 CREB1 CTCF REST RAD21 ZNF512B RUNX3 ZNF444 SMC3 NFXL1 NONO FCN1 FCN2 piR-33422-461 LOC105376313 OLFM1
GH09J134928 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 13.9 -11.9 -11898 2.1 POLR2A EED RUNX3 TCF12 CTCF SPI1 BATF EBF1 BHLHE40 MYC FCN1 piR-39416-049 ENSG00000236403 OLFM1
GH09J134962 Enhancer 0.8 Ensembl CraniofacialAtlas 16.9 -46.8 -46789 9 CTBP1 ESRRA ZBTB17 ZFHX2 KLF9 POLR2A KLF17 EZH2 FEZF1 FOS FCN1 LOC105376313 ENSG00000236403 piR-33422-461 OLFM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FCN1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FCN1

Top Transcription factor binding sites by QIAGEN in the FCN1 gene promoter:
  • FOXD3
  • HSF2
  • POU2F1
  • POU2F1a
  • POU6F1 (c2)
  • RP58
  • RREB-1
  • SEF-1 (1)
  • STAT5B
  • TBP

Genomic Locations for FCN1 Gene

Genomic Locations for FCN1 Gene
chr9:134,903,232-134,917,912
(GRCh38/hg38)
Size:
14,681 bases
Orientation:
Minus strand
chr9:137,801,431-137,809,809
(GRCh37/hg19)
Size:
8,379 bases
Orientation:
Minus strand

Genomic View for FCN1 Gene

Genes around FCN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FCN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FCN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FCN1 Gene

Proteins for FCN1 Gene

  • Protein details for FCN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00602-FCN1_HUMAN
    Recommended name:
    Ficolin-1
    Protein Accession:
    O00602
    Secondary Accessions:
    • Q5VYV5
    • Q92596

    Protein attributes for FCN1 Gene

    Size:
    326 amino acids
    Molecular mass:
    35078 Da
    Quaternary structure:
    • Homotrimer (PubMed:17897951). Interacts with elastin/ELN. Interacts (via Fibrinogen C-terminal domain) with FFAR2. Interacts with CRP; may regulate monocyte activation by FCN1.
    SequenceCaution:
    • Sequence=BAA12120.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FCN1 Gene

neXtProt entry for FCN1 Gene

Post-translational modifications for FCN1 Gene

  • Glycosylation at Asn305
  • Modification sites at PhosphoSitePlus

Other Protein References for FCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FCN1 Gene

Domains & Families for FCN1 Gene

Gene Families for FCN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for FCN1 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Collagen helix repeat
  • Fibrinogen, beta/gamma chain, C-terminal globular
ProtoNet:

Suggested Antigen Peptide Sequences for FCN1 Gene

GenScript: Design optimal peptide antigens:
  • M-ficolin (FCN1_HUMAN)
  • cDNA, FLJ95768, Homo sapiens ficolin (collagen/fibrinogen domain containing) 1(FCN1), mRNA (Q5VYV5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00602

UniProtKB/Swiss-Prot:

FCN1_HUMAN :
  • The fibrinogen C-terminal domain mediates calcium-dependent binding to carbohydrates and tethering to the cell surface in monocytes and granulocytes. The domain undergoes a conformational switch at pH under 6.2, and looses its carbohydrate-binding ability.
  • Belongs to the ficolin lectin family.
Domain:
  • The fibrinogen C-terminal domain mediates calcium-dependent binding to carbohydrates and tethering to the cell surface in monocytes and granulocytes. The domain undergoes a conformational switch at pH under 6.2, and looses its carbohydrate-binding ability.
Family:
  • Belongs to the ficolin lectin family.
genes like me logo Genes that share domains with FCN1: view

Function for FCN1 Gene

Molecular function for FCN1 Gene

UniProtKB/Swiss-Prot Function:
Extracellular lectin functioning as a pattern-recognition receptor in innate immunity. Binds the sugar moieties of pathogen-associated molecular patterns (PAMPs) displayed on microbes and activates the lectin pathway of the complement system. May also activate monocytes through a G protein-coupled receptor, FFAR2, inducing the secretion of interleukin-8/IL-8 (PubMed:21037097). Binds preferentially to 9-O-acetylated 2-6-linked sialic acid derivatives and to various glycans containing sialic acid engaged in a 2-3 linkage.
GENATLAS Biochemistry:
ficolin 1,TGFB1 binding protein,expressed in peripheral leukocytes and lung

Phenotypes From GWAS Catalog for FCN1 Gene

Gene Ontology (GO) - Molecular Function for FCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001664 G protein-coupled receptor binding IPI 21037097
GO:0003823 antigen binding IBA 21873635
GO:0005102 signaling receptor binding IBA 21873635
GO:0005515 protein binding IPI 17581635
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with FCN1: view
genes like me logo Genes that share phenotypes with FCN1: view

Animal Models for FCN1 Gene

MGI Knock Outs for FCN1:
  • Fcnb Fcnb<tm1Yend>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FCN1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FCN1 Gene

Localization for FCN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FCN1 Gene

Secreted. Cell membrane. Peripheral membrane protein. Extracellular side. Note=Found on the monocyte and granulocyte surface (PubMed:20400674).

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FCN1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FCN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FCN1 Gene

Pathways & Interactions for FCN1 Gene

genes like me logo Genes that share pathways with FCN1: view

Gene Ontology (GO) - Biological Process for FCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0002376 immune system process IEA --
GO:0002752 cell surface pattern recognition receptor signaling pathway IMP 21037097
GO:0006956 complement activation TAS --
GO:0007186 G protein-coupled receptor signaling pathway IDA 21037097
genes like me logo Genes that share ontologies with FCN1: view

No data available for SIGNOR curated interactions for FCN1 Gene

Drugs & Compounds for FCN1 Gene

(2) Drugs for FCN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FCN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FCN1: view

Transcripts for FCN1 Gene

mRNA/cDNA for FCN1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FCN1

Alternative Splicing Database (ASD) splice patterns (SP) for FCN1 Gene

No ASD Table

Relevant External Links for FCN1 Gene

GeneLoc Exon Structure for
FCN1

Expression for FCN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FCN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FCN1 Gene

This gene is overexpressed in Whole Blood (x46.5).

Protein differential expression in normal tissues from HIPED for FCN1 Gene

This gene is overexpressed in Monocytes (27.0) and Peripheral blood mononuclear cells (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FCN1 Gene



Protein tissue co-expression partners for FCN1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FCN1

SOURCE GeneReport for Unigene cluster for FCN1 Gene:

Hs.440898

mRNA Expression by UniProt/SwissProt for FCN1 Gene:

O00602-FCN1_HUMAN
Tissue specificity: Peripheral blood leukocytes, monocytes and granulocytes. Also detected in spleen, lung, and thymus, may be due to the presence of tissue macrophages or trapped blood in these tissues. Not detected on lymphocytes.

Evidence on tissue expression from TISSUES for FCN1 Gene

  • Lung(4.5)
  • Blood(4.3)
  • Bone marrow(3.2)
  • Spleen(3)
  • Lymph node(2.8)
  • Intestine(2.7)
  • Liver(2.5)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with FCN1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FCN1 Gene

Orthologs for FCN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FCN1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FCN1 30 31
  • 98.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FCN1 30
  • 80.86 (n)
FCNB 31
  • 63 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia LOC608247 30
  • 78.34 (n)
-- 31
  • 73 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Fcnb 30
  • 76.87 (n)
Mouse
(Mus musculus)
Mammalia Fcnb 30 17 31
  • 76.82 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 64 (a)
ManyToMany
-- 31
  • 64 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 53 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FCN2 30
  • 64.04 (n)
-- 31
  • 57 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 49 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC108470 30
  • 60.82 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5550 30 32
  • 52.82 (n)
CG1791 32
  • 42 (a)
CG30280 32
  • 42 (a)
CG30281 32
  • 42 (a)
CG8642 32
  • 42 (a)
CG9500 32
  • 41 (a)
sca 32
  • 39 (a)
CG41520 31
  • 16 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
ManyToMany
-- 31
  • 45 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
Species where no ortholog for FCN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for FCN1 Gene

ENSEMBL:
Gene Tree for FCN1 (if available)
TreeFam:
Gene Tree for FCN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FCN1: view image

Paralogs for FCN1 Gene

(23) SIMAP similar genes for FCN1 Gene using alignment to 2 proteins:

  • FCN1_HUMAN
  • Q92531_HUMAN
genes like me logo Genes that share paralogs with FCN1: view

Variants for FCN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FCN1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs150625869 Uncertain Significance: not specified 134,909,977(-) A/G MISSENSE_VARIANT
rs772642922 Uncertain Significance: Monoclonal B-Cell Lymphocytosis 134,913,030(-) C/T MISSENSE_VARIANT
VAR_036341 A colorectal cancer sample p.Tyr175Cys
rs56345770 - p.Arg93Gln
rs771359747 - p.Tyr126His

Additional dbSNP identifiers (rs#s) for FCN1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FCN1 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV deletion 23290073
nsv1043726 CNV gain 25217958
nsv1125319 OTHER inversion 24896259
nsv825155 CNV loss 20364138
nsv831753 CNV loss 17160897
nsv951816 CNV deletion 24416366

Variation tolerance for FCN1 Gene

Residual Variation Intolerance Score: 78.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FCN1 Gene

Human Gene Mutation Database (HGMD)
FCN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FCN1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCN1 Gene

Disorders for FCN1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for FCN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
progressive relapsing multiple sclerosis
  • prms
rheumatic fever
  • acute rheumatic fever
hemochromatosis type 2
  • hfe2
mannose-binding lectin deficiency
  • mbld
rheumatic heart disease
  • rheumatic carditis
- elite association - COSMIC cancer census association via MalaCards
Search FCN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FCN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FCN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FCN1 Gene

Publications for FCN1 Gene

  1. Carbohydrate recognition properties of human ficolins: glycan array screening reveals the sialic acid binding specificity of M-ficolin. (PMID: 20032467) Gout E … Thielens NM (The Journal of biological chemistry 2010) 3 4 23
  2. Trivalent recognition unit of innate immunity system: crystal structure of trimeric human M-ficolin fibrinogen-like domain. (PMID: 17148457) Tanio M … Kohno T (The Journal of biological chemistry 2007) 3 4 23
  3. Polymorphisms in the ficolin 1 gene (FCN1) are associated with susceptibility to the development of rheumatoid arthritis. (PMID: 18032536) Vander Cruyssen B … De Keyser F (Rheumatology (Oxford, England) 2007) 3 23 41
  4. Characterization of ficolins as novel elastin-binding proteins and molecular cloning of human ficolin-1. (PMID: 8947836) Harumiya S … Ichijo H (Journal of biochemistry 1996) 3 4 23
  5. Human ficolin: cDNA cloning, demonstration of peripheral blood leucocytes as the major site of synthesis and assignment of the gene to chromosome 9. (PMID: 8573080) Lu J … Reid KB (The Biochemical journal 1996) 2 3 4

Products for FCN1 Gene

  • Boster Bio Antibodies for FCN1
  • Boster Bio ELISA Kits for FCN1

Sources for FCN1 Gene