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Aliases for FCN1 Gene

Aliases for FCN1 Gene

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

External Ids for FCN1 Gene

Previous GeneCards Identifiers for FCN1 Gene

  • GC09M128951
  • GC09M129570
  • GC09M131324
  • GC09M133240
  • GC09M135027
  • GC09M136940
  • GC09M137801
  • GC09M107265

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 Immune System and Creation of C4 and C2 activators. GO annotations related to this gene include calcium ion binding and antigen binding. An important paralog of this gene is FCN2.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FCN1 Gene

Genomics for FCN1 Gene

Regulatory Elements for FCN1 Gene

Enhancers for FCN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F134895 1.6 FANTOM5 Ensembl ENCODE 13.3 +21.2 21152 3.6 ARID4B FEZF1 ZNF2 YY1 FOS DEK MXD4 REST KAT8 MIER3 FCN1 LOC101448202
GH09F134928 1.1 FANTOM5 Ensembl ENCODE 13.8 -11.7 -11666 2.5 CTCF POLR2A BHLHE40 MAX MYC SPI1 FCN1 LOC105376314
GH09F134858 0.9 ENCODE 11.8 +59.4 59354 1.0 TBP PKNOX1 BMI1 RAD21 RCOR1 ETV6 CREM CBFB JUNB TBX21 FCN1 PPP1R26-AS1 FCN2 MIR3689F
GH09F134805 0.9 ENCODE 10.9 +108.6 108565 7.7 HDGF PKNOX1 CBX3 INSM2 ZNF76 KLF17 FEZF1 ZNF2 CBX5 EGR2 WDR5 ENSG00000273249 FCN2 FCN1 ENSG00000273473 LOC100130548 PPP1R26-AS1 COL5A1 RXRA MIR3689C
GH09F134870 0.8 ENCODE 11.4 +46.3 46304 1.9 PKNOX1 POLR2A EED ZNF143 ETV6 CREM STAT1 MTA2 CBFB TRIM22 FCN1 LOC101448202 PIR46191
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FCN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for FCN1 Gene

Chromosome:
9
Start:
134,905,890 bp from pter
End:
134,917,963 bp from pter
Size:
12,074 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 Asn 305
  • Modification sites at PhosphoSitePlus

Other Protein References for FCN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for FCN1 Gene

Domains & Families for FCN1 Gene

Gene Families for FCN1 Gene

Suggested Antigen Peptide Sequences for FCN1 Gene

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.
  • Contains 1 collagen-like domain.
  • Contains 1 fibrinogen C-terminal domain.
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

GENATLAS Biochemistry:
ficolin 1,TGFB1 binding protein,expressed in peripheral leukocytes and lung
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.

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:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 17581635
GO:0008329 signaling pattern recognition receptor activity IMP 21037097
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for FCN1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FCN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005581 collagen trimer IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031232 extrinsic component of external side of plasma membrane IDA 21037097
genes like me logo Genes that share ontologies with FCN1: view

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:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
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

(1) Drugs for FCN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) 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 :
(4) Additional mRNA sequences :
(131) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FCN1 Gene

Ficolin (collagen/fibrinogen domain containing) 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FCN1 Gene

GeneLoc Exon Structure for
FCN1
ECgene alternative splicing isoforms 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, PaxDb, and MOPED for FCN1 Gene



Protein tissue co-expression partners for FCN1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FCN1 Gene:

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.
genes like me logo Genes that share expression patterns with FCN1: view

Primer Products

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 34 35
  • 98.26 (n)
cow
(Bos Taurus)
Mammalia FCN1 34
  • 80.86 (n)
FCNB 35
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia LOC608247 34
  • 78.34 (n)
-- 35
  • 73 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fcnb 34
  • 76.87 (n)
mouse
(Mus musculus)
Mammalia Fcnb 34 16 35
  • 76.82 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 53 (a)
OneToMany
chicken
(Gallus gallus)
Aves FCN2 34
  • 64.04 (n)
-- 35
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 49 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC108470 34
  • 60.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5550 36 34
  • 52.82 (n)
CG1791 36
  • 42 (a)
CG30280 36
  • 42 (a)
CG30281 36
  • 42 (a)
CG8642 36
  • 42 (a)
CG9500 36
  • 41 (a)
sca 36
  • 39 (a)
CG41520 35
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
ManyToMany
-- 35
  • 45 (a)
ManyToMany
-- 35
  • 44 (a)
ManyToMany
-- 35
  • 43 (a)
ManyToMany
Species where no ortholog for FCN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FCN1 Gene

Paralogs for FCN1 Gene

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

Variants for FCN1 Gene

Sequence variations from dbSNP and Humsavar for FCN1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
VAR_036341 A colorectal cancer sample
rs772642922 Uncertain significance 134,913,030(+) CCCTC(C/T)GTCCG reference, missense
rs10117466 -- 134,918,015(+) TATGA(G/T)GTCAT upstream-variant-2KB
rs10120023 -- 134,918,413(+) CCATT(C/T)GGTGG upstream-variant-2KB
rs10441778 -- 134,916,437(+) CAGAG(C/T)CCTCC reference, missense

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)

Relevant External Links for FCN1 Gene

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

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

Disorders for FCN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
progressive relapsing multiple sclerosis
  • prms
rheumatic fever
  • acute rheumatic fever
rheumatic heart disease
  • rheumatic congestive heart failure
- elite association - COSMIC cancer census association via MalaCards
Search FCN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FCN1

Genetic Association Database (GAD)
FCN1
Human Genome Epidemiology (HuGE) Navigator
FCN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FCN1
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 N.M. (J. Biol. Chem. 2010) 3 4 22 64
  2. Trivalent recognition unit of innate immunity system: crystal structure of trimeric human M-ficolin fibrinogen-like domain. (PMID: 17148457) Tanio M. … Kohno T. (J. Biol. Chem. 2007) 3 4 22 64
  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) 2007) 3 22 46 64
  4. 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 K.B. (Biochem. J. 1996) 2 3 4 64
  5. Characterization of ficolins as novel elastin-binding proteins and molecular cloning of human ficolin-1. (PMID: 8947836) Harumiya S. … Ichijo H. (J. Biochem. 1996) 3 4 22 64

Products for FCN1 Gene

Sources for FCN1 Gene

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