Gene Gene information from NCBI Gene database.
Entrez ID 2219
Gene name Ficolin 1
Gene symbol FCN1
Synonyms (NCBI Gene)
FCNM
Chromosome 9
Chromosome location 9q34.3
Summary 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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0001664 Function G protein-coupled receptor binding IPI 21037097
GO:0001867 Process Complement activation, lectin pathway IBA
GO:0001867 Process Complement activation, lectin pathway IDA 18204047, 22691502, 23386610
GO:0001867 Process Complement activation, lectin pathway IDA 16116205
GO:0001905 Process Activation of membrane attack complex IDA 18204047
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601252 3623 ENSG00000085265
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00602
Protein name Ficolin-1 (Collagen/fibrinogen domain-containing protein 1) (Ficolin-A) (Ficolin-alpha) (M-ficolin)
Protein 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. Ma
PDB 2D39 , 2JHH , 2JHI , 2JHK , 2JHL , 2JHM , 2WNP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 50 110 Collagen triple helix repeat (20 copies) Repeat
PF00147 Fibrinogen_C 114 326 Fibrinogen beta and gamma chains, C-terminal globular domain Domain
Tissue specificity 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. {ECO:0000269|PubMed:20
Sequence
Sequence length 326
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Lectin pathway of complement activation
Initial triggering of complement
Ficolins bind to repetitive carbohydrate structures on the target cell surface
Neutrophil degranulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
6
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FCN1-related disorder Uncertain significance; Likely benign rs150223979, rs372337686, rs565391562, rs200663920, rs143226419 RCV003397667
RCV003400365
RCV003972002
RCV003932298
RCV003969626
Monoclonal B-Cell Lymphocytosis Uncertain significance rs772642922 RCV000208544
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 39390580
Airway Obstruction Associate 37996869
Arthritis Rheumatoid Associate 32820945
Asthma Stimulate 37996869
Carcinoma Squamous Cell Inhibit 39390580
Coronary Artery Disease Associate 31245869
Cross Infection Associate 32047495
Diabetic Nephropathies Associate 37492198
Fatigue Syndrome Chronic Associate 19015737
Fever Associate 32601370