FCN1 (ficolin 1)

Gene

• 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)

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
GO:0002376	Process	Immune system process	IEA
GO:0002752	Process	Cell surface pattern recognition receptor signaling pathway	IMP	21037097
GO:0002752	Process	Cell surface pattern recognition receptor signaling pathway	NAS	21037097
GO:0003823	Function	Antigen binding	IBA
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	17581635, 19632990, 21037097, 21490156, 27141819
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	NAS	16116205
GO:0005886	Component	Plasma membrane	IDA	21037097
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IDA	16116205
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0007186	Process	G protein-coupled receptor signaling pathway	IDA	21037097
GO:0008228	Process	Opsonization	IDA	3897448, 8538770
GO:0009897	Component	External side of plasma membrane	NAS	16116205
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	28344315
GO:0031012	Component	Extracellular matrix	IBA
GO:0031638	Process	Zymogen activation	IDA	22691502, 23386610
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0032757	Process	Positive regulation of interleukin-8 production	IMP	21037097
GO:0033691	Function	Sialic acid binding	IDA	20032467, 20400674
GO:0033691	Function	Sialic acid binding	IEA
GO:0034394	Process	Protein localization to cell surface	IDA	20400674
GO:0034774	Component	Secretory granule lumen	TAS
GO:0038187	Function	Pattern recognition receptor activity	IDA	20032467, 21037097
GO:0038187	Function	Pattern recognition receptor activity	IMP	21037097
GO:0043654	Process	Recognition of apoptotic cell	IDA	15804047
GO:0045087	Process	Innate immune response	IEA
GO:0046597	Process	Host-mediated suppression of symbiont invasion	IDA	22851708
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047, 22691502
GO:0097367	Function	Carbohydrate derivative binding	IBA
GO:0097367	Function	Carbohydrate derivative binding	IEA
GO:0106139	Component	Symbiont cell surface	IDA	16116205
GO:1903028	Process	Positive regulation of opsonization	IDA	16116205
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS
GO:1905370	Component	Serine-type endopeptidase complex	IDA	16116205

Other IDs

• MIM: 601252
• HGNC: 3623
• e!Ensembl: ENSG00000085265

Protein

• UniProt ID: 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:

  MELSGATMARGLAVLLVLFLHIKNLPAQAADTCPEVKVVGLEGSDKLTILRGCPGLPGAP
  GPKGEAGVIGERGERGLPGAPGKAGPVGPKGDRGEKGMRGEKGDAGQSQSCATGPRNCKD
  LLDRGYFLSGWHTIYLPDCRPLTVLCDMDTDGGGWTVFQRRMDGSVDFYRDWAAYKQGFG
  SQLGEFWLGNDNIHALTAQGSSELRVDLVDFEGNHQFAKYKSFKVADEAEKYKLVLGAFV
  GGSAGNSLTGHNNNFFSTKDQDNDVSSSNCAEKFQGAWWYADCHASNLNGLYLMGPHESY
  ANGINWSAAKGYKYSYKVSEMKVRPA

• Sequence length: 326

Pathways

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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FCN1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monoclonal B-Cell Lymphocytosis	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis	Arthritis	BEFREE	30169661		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	32820945	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	37996869	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30169661		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	27734336		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39390580	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27734336		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28601054		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	27981461		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	28982257		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	31245869		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31245869	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	22940091		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37492198	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	19015737	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	31245869		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	31245869	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	17453718	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28380665		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28601054		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	27981461		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	22941510		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29286103	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28982257		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	36825008	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19539995		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	39390580	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	27981461		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	32047495, 32601370	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28393357		★☆☆☆☆ Found in Text Mining only
MASP2 Deficiency	MASP2 Deficiency	BEFREE	26850322		★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	23944633	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28900133, 30169661		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	28900133	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	32047495	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22848725, 28216633		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	30886860	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	19539995		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	19539995		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28844702		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis Calcium Oxalate	Nephrolithiasis	Pubtator	31694344	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37063877	Associate	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	33591573	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Fever	Rheumatic fever	Pubtator	30619357	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	30619357		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic heart disease	Pubtator	30619357	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18032536, 26464189, 30169661		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	26850322		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	31245869		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	27734336, 29675579		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	28360913		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	28360913		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	30169661		★☆☆☆☆ Found in Text Mining only