FCN1 ficolin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FCN1provided by HGNC
Official Full Name: ficolin 1provided by HGNC
Primary source: HGNC:HGNC:3623
See related: Ensembl:ENSG00000085265 MIM:601252; AllianceGenome:HGNC:3623
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FCNM
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 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]
Expression: Biased expression in bone marrow (RPKM 318.5), appendix (RPKM 117.5) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (134903232..134917912, complement)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (147124901..147139590, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (137795078..137809758, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Increased Levels of serum Pentraxin 3 in Critical Coronavirus Disease-2019 Patients.
Title: Increased Levels of serum Pentraxin 3 in Critical Coronavirus Disease-2019 Patients.
M-ficolin: a valuable biomarker to identify leukaemia from juvenile idiopathic arthritis.
Title: M-ficolin: a valuable biomarker to identify leukaemia from juvenile idiopathic arthritis.
FCN1 polymorphisms are not the markers of dental caries susceptibility in Polish children: A case-control study.
Title: FCN1 polymorphisms are not the markers of dental caries susceptibility in Polish children: A case-control study.
Association of ficolin-1 and ficolin-3 gene variation and pulmonary tuberculosis susceptibility in a Chinese population.
Title: Association of ficolin-1 and ficolin-3 gene variation and pulmonary tuberculosis susceptibility in a Chinese population.
Associations of ficolins and mannose-binding lectin with acute myeloid leukaemia in adults.
Title: Associations of ficolins and mannose-binding lectin with acute myeloid leukaemia in adults.
Association between serum ficolin-1 level and disease progression in primary biliary cholangitis.
Title: Association between serum ficolin-1 level and disease progression in primary biliary cholangitis.
Ficolin-1 gene (FCN1) -144 C/A polymorphism is associated with adverse outcome of severe pneumonia in the under-five Egyptian children: A multicenter study.
Title: Ficolin-1 gene (FCN1) -144 C/A polymorphism is associated with adverse outcome of severe pneumonia in the under-five Egyptian children: A multicenter study.
Study of FCN1 promoter polymorphisms in rheumatic fever (RF) and rheumatic heart disease (RHD) patient revealed that minor FCN1 promoter variants may play a protective role against RF, by encouraging bacteria elimination as well as increasing gene expression and protein levels. On the other hand, they may also predispose the patients to RHD symptoms thus emphasizing the dual importance of ficolin-1 in both conditions.
Title: Sickening or Healing the Heart? The Association of Ficolin-1 and Rheumatic Fever.
There is a strong association between serum levels of PTX3, M-ficolin, and SPA with the severity of ischemic stroke. Clinically, such association may be considered to evaluate the severity of the ischemic stroke.
Title: Association of Serum Levels of Pentraxin-3, M-ficolin, and Surfactant Protein A with the Severity of Ischemic Stroke.
These results suggest that FCN1 is a molecular target of intravenous IVIG in KD patients. We propose that these peptides and a humanized monoclonal antibody against FCN1 could be useful in combination therapy with IVIG.
Title: FCN1 (M-ficolin), which directly associates with immunoglobulin G1, is a molecular target of intravenous immunoglobulin therapy for Kawasaki disease.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	HIV-1 gp41 significantly inhibits FCN1 expression in human PBMCs	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-AA037000 (e-PCR)
- UniSTS:32052

MARC_23630-23631:1027528738:1 (e-PCR)
- UniSTS:268727

RH70225 (e-PCR)
- UniSTS:19439

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables carbohydrate derivative binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables pattern recognition receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sialic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface pattern recognition receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell surface pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in complement activation, lectin pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral entry into host cell	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of interleukin-8 production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of opsonization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein localization to cell surface	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in recognition of apoptotic cell	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in external side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
located_in extrinsic component of external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
part_of serine-type endopeptidase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ficolin-1

Names: M-ficolin; ficolin (collagen/fibrinogen domain-containing) 1; ficolin-A; ficolin-alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_046982.2 RefSeqGene

Range

5049..19729

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002003.5 → NP_001994.2 ficolin-1 precursor

See identical proteins and their annotated locations for NP_001994.2

Status: REVIEWED

Source sequence(s)

AK314867, AL353611, AL603650, AL833097, BC020635, DA813504

Consensus CDS

CCDS6985.1

UniProtKB/Swiss-Prot

O00602, Q92596

Related

ENSP00000360871.3, ENST00000371806.4

Conserved Domains (2) summary

pfam01391
Location:51 → 107

Collagen; Collagen triple helix repeat (20 copies)

cd00087
Location:115 → 325

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...