F13A1 Gene: Coagulation Factor XIII A Chain
Essential for Blood Clot Stabilization and Wound Healing
Gene Information Card
| Symbol | F13A1 |
|---|---|
| Full Name | coagulation factor XIII A chain |
| Gene Type | protein coding |
| Chromosomal Location | 6p25.1 |
| NCBI Gene ID | 2162 ncbi.nlm.nih.gov/gene/2162 |
| Ensembl ID | ENSG00000124491 |
| UniProt ID | P00488 |
| OMIM ID | 134570 |
| HGNC ID | 3531 |
| Aliases | F13A, MGC160008, MGC160009 |
Description
The F13A1 gene encodes the A subunit of coagulation factor XIII (FXIII), a transglutaminase enzyme crucial for the final stages of blood coagulation. FXIII is a tetramer composed of two A subunits (encoded by F13A1) and two B subunits (encoded by F13B). The A subunit is the catalytic component, responsible for cross-linking fibrin chains, stabilizing the fibrin clot, and protecting it from fibrinolysis. This cross-linking also plays a role in wound healing, tissue repair, and maintaining pregnancy. Mutations in F13A1 lead to factor XIII deficiency, a rare bleeding disorder characterized by delayed bleeding, poor wound healing, and recurrent miscarriages.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Factor XIII Deficiency | Loss-of-function mutations in F13A1 lead to reduced or absent activity of the A subunit, preventing proper fibrin cross-linking and clot stabilization. | ClinVar, OMIM |
| Thrombosis | Certain polymorphisms and elevated levels of F13A1 have been associated with an increased risk of venous thrombosis, though the exact mechanism is complex and may involve altered clot structure. | PubMed, ClinVar |
| Recurrent Pregnancy Loss | Severe FXIII deficiency is linked to recurrent miscarriage, likely due to impaired implantation and inadequate fibrin stabilization at the maternal-fetal interface. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.7 | Low |
| Bone Marrow | 5.2 | Low |
| Spleen | 4.1 | Low |
| Placenta | 3.5 | Low |
| Lung | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (Liver) | 10.1 | Hepatocellular carcinoma cell line |
| K-562 (Bone Marrow) | 6.3 | Chronic myelogenous leukemia cell line |
| THP-1 (Monocyte) | 4.8 | Acute monocytic leukemia cell line |
| A549 (Lung) | 2.5 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.562T>C (p.Trp188Arg) | Missense | Rare | Impairs catalytic activity and protein stability, leading to severe FXIII deficiency. |
| c.1030C>T (p.Arg344Gln) | Missense | Rare | Disrupts the active site, reducing transglutaminase activity. |
| c.1244+1G>A | Splice site | Rare | Causes aberrant splicing, leading to a truncated non-functional protein. |
| c.1468G>A (p.Val490Met) | Missense | Rare | Affects protein folding and secretion, resulting in reduced plasma levels. |
Mutation functional classification
Loss of Function (LOF)
The majority of disease-causing F13A1 mutations are loss-of-function, leading to reduced or absent FXIII activity. This results in impaired fibrin cross-linking and the clinical phenotype of Factor XIII deficiency.
Gain of Function (GOF)
No clear gain-of-function mutations have been identified for F13A1. Some polymorphisms may increase gene expression, but they are not considered classic gain-of-function mutations.
Dominant Negative (DN)
FXIII deficiency is typically inherited in an autosomal recessive manner. However, some missense mutations may exert a dominant-negative effect by interfering with the assembly or function of the tetrameric enzyme, although this is less common.
View complete mutation data：
Gene Ontology (GO)
| • transglutaminase activity | • protein-glutamine gamma-glutamyltransferase activity |
| • calcium ion binding | • fibrinogen binding |
| • blood coagulation | • fibrinolysis |
| • platelet activation | • wound healing |
| • response to wounding |
Pathways
• Complement and coagulation cascades
• Formation of Fibrin Clot (Clotting Cascade)
• Cross-linking of fibrin
Protein Summary
The F13A1 protein is a 83 kDa polypeptide that serves as the catalytic subunit of coagulation factor XIII. It is synthesized primarily by cells of bone marrow origin (megakaryocytes, monocytes) and hepatocytes. The protein contains a transglutaminase domain that catalyzes the formation of isopeptide bonds between glutamine and lysine residues in fibrin, thereby cross-linking the fibrin chains. This process is essential for creating a mechanically stable, protease-resistant clot. The A subunit also interacts with the B subunit to form the circulating heterotetramer (A2B2), which is activated by thrombin and calcium during coagulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| F13A1 Knockout HEK293 Cell Line | EDJ-KQ2320 | Human | 2162 | Details Get a Quote |
| F13A1 Knockout HeLa Cell Line | EDJ-KQ53192 | Human | 2162 | Details Get a Quote |
| F13A1 Knockout A-549 Cell Line | EDJ-KQ61671 | Human | 2162 | Details Get a Quote |
| F13A1 Knockout HCT 116 Cell Line | EDJ-KQ70154 | Human | 2162 | Details Get a Quote |
