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F13A1 coagulation factor XIII A chain [ Homo sapiens (human) ]

Gene ID: 2162, updated on 10-Dec-2024

Summary

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Official Symbol
F13A1provided by HGNC
Official Full Name
coagulation factor XIII A chainprovided by HGNC
Primary source
HGNC:HGNC:3531
See related
Ensembl:ENSG00000124491 MIM:134570; AllianceGenome:HGNC:3531
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
F13A
Summary
This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
Expression
Biased expression in placenta (RPKM 246.8), urinary bladder (RPKM 65.1) and 12 other tissues See more
Orthologs
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Genomic context

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See F13A1 in Genome Data Viewer
Location:
6p25.1
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (6144084..6320662, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (6013258..6189597, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (6144317..6320895, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374898 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:5998084-5999283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:5999848-6000753 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:6003798-6004622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16878 Neighboring gene pyruvate kinase M1/2 pseudogene 5 Neighboring gene neuritin 1 Neighboring gene MPRA-validated peak5639 silencer Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:6169218-6169883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:6178115-6178614 Neighboring gene microRNA 5683 Neighboring gene microRNA 7853 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:6218631-6219830 Neighboring gene uncharacterized LOC124901253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23915 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:6361855-6363054 Neighboring gene LY86 antisense RNA 1 Neighboring gene small nuclear RNA activating complex polypeptide 5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23916 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23918 Neighboring gene calponin 3 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Tissue transglutaminase localization and activity regulation in the extracellular matrix of articular cartilage. Summey BT Jr, et al. J Orthop Res, 2002 Jan. PMID 11853093
  2. Factor XIII-A is involved in the regulation of gene expression in alternatively activated human macrophages. Töröcsik D, et al. Thromb Haemost, 2010 Oct. PMID 20664907
  3. Allele-allele interaction within the F13A1 gene: a risk factor for ischaemic heart disease in Spanish population. Carreras-Torres R, et al. Thromb Res, 2010 Sep. PMID 20553949
  4. The FXIII Val 34 Leu mutation and the risk of venous thrombosis. Alhenc-Gelas M, et al. Thromb Haemost, 2000 Dec. PMID 11154123
  5. Factor XIII Val34Leu polymorphism and risk of deep vein thrombosis. Margaglione M, et al. Thromb Haemost, 2000 Dec. PMID 11154124

See all (360) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical Profile of Congenital Factor XIII Deficiency in Children.
    Title: Clinical Profile of Congenital Factor XIII Deficiency in Children.
  2. Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration.
    Title: Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration.
  3. Linking inflammation and angiogenesis with fibrogenesis: Expression of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis.
    Title: Linking inflammation and angiogenesis with fibrogenesis: Expression of FXIIIA, MMP-9, and VEGF in oral submucous fibrosis.
  4. Cellular FXIII in Human Macrophage-Derived Foam Cells.
    Title: Cellular FXIII in Human Macrophage-Derived Foam Cells.
  5. Macrophages-derived Factor XIII links coagulation to inflammation in COPD.
    Title: Macrophages-derived Factor XIII links coagulation to inflammation in COPD.
  6. MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and Coronary Heart Disease.
    Title: MicroRNA 155, Factor XIII and Type 2 Diabetes Mellitus and Coronary Heart Disease.
  7. [Gene diagnosis of a family with coagulation factor deficiency caused by large deletion of F13A1 gene].
    Title: [Gene diagnosis of a family with coagulation factor ⅩⅢ deficiency caused by large deletion of F13A1 gene].
  8. Genetic Background of Inherited Factor XIII-A Subunit Deficiency: Review of the Literature and Description of Two New Cases.
    Title: Genetic Background of Inherited Factor XIII-A Subunit Deficiency: Review of the Literature and Description of Two New Cases.
  9. Fibrinogen beta chain and FXIII polymorphisms affect fibrin clot properties in acute pulmonary embolism.
    Title: Fibrinogen β chain and FXIII polymorphisms affect fibrin clot properties in acute pulmonary embolism.
  10. F13A1 transglutaminase expression in human adipose tissue increases in acquired excess weight and associates with inflammatory status of adipocytes.
    Title: F13A1 transglutaminase expression in human adipose tissue increases in acquired excess weight and associates with inflammatory status of adipocytes.
Submit: New GeneRIF Correction See all GeneRIFs (199)

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

Associated conditions

Description Tests
Factor XIII, A subunit, deficiency of
MedGen: C2750514 OMIM: 613225 GeneReviews: Not available
Compare labs
Myocardial infarction, susceptibility to
MedGen: C1832662 OMIM: 608446 GeneReviews: Not available
Compare labs
Thrombophilia due to thrombin defect
MedGen: C3160733 OMIM: 188050 GeneReviews: Prothrombin Thrombophilia
Compare labs

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
EBI GWAS Catalog
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
EBI GWAS Catalog

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
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of coagulation factor XIII, A1 polypeptide (F13A1) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-glutamine gamma-glutamyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein-glutamine gamma-glutamyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood coagulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in blood coagulation, fibrin clot formation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in blood coagulation, fibrin clot formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in peptide cross-linking IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in blood microparticle HDA PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space NAS
Non-traceable Author Statement
more info
 PubMed 
located_in platelet alpha granule lumen TAS
Traceable Author Statement
more info
  
part_of transferase complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
coagulation factor XIII A chain
Names
FSF, A subunit
TGase
bA525O21.1 (coagulation factor XIII, A1 polypeptide)
coagulation factor XIII, A polypeptide
coagulation factor XIII, A1 polypeptide
coagulation factor XIIIa
factor XIIIa
fibrin stabilizing factor, A subunit
fibrinoligase
protein-glutamine gamma-glutamyltransferase A chain
transglutaminase A chain
transglutaminase. plasma
NP_000120.2

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

  1. NG_008107.1 RefSeqGene

    Range
    5001..181614
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_549

mRNA and Protein(s)

  1. NM_000129.4 → NP_000120.2  coagulation factor XIII A chain

    See identical proteins and their annotated locations for NP_000120.2

    Status: REVIEWED

    Source sequence(s)
    AB208852, AL157775, BP251770
    Consensus CDS
    CCDS4496.1
    UniProtKB/Swiss-Prot
    P00488, Q59HA7, Q8N6X2, Q96P24, Q9BX29
    UniProtKB/TrEMBL
    B2R6V9
    Related
    ENSP00000264870.3, ENST00000264870.8
    Conserved Domains (4) summary
    smart00460
    Location:309 → 400
    TGc; Transglutaminase/protease-like homologues
    COG1305
    Location:284 → 408
    YebA; Transglutaminase-like enzyme, putative cysteine protease [Posttranslational modification, protein turnover, chaperones]
    pfam00868
    Location:47 → 164
    Transglut_N; Transglutaminase family
    pfam00927
    Location:519 → 623
    Transglut_C; Transglutaminase family, C-terminal ig like domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    6144084..6320662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    6013258..6189597 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P00488.5 GenPept UniProtKB/Swiss-Prot:P00488

Gene LinkOut

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