Free for academic non-profit institutions. Other users need a Commercial license

Aliases for F13A1 Gene

Aliases for F13A1 Gene

  • Coagulation Factor XIII A Chain 2 3 5
  • Protein-Glutamine Gamma-Glutamyltransferase A Chain 3 4
  • Coagulation Factor XIII, A1 Polypeptide 2 3
  • Coagulation Factor XIIIa 3 4
  • Transglutaminase A Chain 3 4
  • EC 2.3.2.13 4 61
  • F13A 3 4
  • BA525O21.1 (Coagulation Factor XIII, A1 Polypeptide) 3
  • Coagulation Factor XIII, A Polypeptide 3
  • Fibrin Stabilizing Factor, A Subunit 3
  • Transglutaminase. Plasma 3
  • FSF, A Subunit 3
  • Fibrinoligase 3
  • Factor XIIIa 3
  • TGase 3

External Ids for F13A1 Gene

Previous HGNC Symbols for F13A1 Gene

  • F13A

Previous GeneCards Identifiers for F13A1 Gene

  • GC06M006129
  • GC06M006089

Summaries for F13A1 Gene

Entrez Gene Summary for F13A1 Gene

  • 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]

GeneCards Summary for F13A1 Gene

F13A1 (Coagulation Factor XIII A Chain) is a Protein Coding gene. Diseases associated with F13A1 include Factor Xiiia Deficiency and Factor Xiii Deficiency. Among its related pathways are Platelet activation, signaling and aggregation and Collagen biosynthesis and modifying enzymes. GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM1.

UniProtKB/Swiss-Prot for F13A1 Gene

  • Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.

Gene Wiki entry for F13A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F13A1 Gene

Genomics for F13A1 Gene

Regulatory Elements for F13A1 Gene

Enhancers for F13A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around F13A1 on UCSC Golden Path with GeneCards custom track

Promoters for F13A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for F13A1 Gene

Chromosome:
6
Start:
6,144,078 bp from pter
End:
6,321,013 bp from pter
Size:
176,936 bases
Orientation:
Minus strand

Genomic View for F13A1 Gene

Genes around F13A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F13A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F13A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F13A1 Gene

Proteins for F13A1 Gene

  • Protein details for F13A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P00488-F13A_HUMAN
    Recommended name:
    Coagulation factor XIII A chain
    Protein Accession:
    P00488
    Secondary Accessions:
    • Q59HA7
    • Q8N6X2
    • Q96P24
    • Q9BX29

    Protein attributes for F13A1 Gene

    Size:
    732 amino acids
    Molecular mass:
    83267 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Tetramer of two A chains (F13A1) and two B (F13B) chains.
    SequenceCaution:
    • Sequence=AAA52489.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAD92089.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for F13A1 Gene

neXtProt entry for F13A1 Gene

Selected DME Specific Peptides for F13A1 Gene

Post-translational modifications for F13A1 Gene

Other Protein References for F13A1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for F13A1

Domains & Families for F13A1 Gene

Gene Families for F13A1 Gene

Graphical View of Domain Structure for InterPro Entry

P00488

UniProtKB/Swiss-Prot:

F13A_HUMAN :
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
Family:
  • Belongs to the transglutaminase superfamily. Transglutaminase family.
genes like me logo Genes that share domains with F13A1: view

Function for F13A1 Gene

Molecular function for F13A1 Gene

GENATLAS Biochemistry:
coagulation factor XIII,A1 polypeptide,catalytic subunit (75kDa),catalyzing the formation of glutamyl-lysine bonds between fibrin monomers
UniProtKB/Swiss-Prot CatalyticActivity:
Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3).
UniProtKB/Swiss-Prot Function:
Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin.

Enzyme Numbers (IUBMB) for F13A1 Gene

Gene Ontology (GO) - Molecular Function for F13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IEA,TAS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with F13A1: view
genes like me logo Genes that share phenotypes with F13A1: view

Human Phenotype Ontology for F13A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F13A1 Gene

MGI Knock Outs for F13A1:

Animal Model Products

CRISPR Products

miRNA for F13A1 Gene

miRTarBase miRNAs that target F13A1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for F13A1 Gene

Localization for F13A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for F13A1 Gene

Cytoplasm. Secreted. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also secreted in the blood plasma.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F13A1 Gene COMPARTMENTS Subcellular localization image for F13A1 gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 3
plasma membrane 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for F13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0031093 platelet alpha granule lumen TAS --
GO:0072562 blood microparticle IDA 22516433
genes like me logo Genes that share ontologies with F13A1: view

Pathways & Interactions for F13A1 Gene

genes like me logo Genes that share pathways with F13A1: view

Gene Ontology (GO) - Biological Process for F13A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007596 blood coagulation IEA,TAS --
GO:0018149 peptide cross-linking IEA --
genes like me logo Genes that share ontologies with F13A1: view

No data available for SIGNOR curated interactions for F13A1 Gene

Drugs & Compounds for F13A1 Gene

(16) Drugs for F13A1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Aspirin Approved, Vet_approved Pharma Channel blocker 1074
1,2-Propanediol Experimental Pharma Target 0
N-Acetyl-Serine Experimental Pharma Target 0
calcium Nutra 0

(19) Additional Compounds for F13A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
N-Acetylserine
  • Acetylserine
  • N-Acetyl-L-Serine
  • N-Acetylserine
16354-58-8
genes like me logo Genes that share compounds with F13A1: view

Transcripts for F13A1 Gene

Unigene Clusters for F13A1 Gene

Coagulation factor XIII, A1 polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for F13A1 Gene

No ASD Table

Relevant External Links for F13A1 Gene

GeneLoc Exon Structure for
F13A1
ECgene alternative splicing isoforms for
F13A1

Expression for F13A1 Gene

mRNA expression in normal human tissues for F13A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for F13A1 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x6.7) and Adipose - Subcutaneous (x4.2).

Protein differential expression in normal tissues from HIPED for F13A1 Gene

This gene is overexpressed in Platelet (18.7) and Peripheral blood mononuclear cells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for F13A1 Gene



Protein tissue co-expression partners for F13A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of F13A1 Gene:

F13A1

SOURCE GeneReport for Unigene cluster for F13A1 Gene:

Hs.335513
genes like me logo Genes that share expression patterns with F13A1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for F13A1 Gene

Orthologs for F13A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for F13A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia F13A1 34
  • 84.74 (n)
  • 86.75 (a)
F13A1 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F13A1 34
  • 87.73 (n)
  • 88.1 (a)
F13A1 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F13a1 34
  • 84.65 (n)
  • 86.89 (a)
F13a1 16
F13a1 35
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F13a1 34
  • 84.93 (n)
  • 86.34 (a)
oppossum
(Monodelphis domestica)
Mammalia F13A1 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F13A1 35
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia F13A1 35
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves F13A1 34
  • 67.81 (n)
  • 65.84 (a)
F13A1 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F13A1 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f13a1 34
  • 65.71 (n)
  • 63.97 (a)
zebrafish
(Danio rerio)
Actinopterygii f13a1b 34
  • 55.6 (n)
  • 48.95 (a)
wufo83d04 34
F13A1 (3 of 3) 35
  • 42 (a)
OneToMany
f13a1a.1 35
  • 41 (a)
OneToMany
f13a1b 35
  • 47 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.65 34
fruit fly
(Drosophila melanogaster)
Insecta CG7356 36
  • 34 (a)
Tg 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10087 35
  • 32 (a)
OneToMany
Species where no ortholog for F13A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F13A1 Gene

ENSEMBL:
Gene Tree for F13A1 (if available)
TreeFam:
Gene Tree for F13A1 (if available)

Paralogs for F13A1 Gene

Paralogs for F13A1 Gene

(8) SIMAP similar genes for F13A1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with F13A1: view

Variants for F13A1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for F13A1 Gene

F13A_HUMAN-P00488
There are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In addition two other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of F13A*(2)B.

Sequence variations from dbSNP and Humsavar for F13A1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs5982 - 6,174,633(-) GGTCC(C/T)GAAGG reference, missense
rs5987 - 6,151,907(-) TGACA(A/G)TTGAG reference, missense
rs5988 - 6,151,904(-) CAGTT(C/G)AGTTT reference, missense
VAR_007474 Factor XIII subunit A deficiency (FA13AD)
rs5985 - 6,318,562(-) AGGGC(A/G/T)TGGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for F13A1 Gene

Variant ID Type Subtype PubMed ID
dgv1709e212 CNV loss 25503493
dgv3263n106 CNV deletion 24896259
dgv3446e59 CNV duplication 20981092
esv1009363 CNV insertion 20482838
esv1659194 CNV deletion 17803354
esv2245687 CNV deletion 18987734
esv2383897 CNV deletion 18987734
esv2485689 CNV deletion 19546169
esv2500161 CNV deletion 19546169
esv2605227 CNV deletion 19546169
esv2656481 CNV deletion 23128226
esv2731523 CNV deletion 23290073
esv2731524 CNV deletion 23290073
esv2731525 CNV deletion 23290073
esv2731526 CNV deletion 23290073
esv2731527 CNV deletion 23290073
esv2731529 CNV deletion 23290073
esv2731530 CNV deletion 23290073
esv2731531 CNV deletion 23290073
esv3567205 CNV deletion 23714750
esv3567206 CNV deletion 23714750
esv3570748 CNV loss 25503493
esv3607994 CNV loss 21293372
nsv1031283 CNV loss 25217958
nsv1068707 OTHER inversion 25765185
nsv1072181 CNV deletion 25765185
nsv1133014 OTHER inversion 24896259
nsv1133097 OTHER inversion 24896259
nsv1141507 CNV duplication 24896259
nsv1151332 OTHER inversion 26484159
nsv1153982 CNV deletion 26484159
nsv436891 CNV insertion 17901297
nsv5184 CNV insertion 18451855
nsv520166 CNV loss 19592680
nsv957535 CNV deletion 24416366

Variation tolerance for F13A1 Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.96; 94.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F13A1 Gene

Human Gene Mutation Database (HGMD)
F13A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F13A1

Disorders for F13A1 Gene

MalaCards: The human disease database

(33) MalaCards diseases for F13A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
factor xiiia deficiency
  • factor xiii subunit a deficiency
factor xiii deficiency
  • deficiency, laki-lorand factor
thrombophilia due to thrombin defect
  • thromboembolism
myocardial infarction
  • myocardial infarction, protection against
self-healing papular mucinosis
- elite association - COSMIC cancer census association via MalaCards
Search F13A1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

F13A_HUMAN
  • Factor XIII subunit A deficiency (FA13AD) [MIM:613225]: An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. {ECO:0000269 PubMed:1353995, ECO:0000269 PubMed:24286209, ECO:0000269 PubMed:24329762, ECO:0000269 PubMed:24889649}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for F13A1 Gene

bleeding tendency,defective wound healing,habitual abortion,fibrin-stabilizing factor deficiency,type II

Relevant External Links for F13A1

Genetic Association Database (GAD)
F13A1
Human Genome Epidemiology (HuGE) Navigator
F13A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F13A1
genes like me logo Genes that share disorders with F13A1: view

Publications for F13A1 Gene

  1. Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction. (PMID: 16525568) Mannila M.N. … Silveira A. (Thromb. Haemost. 2006) 3 22 46 65
  2. Identification of a point mutation in factor XIII A subunit deficiency. (PMID: 1353995) Board P. … Miloszewski K. (Blood 1992) 3 4 22 65
  3. Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. (PMID: 24889649) Biswas A. … Oldenburg J. (Ann. Hematol. 2014) 3 4 65
  4. Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. (PMID: 24329762) Borhany M. … Kohler H.P. (Haemophilia 2013) 3 4 65
  5. Genetic cardiovascular risk factors and age-related macular degeneration. (PMID: 19860767) Haas P. … Binder S. (Acta Ophthalmol 2011) 3 46 65

Products for F13A1 Gene

Sources for F13A1 Gene

Content
Loading form....