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Aliases for F13A1 Gene

Aliases for F13A1 Gene

  • Coagulation Factor XIII, A1 Polypeptide 2 3
  • F13A 3 4 6
  • Protein-Glutamine Gamma-Glutamyltransferase A Chain 3 4
  • Coagulation Factor XIIIa 3 4
  • Transglutaminase A Chain 3 4
  • EC 2.3.2.13 4 63
  • BA525O21.1 (Coagulation Factor XIII, A1 Polypeptide) 3
  • Coagulation Factor XIII, A Polypeptide 3
  • Fibrin Stabilizing Factor, A Subunit 3
  • Coagulation Factor XIII A Chain 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, A1 Polypeptide) is a Protein Coding gene. Diseases associated with F13A1 include factor xiiia deficiency and factor xiii deficiency. Among its related pathways are Hemostasis and Formation of Fibrin Clot (Clotting Cascade). GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM5.

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

Genomic Location for F13A1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    • Tetramer of two A chains and two B 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

Proteomics data for F13A1 Gene at MOPED

Selected DME Specific Peptides for F13A1 Gene

Post-translational modifications for F13A1 Gene

Other Protein References for F13A1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for F13A1 Gene

Gene Families for F13A1 Gene

HGNC:
  • TGM :Transglutaminases

Graphical View of Domain Structure for InterPro Entry

P00488

UniProtKB/Swiss-Prot:

F13A_HUMAN :
  • P00488
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 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

Animal Models for F13A1 Gene

MGI Knock Outs for F13A1:

Animal Model Products

No data available for miRNA , Transcription Factor Targeting 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 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 for F13A1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 TAS --
GO:0018149 peptide cross-linking IEA --
GO:0030168 platelet activation TAS --
genes like me logo Genes that share ontologies with F13A1: view

Compounds for F13A1 Gene

(3) HMDB Compounds for F13A1 Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Calcium
  • Ca
7440-70-2
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9

(3) Drugbank Compounds for F13A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1,2-Propanediol
57-55-6 target
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 enzyme substrate
N-Acetyl-Serine
16354-58-8 target

(28) Novoseek inferred chemical compound relationships for F13A1 Gene

Compound -log(P) Hits PubMed IDs
epsilon-(gamma-glutamyl)lysine 75.6 3
fibrinogen 74.1 66
reticulin 54.6 1
monodansylcadaverine 53.2 1
s 100 47.9 2

(1) PharmGKB related drug/compound annotations for F13A1 Gene

Drug/compound Annotation
aspirin CA
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for F13A1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for F13A1

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) (6.7) and Adipose - Subcutaneous (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for F13A1 Gene

SOURCE GeneReport for Unigene cluster for F13A1 Gene Hs.335513

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

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia F13A1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia F13A1 35
  • 84.74 (n)
  • 86.75 (a)
F13A1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F13A1 35
  • 87.73 (n)
  • 88.1 (a)
F13A1 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F13a1 35
  • 84.65 (n)
  • 86.89 (a)
F13a1 16
F13a1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F13A1 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F13A1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia F13a1 35
  • 84.93 (n)
  • 86.34 (a)
chicken
(Gallus gallus)
Aves F13A1 35
  • 67.81 (n)
  • 65.84 (a)
F13A1 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F13A1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia f13a1 35
  • 65.71 (n)
  • 63.97 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.65 35
zebrafish
(Danio rerio)
Actinopterygii F13A1 (3 of 3) 36
  • 42 (a)
OneToMany
f13a1a.1 36
  • 41 (a)
OneToMany
f13a1b 35
  • 55.6 (n)
  • 48.95 (a)
f13a1b 36
  • 47 (a)
OneToMany
wufo83d04 35
fruit fly
(Drosophila melanogaster)
Insecta Tg 36
  • 32 (a)
OneToMany
CG7356 37
  • 34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10087 36
  • 32 (a)
OneToMany
Species with no ortholog for F13A1:
  • 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

Selected 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

P00488-F13A_HUMAN
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 MAF
rs5977 -- 6,195,909(-) TCACA(C/T)CGCCC intron-variant
rs5978 -- 6,195,908(-) CACAC(C/T)GCCCT intron-variant
rs5979 -- 6,195,763(-) TTTTT(C/T)TCCCC intron-variant
rs5980 -- 6,151,774(-) TGCAG(A/G)GCTGT intron-variant
rs5981 -- 6,222,149(-) ATACC(A/C)GCAAG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv436891 CNV Insertion 17901297
nsv883421 CNV Gain 21882294
nsv883422 CNV Gain 21882294
nsv5184 CNV Insertion 18451855
esv2731523 CNV Deletion 23290073
esv2731524 CNV Deletion 23290073
esv2656481 CNV Deletion 23128226
nsv520166 CNV Loss 19592680
esv1009363 CNV Insertion 20482838
esv2731525 CNV Deletion 23290073
esv2731526 CNV Deletion 23290073
esv2731527 CNV Deletion 23290073
esv2731529 CNV Deletion 23290073
esv2500161 CNV Deletion 19546169
esv2245687 CNV Deletion 18987734
esv2731530 CNV Deletion 23290073
esv2485689 CNV Deletion 19546169
esv1659194 CNV Deletion 17803354
esv2731531 CNV Deletion 23290073
esv2383897 CNV Deletion 18987734
esv2605227 CNV Deletion 19546169

Relevant External Links for F13A1 Gene

HapMap Linkage Disequilibrium report
F13A1
Human Gene Mutation Database (HGMD)
F13A1

Disorders for F13A1 Gene

(3) OMIM Diseases for F13A1 Gene (134570)

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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for F13A1 Gene

(69) Novoseek inferred disease relationships for F13A1 Gene

Disease -log(P) Hits PubMed IDs
dermatofibroma 92.9 26
dermatofibrosarcoma protuberans 86.4 12
juvenile xanthogranuloma 85.2 3
histiocytoma fibrous 82.2 6
factor xiii deficiency 76.5 3

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

Publications for F13A1 Gene

  1. Identification of a point mutation in factor XIII A subunit deficiency. (PMID: 1353995) Board P. … Miloszewski K. (Blood 1992) 3 4 23
  2. Preeclampsia and its interaction with common variants in thrombophilia genes. (PMID: 15333035) De Maat M.P. … De Groot C.J. (J. Thromb. Haemost. 2004) 3 23 48
  3. Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women. (PMID: 11841441) Reiner A.P. … Siscovick D.S. (Br. J. Haematol. 2002) 3 23 48
  4. Polymorphism of genes related to cardiovascular disease in patients with rheumatoid arthritis. (PMID: 18173921) Arlestig L. … RantapAoAo-Dahlqvist S. (Clin. Exp. Rheumatol. 2007) 3 23 48
  5. 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 23 48

Products for F13A1 Gene

Sources for F13A1 Gene

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