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

    Gene ID: 2162, updated on 27-Nov-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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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